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Raghubeer S, Matsha TE. Methylenetetrahydrofolate (MTHFR), the One-Carbon Cycle, and Cardiovascular Risks. Nutrients 2021; 13:nu13124562. [PMID: 34960114 PMCID: PMC8703276 DOI: 10.3390/nu13124562] [Citation(s) in RCA: 86] [Impact Index Per Article: 21.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/20/2021] [Revised: 12/07/2021] [Accepted: 12/15/2021] [Indexed: 02/06/2023] Open
Abstract
The 5-10-methylenetetrahydrofolate reductase (MTHFR) enzyme is vital for cellular homeostasis due to its key functions in the one-carbon cycle, which include methionine and folate metabolism and protein, DNA, and RNA synthesis. The enzyme is responsible for maintaining methionine and homocysteine (Hcy) balance to prevent cellular dysfunction. Polymorphisms in the MTHFR gene, especially C677T, have been associated with various diseases, including cardiovascular diseases (CVDs), cancer, inflammatory conditions, diabetes, and vascular disorders. The C677T MTHFR polymorphism is thought to be the most common cause of elevated Hcy levels, which is considered an independent risk factor for CVD. This polymorphism results in an amino acid change from alanine to valine, which prevents optimal functioning of the enzyme at temperatures above 37 °C. Many studies have been conducted to determine whether there is an association between the C677T polymorphism and increased risk for CVD. There is much evidence in favour of this association, while several studies have concluded that the polymorphism cannot be used to predict CVD development or progression. This review discusses current research regarding the C677T polymorphism and its relationship with CVD, inflammation, diabetes, and epigenetic regulation and compares the evidence provided for and against the association with CVD.
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Shukla A, Shreshtha A, Mukund A, Bihari C, Eapen CE, Han G, Deshmukh H, Cua IHY, Lesmana CRA, Al Meshtab M, Kage M, Chaiteeraki R, Treeprasertsuk S, Giri S, Punamiya S, Paradis V, Qi X, Sugawara Y, Abbas Z, Sarin SK. Budd-Chiari syndrome: consensus guidance of the Asian Pacific Association for the study of the liver (APASL). Hepatol Int 2021; 15:531-567. [PMID: 34240318 DOI: 10.1007/s12072-021-10189-4] [Citation(s) in RCA: 34] [Impact Index Per Article: 8.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/28/2020] [Accepted: 04/11/2021] [Indexed: 02/07/2023]
Abstract
Budd Chiari syndrome (BCS) is a diverse disease with regard to the site of obstruction, the predisposing thrombophilic disorders and clinical presentation across the Asia-Pacific region. The hepatic vein ostial stenosis and short segment thrombosis are common in some parts of Asia-Pacific region, while membranous obstruction of the vena cava is common in some and complete thrombosis of hepatic veins in others. Prevalence of myeloproliferative neoplasms and other thrombophilic disorders in BCS varies from region to region and with different sites of obstruction. This heterogeneity also raises several issues and dilemmas in evaluation and approach to management of a patient with BCS. The opportunity to recanalize hepatic vein in patients with hepatic vein ostial stenosis or inferior vena cava stenting or pasty among those membranous obstruction of the vena cava is a unique opportunity in the Asia-Pacific region to restore hepatic outflow closely mimicking physiology. In order to address these issues arising out of the diversity as well as the unique features in the region, the Asia Pacific Association for Study of Liver has formulated these guidelines for clinicians.
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Affiliation(s)
- Akash Shukla
- Department of Gastroenterology, King Edward Memorial Hospital and Seth Gordhandas Sunderdas Medical College, Mumbai, India.
| | | | - Amar Mukund
- Institute of Liver and Biliary Sciences, New Delhi, India
| | - Chhagan Bihari
- Institute of Liver and Biliary Sciences, New Delhi, India
| | - C E Eapen
- Christian Medical College, Vellore, India
| | - Guohong Han
- Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xian, China
| | - Hemant Deshmukh
- Dean and Head of Radiology, King Edward Memorial Hospital and Seth Gordhandas Sunderdas Medical College, Mumbai, India
| | - Ian Homer Y Cua
- Institute of Digestive and Liver Diseases, St Lukes Medical Center, Global City, Philippines
| | - Cosmas Rinaldi Adithya Lesmana
- Dr. Cipto Mangunkusumo National General Hospital, Universitas Indonesia, Jakarta, Indonesia
- Digestive Disease & GI Oncology Center, Medistra Hospital, Jakarta, Indonesia
| | - Mamun Al Meshtab
- Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh
- Center for Innovative Cancer Therapy, Kurume University Research, 67 Asahi-machi, Kurume, 830-0011, Japan
| | - Masayoshi Kage
- Department of Gastroenterology, King Edward Memorial Hospital and Seth Gordhandas Sunderdas Medical College, Mumbai, India
| | - Roongruedee Chaiteeraki
- Division of Gastroenterology, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
| | - Sombat Treeprasertsuk
- Division of Gastroenterology, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
| | - Suprabhat Giri
- Department of Gastroenterology, King Edward Memorial Hospital and Seth Gordhandas Sunderdas Medical College, Mumbai, India
| | - Sundeep Punamiya
- Vascular and Interventional Radiology, Tan Tock Seng Hospital, Singapore, Singapore
| | - Valerie Paradis
- Dpt dAnatomie Pathologique, Hôpital Beaujon, 100 bd du Gal Leclerc, Clichy, 92110, France
| | - Xingshun Qi
- General Hospital of Northern Theater Command (formerly General Hospital of Shenyang Military Area), No. 83 Wenhua Road, Shenyang, China
| | - Yasuhiko Sugawara
- Department of Transplantation and Pediatric Surgery, Kumamoto University, Kumamoto, Japan
| | - Zaigham Abbas
- Department of Hepatogastroenterology, Dr. Ziauddin University Hospital Clifton, Karachi, Pakistan
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Fan J, Wang Q, Luo B, Chen H, Wang Z, Niu J, Yuan J, Yuan X, Bai W, He C, Guo W, Li K, Yin Z, Fan D, Han G. Prevalence of prothrombotic factors in patients with Budd-Chiari syndrome or non-cirrhotic nonmalignant portal vein thrombosis: A hospital-based observational study. J Gastroenterol Hepatol 2020; 35:1215-1222. [PMID: 31711259 DOI: 10.1111/jgh.14925] [Citation(s) in RCA: 10] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/28/2019] [Revised: 10/21/2019] [Accepted: 11/04/2019] [Indexed: 01/18/2023]
Abstract
BACKGROUND AND AIM Comprehensive investigations on the prothrombotic factors of splanchnic vein thrombosis (SVT), including Budd-Chiari syndrome (BCS) and non-cirrhotic nonmalignant portal vein thrombosis (PVT), in Eastern patients are scarce. METHODS Between March 2012 and July 2017, 812 consecutive patients, including 418 BCS and 394 non-cirrhotic nonmalignant PVT patients, were admitted to Xijing Hospital (a Chinese tertiary academic hospital) and screened for prothrombotic factors. Odds ratios (ORs), 95% confidence intervals (CIs), and P-trends were calculated by using conditional logistic regression. RESULTS The prevalence of myeloproliferative neoplasms (MPNs) was only 6.3% among BCS patients but 28.3% among PVT patients. Notably, the presence of MPNs was associated with a higher risk of hepatic vein-type BCS (OR 9.9, 95% CI 3.6-26.7, P-trend < 0.001) and extensive thrombosis in PVT (OR 4.1, 95% CI 1.9-8.9, P-trend < 0.001). Calreticulin mutations existed in 2.7% of SVT patients. Furthermore, the prevalence of antiphospholipid antibody syndrome and protein C, protein S, or antithrombin deficiency in BCS patients was 7.3% and 22.5%, respectively, similar to that in patients with PVT (7.4% and 25.7%). In addition, factor V Leiden mutation, prothrombin G20210A mutation, and paroxysmal nocturnal hemoglobinuria were identified in < 1% of both BCS and PVT patients. CONCLUSION There is a significant positive association between MPNs and hepatic vein-type BCS or non-cirrhotic nonmalignant PVT with extensive thrombosis. Additionally, calreticulin mutations should be tested in JAK2V617F -negative SVT patients in China. However, screening for factor V Leiden mutation, prothrombin G20210A mutation, and paroxysmal nocturnal hemoglobinuria may be unnecessary.
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Affiliation(s)
- Jiahao Fan
- Department of Liver Disease and Digestive Interventional Radiology, National Clinical Research Center for Digestive Disease and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
| | - Qiuhe Wang
- Department of Liver Disease and Digestive Interventional Radiology, National Clinical Research Center for Digestive Disease and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
| | - Bohan Luo
- Department of Liver Disease and Digestive Interventional Radiology, National Clinical Research Center for Digestive Disease and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
| | - Hui Chen
- Department of Liver Disease and Digestive Interventional Radiology, National Clinical Research Center for Digestive Disease and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
| | - Zhengyu Wang
- Department of Liver Disease and Digestive Interventional Radiology, National Clinical Research Center for Digestive Disease and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
| | - Jing Niu
- Department of Liver Disease and Digestive Interventional Radiology, National Clinical Research Center for Digestive Disease and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
| | - Jie Yuan
- Department of Liver Disease and Digestive Interventional Radiology, National Clinical Research Center for Digestive Disease and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
| | - Xulong Yuan
- Department of Liver Disease and Digestive Interventional Radiology, National Clinical Research Center for Digestive Disease and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
| | - Wei Bai
- Department of Liver Disease and Digestive Interventional Radiology, National Clinical Research Center for Digestive Disease and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
| | - Chuangye He
- Department of Liver Disease and Digestive Interventional Radiology, National Clinical Research Center for Digestive Disease and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
| | - Wengang Guo
- Department of Liver Disease and Digestive Interventional Radiology, National Clinical Research Center for Digestive Disease and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
| | - Kai Li
- Department of Liver Disease and Digestive Interventional Radiology, National Clinical Research Center for Digestive Disease and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
| | - Zhanxin Yin
- Department of Liver Disease and Digestive Interventional Radiology, National Clinical Research Center for Digestive Disease and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
| | - Daiming Fan
- State Key laboratory of Cancer Biology, National Clinical Research Center for Digestive Disease and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
| | - Guohong Han
- Department of Liver Disease and Digestive Interventional Radiology, National Clinical Research Center for Digestive Disease and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
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Primignani M. Thrombophilia and Primary Budd–Chiari Syndrome. BUDD-CHIARI SYNDROME 2020:57-71. [DOI: 10.1007/978-981-32-9232-1_5] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 01/04/2025]
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Khan F, Armstrong MJ, Mehrzad H, Chen F, Neil D, Brown R, Cain O, Tripathi D. Review article: a multidisciplinary approach to the diagnosis and management of Budd-Chiari syndrome. Aliment Pharmacol Ther 2019; 49:840-863. [PMID: 30828850 DOI: 10.1111/apt.15149] [Citation(s) in RCA: 21] [Impact Index Per Article: 3.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/17/2018] [Revised: 11/06/2019] [Accepted: 12/29/2018] [Indexed: 12/13/2022]
Abstract
BACKGROUND Budd-Chiari syndrome (BCS) is a rare but fatal disease caused by obstruction in the hepatic venous outflow tract. AIM To provide an update of the pathophysiology, aetiology, diagnosis, management and follow-up of BCS. METHODS Analysis of recent literature by using Medline, PubMed and EMBASE databases. RESULTS Primary BCS is usually caused by thrombosis and is further classified into "classical BCS" type where obstruction occurs within the hepatic vein and "hepatic vena cava BCS" which involves thrombosis of the intra/suprahepatic portion of the inferior vena cava (IVC). BCS patients often have a combination of prothrombotic risk factors. Aetiology and presentation differ between Western and certain Asian countries. Myeloproliferative neoplasms are present in 35%-50% of European patients and are usually associated with the JAK2-V617F mutation. Clinical presentation is diverse and BCS should be excluded in any patient with acute or chronic liver disease. Non-invasive imaging (Doppler ultrasound, computed tomography, or magnetic resonance imaging) usually provides the diagnosis. Liver biopsy should be obtained if small vessel BCS is suspected. Stepwise management strategy includes anticoagulation, treatment of identified prothrombotic risk factors, percutaneous revascularisation and transjugular intrahepatic portosystemic stent shunt to re-establish hepatic venous drainage, and liver transplantation in unresponsive patients. This strategy provides a 5-year survival rate of nearly 90%. Long-term outcome is influenced by any underlying haematological condition and development of hepatocellular carcinoma. CONCLUSIONS With the advent of newer treatment strategies and improved understanding of BCS, outcomes in this rare disease have improved over the last three decades. An underlying haematological disorder can be the major determinant of outcome.
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Affiliation(s)
- Faisal Khan
- Liver Unit, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK
| | - Matthew J Armstrong
- Liver Unit, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.,NIHR Birmingham Biomedical Research Centre, University Hospitals Birmingham NHS Foundation Trust and University of Birmingham, Birmingham, UK.,Institute of Immunology and Immunotherapy, University of Birmingham, Birmingham, UK
| | - Homoyon Mehrzad
- Imaging and Interventional Radiology Department, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK
| | - Frederick Chen
- NIHR Birmingham Biomedical Research Centre, University Hospitals Birmingham NHS Foundation Trust and University of Birmingham, Birmingham, UK.,Department of Clinical Haematology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK
| | - Desley Neil
- Department of Cellular Pathology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK
| | - Rachel Brown
- Department of Cellular Pathology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK
| | - Owen Cain
- Department of Cellular Pathology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK
| | - Dhiraj Tripathi
- Liver Unit, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.,NIHR Birmingham Biomedical Research Centre, University Hospitals Birmingham NHS Foundation Trust and University of Birmingham, Birmingham, UK.,Institute of Immunology and Immunotherapy, University of Birmingham, Birmingham, UK
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Lv Y, Li K, He C, Luo B, Zhang B, Liu H, Wang Z, Guo W, Wang Q, Chen H, Bai W, Yuan X, Yu T, Li X, Yuan J, Han N, Zhu Y, Niu J, Xie H, Wang J, Chen L, Yin Z, Fan D, Li Z, Han G. TIPSS for variceal bleeding in patients with idiopathic non-cirrhotic portal hypertension: comparison with patients who have cirrhosis. Aliment Pharmacol Ther 2019; 49:926-939. [PMID: 30820990 DOI: 10.1111/apt.15186] [Citation(s) in RCA: 14] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/26/2018] [Revised: 11/23/2018] [Accepted: 01/18/2019] [Indexed: 12/13/2022]
Abstract
BACKGROUND In patients with idiopathic non-cirrhotic portal hypertension (INCPH), the usual recommended strategy for management of variceal bleeding is the same as that in cirrhosis. However, this policy has been challenged by the different natural history between INCPH and cirrhosis. AIM To compare outcomes after transjugular intrahepatic portosystemic shunt (TIPSS) between INCPH and cirrhotic patients admitted for variceal bleeding. METHODS Between March 2001 and September 2015, 76 consecutive patients with biopsy-proven INCPH undergoing TIPSS for variceal bleeding in a tertiary-care centre were included. 76 patients with cirrhotic portal hypertension receiving TIPSS for variceal bleeding, and matched for age, sex, Child-Pugh class, stent type and index year of TIPSS creation served as controls. RESULTS Patients with INCPH, compared to those with cirrhosis, had significantly lower mortality (11% vs 36% at 5 years, adjusted HR, 0.37; 95% CI 0.15-0.87, P = 0.022), overt hepatic encephalopathy (16% vs 33% at 5 years, adjusted HR, 0.35; 95% CI 0.16-0.75, P = 0.007) and hepatic impairment, despite similar rates of further bleeding (33% vs 32% at 5 years, adjusted HR, 0.72; 95% CI 0.36-1.44, P = 0.358), and shunt dysfunction (35% vs 36% at 5 years, adjusted HR, 0.84; 95% CI 0.41-1.72, P = 0.627). These findings were consistent across different relevant subgroups. CONCLUSIONS Patients with INCPH treated with TIPSS for variceal bleeding had similar progression of portal hypertension (further bleeding and shunt dysfunction) but fewer complications of liver disease (overt hepatic encephalopathy and hepatic insufficiency) and lower mortality rate compared with cirrhotic patients with comparable liver function.
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Affiliation(s)
- Yong Lv
- Department of Liver Diseases and Digestive Interventional Radiology, National Clinical Research Center for Digestive Diseases and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
| | - Kai Li
- Department of Liver Diseases and Digestive Interventional Radiology, National Clinical Research Center for Digestive Diseases and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
| | - Chuangye He
- Department of Liver Diseases and Digestive Interventional Radiology, National Clinical Research Center for Digestive Diseases and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
| | - Bohan Luo
- Department of Liver Diseases and Digestive Interventional Radiology, National Clinical Research Center for Digestive Diseases and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
| | - Bojing Zhang
- Department of Liver Diseases and Digestive Interventional Radiology, National Clinical Research Center for Digestive Diseases and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
| | - Haibo Liu
- Department of Liver Diseases and Digestive Interventional Radiology, National Clinical Research Center for Digestive Diseases and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
| | - Zhengyu Wang
- Department of Liver Diseases and Digestive Interventional Radiology, National Clinical Research Center for Digestive Diseases and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
| | - Wengang Guo
- Department of Liver Diseases and Digestive Interventional Radiology, National Clinical Research Center for Digestive Diseases and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
| | - Qiuhe Wang
- Department of Liver Diseases and Digestive Interventional Radiology, National Clinical Research Center for Digestive Diseases and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
| | - Hui Chen
- Department of Liver Diseases and Digestive Interventional Radiology, National Clinical Research Center for Digestive Diseases and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
| | - Wei Bai
- Department of Liver Diseases and Digestive Interventional Radiology, National Clinical Research Center for Digestive Diseases and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
| | - Xulong Yuan
- Department of Liver Diseases and Digestive Interventional Radiology, National Clinical Research Center for Digestive Diseases and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
| | - Tianlei Yu
- Department of Liver Diseases and Digestive Interventional Radiology, National Clinical Research Center for Digestive Diseases and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
| | - Xiaomei Li
- Department of Liver Diseases and Digestive Interventional Radiology, National Clinical Research Center for Digestive Diseases and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
| | - Jie Yuan
- Department of Liver Diseases and Digestive Interventional Radiology, National Clinical Research Center for Digestive Diseases and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
| | - Na Han
- Department of Liver Diseases and Digestive Interventional Radiology, National Clinical Research Center for Digestive Diseases and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
| | - Ying Zhu
- Department of Liver Diseases and Digestive Interventional Radiology, National Clinical Research Center for Digestive Diseases and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
| | - Jing Niu
- Department of Liver Diseases and Digestive Interventional Radiology, National Clinical Research Center for Digestive Diseases and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
| | - Huahong Xie
- Department of Digestive Endoscopy, National Clinical Research Center for Digestive Diseases and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
| | - Jianhong Wang
- Department of Ultrasound, National Clinical Research Center for Digestive Diseases and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
| | - Ling Chen
- Department of Pathology, Xijing Hospital, Fourth Military Medical University, Xi'an, China
| | - Zhanxin Yin
- Department of Liver Diseases and Digestive Interventional Radiology, National Clinical Research Center for Digestive Diseases and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
| | - Daiming Fan
- State Key Laboratory of Cancer Biology, National Clinical Research Center for Digestive Diseases and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
| | - Zengshan Li
- Department of Pathology, Xijing Hospital, Fourth Military Medical University, Xi'an, China
| | - Guohong Han
- Department of Liver Diseases and Digestive Interventional Radiology, National Clinical Research Center for Digestive Diseases and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
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ICAM1K469E Polymorphism Effect in Gastroschisis Patients. Int Surg 2018. [DOI: 10.9738/intsurg-d-17-00045.1] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/17/2022] Open
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Qi X, Han G, Guo X, De Stefano V, Xu K, Lu Z, Xu H, Mancuso A, Zhang W, Han X, Valla DC, Fan D. Review article: the aetiology of primary Budd-Chiari syndrome - differences between the West and China. Aliment Pharmacol Ther 2016; 44:1152-1167. [PMID: 27734511 DOI: 10.1111/apt.13815] [Citation(s) in RCA: 42] [Impact Index Per Article: 4.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/26/2016] [Revised: 07/27/2016] [Accepted: 09/12/2016] [Indexed: 12/14/2022]
Abstract
BACKGROUND China may have the largest number of Budd-Chiari syndrome (BCS) cases in the world (at least 1914 original papers were published, and at least 20 191 BCS patients were reported). Considering the discrepancy in the clinical profiles and preferred treatment selection of primary BCS between the West and China, understanding its aetiology in these two different regions is very important. AIM To review the data from large cohort studies and meta-analyses to illustrate the epidemiology of risk factors for BCS in the West and China. METHODS Relevant papers were identified by major English- and Chinese-language databases, conference abstracts, and by manual search. RESULTS Risk factors reviewed include myeloproliferative neoplasms (MPNs) and their related gene mutations, anti-phospholipid syndrome, paroxysmal nocturnal haemoglobinuria (PNH), hyperhomocysteinaemia and 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T mutation, factor V Leiden (FVL) and prothrombin G20210A mutations, inherited anti-thrombin, protein C and protein S deficiencies, pregnancy and puerperium, poverty, and family history. CONCLUSIONS We examined the differences in the aetiological distribution of BCS between the West and China. Several recommendations should be considered in Chinese BCS patients: (i) screening for hyperhomocysteinaemia and MTHFR mutation should be regularly performed; (ii) screening for MPNs, PNH, and anti-phospholipid syndrome should be selectively performed; (iii) inherited anti-thrombin, protein C, and protein S deficiencies should be actively explored; (iv) screening for FVL and prothrombin G20210A mutations may be unnecessary; and (v) the clinical significance of pregnancy and puerperium, poverty with bacterial infections and unsanitary environments, and family history as possible risk factors should never be neglected.
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Affiliation(s)
- X Qi
- Xi'an, China.,Shenyang, China
| | | | | | | | | | | | | | | | - W Zhang
- Shenyang, China.,Shenzhen, China
| | | | - D C Valla
- Clichy-la-Garenne, France.,Paris, France
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El Sebay HM, Safan MA, Daoud AA, Tayel SI, Nouh MA, El Shafie S. Association of factor V Leiden, Janus kinase 2, prothrombin, and MTHFR mutations with primary Budd-Chiari syndrome in Egyptian patients. J Gastroenterol Hepatol 2016; 31:235-40. [PMID: 26238013 DOI: 10.1111/jgh.13066] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 06/21/2015] [Indexed: 12/13/2022]
Abstract
BACKGROUND AND AIM Budd-Chiari syndrome (BCS) is defined as obstruction of hepatic venous outflow anywhere from the small hepatic veins to the suprahepatic inferior vena cava. The pathogenesis of BCS is still not fully understood. This study aimed to evaluate the association of factor V Leiden (FVL), Janus kinase 2 (JAK2), prothrombin, and methylene tetrahydrofolate reductase (MTHFR) mutations with primary BCS. METHODS The study was carried out on 35 patients with primary BCS and 15 age and gender matched healthy individuals as a control group. Genotyping of FVL, prothrombin, and MTHFR mutations was determined by GENEQUALITY AB-THROMBO TYPE kit based on the reverse hybridization principle. JAK2 mutation was determined by polymerase chain reaction-restriction fragment length polymorphism. RESULTS There was a statistically significant difference between patients and controls regarding FVL, MTHFR C677T, and MTHFR A1298C mutations with odds ratio of 1.83, 2.0, and 1.79, respectively. Hetero MTHFR C677T, hetero FVL, and hetero MTHFR A1298C were the most common etiological factors being responsible for 57.1, 42.9, and 42.9% of primary BCS cases, respectively. CONCLUSION It could be concluded that BCS is a multifactorial disease; in the current study, MTHFR C677T mutation was the most common cause of disease. Identification of one cause of BCS should not eliminate investigations for detection of other etiological factors.
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Affiliation(s)
- Hatem M El Sebay
- Department of Medical Biochemistry; Faculty of Medicine, Menoufia University, Shibin El Kom, Egypt
| | - Manal A Safan
- Department of Medical Biochemistry; Faculty of Medicine, Menoufia University, Shibin El Kom, Egypt
| | - Ashraf A Daoud
- Department of Medical Biochemistry; Faculty of Medicine, Menoufia University, Shibin El Kom, Egypt
| | - Safaa I Tayel
- Department of Medical Biochemistry; Faculty of Medicine, Menoufia University, Shibin El Kom, Egypt
| | - Mohamed A Nouh
- Department of Tropical Medicine, Faculty of Medicine, Menoufia University, Shibin El Kom, Egypt
| | - Shymaa El Shafie
- Department of Medical Biochemistry; Faculty of Medicine, Menoufia University, Shibin El Kom, Egypt
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Bagheri Lankarani K, Homayon K, Motevalli D, Heidari ST, Alavian SM, Malek-Hosseini SA. Risk Factors for Portal Vein Thrombosis in Patients With Cirrhosis Awaiting Liver Transplantation in Shiraz, Iran. HEPATITIS MONTHLY 2015; 15:e26407. [PMID: 26977162 PMCID: PMC4779252 DOI: 10.5812/hepatmon.26407] [Citation(s) in RCA: 11] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 12/25/2014] [Revised: 11/12/2015] [Accepted: 11/28/2015] [Indexed: 02/05/2023]
Abstract
BACKGROUND Portal vein thrombosis is a fairly common and potentially life-threatening complication in patients with liver cirrhosis. The risk factors for portal vein thrombosis in these patients are still not fully understood. OBJECTIVES This study aimed to investigate the associations between various risk factors in cirrhotic patients and the development of portal vein thrombosis. PATIENTS AND METHODS In this case-control study performed at the Shiraz organ transplantation center, Iran, we studied 219 patients (> 18 years old) with liver cirrhosis, who were awaiting liver transplants in our unit, from November 2010 to May 2011. The patients were evaluated by history, physical examination, and laboratory tests, including factor V Leiden, prothrombin gene mutation, Janus Kinase 2 (JAK2) mutation, and serum levels of protein C, protein S, antithrombin III, homocysteine, factor VIII, and anticardiolipin antibodies. RESULTS There was no statistically significant difference in the assessed hypercoagulable states between patients with or without portal vein thrombosis. A history of previous variceal bleeding with subsequent endoscopic treatment in patients with portal vein thrombosis was significantly higher than in those without it (P = 0.013, OR: 2.526, 95% CI: 1.200 - 5.317). CONCLUSIONS In our population of cirrhotic patients, treatment of variceal bleeding predisposed the patients to portal vein thrombosis, but hypercoagulable disorders by themselves were not associated with portal vein thrombosis.
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Affiliation(s)
- Kamran Bagheri Lankarani
- Health Policy Research Center, Shiraz University of Medical Sciences, Shiraz, IR Iran
- Corresponding Author: Kamran Bagheri Lankarani, Health Policy Research Center, Shiraz University of Medical Sciences, Shiraz, IR Iran. Tel/Fax: +98-07112309615, E-mail:
| | - Katayon Homayon
- Gastroenterology and Hepatology Rearch Center, Shiraz University of Medical Sciences, Shiraz, IR Iran
| | - Dorna Motevalli
- Health Policy Research Center, Shiraz University of Medical Sciences, Shiraz, IR Iran
| | - Seyed Taghi Heidari
- Health Policy Research Center, Shiraz University of Medical Sciences, Shiraz, IR Iran
| | - Seyed Moayed Alavian
- Research Center for Gastroenterology and Liver Diseases, Baghiatallah University of Medical Sciences, Tehran, IR Iran
- Tehran Hepatitis Center , Tehran, IR Iran
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Abstract
Budd-Chiari syndrome (BCS) is a rare and potentially life-threatening disorder characterized by obstruction of the hepatic outflow tract at any level between the junction of the inferior vena cava with the right atrium and the small hepatic veins. In the West, BCS is a rare hepatic manifestation of one or more underlying prothrombotic risk factors. The most common underlying prothrombotic risk factor is a myeloproliferative disorder, although it is now recognized that almost half of patients have multiple underlying prothrombotic risk factors. Clinical manifestations can be diverse, making BCS a possible differential diagnosis of many acute and chronic liver diseases. The index of suspicion should be very low if there is a known underlying prothrombotic risk factor and new onset of liver disease. Doppler ultrasound is sufficient for confirming the diagnosis, although tomographic imaging (computed tomography (CT) or magnetic resonance imaging (MRI)) is often necessary for further treatment and discussion with a multidisciplinary team. Anticoagulation is the cornerstone of the treatment. Despite the use of anticoagulation, the majority of patients need additional (more invasive) treatment strategies. Algorithms consisting of local angioplasty, TIPS and liver transplantation have been proposed, with treatment choice dictated by a lack of response to a less-invasive treatment regimen. The application of these treatment strategies allows for a five-year survival rate of 90%. In the long term the disease course of BCS can sometimes be complicated by recurrence, progression of the underlying myeloproliferative disorder, or development of post-transplant lymphoma in transplant patients.
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Affiliation(s)
| | - Frederik Nevens
- Department of Liver and Biliopancreatic Disorders, University Hospital Gasthuisberg KU Leuven, Leuven, Belgium
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Makhmudi A, Sadewa AH, Aryandono T, Chatterjee S, Heij HA, Gunadi. Effects ofMTHFRc.677C>T,F2c.20210G>A andF5Leiden Polymorphisms in Gastroschisis. J INVEST SURG 2015; 29:88-92. [DOI: 10.3109/08941939.2015.1077908] [Citation(s) in RCA: 11] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/13/2022]
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Lu YH, Cheng LM, Huang YH, Lo MY, Wu TJT, Lin HY, Hsu TR, Niu DM. Heterozygous carriers of classical homocystinuria tend to have higher fasting serum homocysteine concentrations than non-carriers in the presence of folate deficiency. Clin Nutr 2014; 34:1155-8. [PMID: 25516282 DOI: 10.1016/j.clnu.2014.11.013] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/06/2014] [Revised: 10/27/2014] [Accepted: 11/27/2014] [Indexed: 11/27/2022]
Abstract
BACKGROUND & AIMS Many studies have reported that serum total homocysteine (tHcy) levels in cystathionine-beta-synthase (CBS) carriers are usually normal and only elevated after a methionine load. However, the amount of methionine required for a loading test is non-physiological and is never reached with regular feeding. Therefore, CBS carriers do not seem to be at an increased risk of cardiovascular diseases. However, the risk of cardiovascular diseases of CBS carriers with folate deficiency has not been studied. We recently found an extraordinarily high carrier rate (1/7.78) of a novel CBS mutation (p.D47E, c.T141A) in an Austronesian Taiwanese Tao tribe who live in a geographic area with folate deficiency. We evaluated if the CBS carriers tend to have higher fasting serum tHcy concentrations than non-carriers in presence of folate deficiency. METHODS The serum tHcy and folate levels before and after folate replacement were measured in 48 adult Tao carriers, 40 age-matched Tao non-carriers and 40 age-matched Han Taiwanese controls. RESULTS The serum tHcy level of the Tao CBS carriers (17.9 ± 3.8 μmol/l) was significantly higher than in Tao non-carriers (15.7 ± 3.5 μmol/l; p < 0.008) and Taiwanese controls (11.8 ± 2.9 μmol/l; p < 0.001). Furthermore, a high prevalence of folate deficiency in the Tao compared with the Taiwanese controls (4.9 ± 1.8 ng/ml vs. 10.6 ± 5.5 ng/ml; p < 0.001) was also noted. Of note, the difference in tHcy levels between the carriers and non-carriers was eliminated by folate supplementation. (carriers:13.65 ± 2.13 μmol/l; non-carriers:12.39 ± 3.25 μmol/l, p = 0.321). CONCLUSIONS CBS carriers tend to have a higher tHcy level in the presence of folate deficiency than non-carriers. Although many reports have indicated that CBS carriers are not associated with cardiovascular disease, the risk for CBS carriers with folate deficiency has not been well studied. Owing to a significantly elevated level of fasting tHcy without methionine loading, it is important to evaluate the risk of cardiovascular disease in CBS carriers with folate deficiency.
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Affiliation(s)
- Yung-Hsiu Lu
- Institute of Clinical Medicine, National Yang-Ming University, School of Medicine, Taipei, Taiwan, ROC; Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan, ROC
| | - Li-Mei Cheng
- Lanyu Township Health Office, Taitung, Taiwan, ROC
| | - Yu-Hsiu Huang
- Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan, ROC
| | - Ming-Yu Lo
- Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan, ROC
| | - Tina Jui-Ting Wu
- Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan, ROC
| | - Hsiang-Yu Lin
- Institute of Clinical Medicine, National Yang-Ming University, School of Medicine, Taipei, Taiwan, ROC; Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan, ROC
| | - Ting-Rong Hsu
- Institute of Clinical Medicine, National Yang-Ming University, School of Medicine, Taipei, Taiwan, ROC; Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan, ROC.
| | - Dau-Ming Niu
- Institute of Clinical Medicine, National Yang-Ming University, School of Medicine, Taipei, Taiwan, ROC; Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan, ROC.
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15
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Qi X, Yang Z, De Stefano V, Fan D. Methylenetetrahydrofolate reductase C677T gene mutation and hyperhomocysteinemia in Budd-Chiari syndrome and portal vein thrombosis: A systematic review and meta-analysis of observational studies. Hepatol Res 2014; 44:E480-98. [PMID: 24773704 DOI: 10.1111/hepr.12348] [Citation(s) in RCA: 25] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/21/2014] [Revised: 04/23/2014] [Accepted: 04/24/2014] [Indexed: 02/05/2023]
Abstract
AIM A systematic review and meta-analysis were conducted to explore the role of the methylenetetrahydrofolate reductase (MTHFR) C677T gene mutation and hyperhomocysteinemia in patients with Budd-Chiari syndrome (BCS) and portal vein thrombosis (PVT). METHODS PubMed, EMBASE, Cochrane Library and ScienceDirect databases were searched. Eligible studies should compare the prevalence of the MTHFR C677T mutation or hyperhomocysteinemia or the homocysteine levels between BCS or non-cirrhotic PVT patients and healthy controls or between cirrhotic patients with and without PVT. A pooled odds ratio or weighted mean difference with 95% confidence interval was calculated. RESULTS Of the 484 articles retrieved, 20 were included. BCS and non-cirrhotic PVT patients had a higher prevalence of homozygous MTHFR mutation than healthy controls. The difference was statistically significant in BCS patients, but not in non-cirrhotic PVT patients. BCS and non-cirrhotic PVT patients had a significantly higher prevalence of hyperhomocysteinemia and homocysteine level than healthy controls. Cirrhotic patients with PVT had a significantly higher prevalence of homozygous MTHFR mutation than those without PVT. However, the association between homocysteine level and PVT in cirrhotic patients was inconsistent among three studies. CONCLUSION Homozygous MTHFR mutation and hyperhomocysteinemia may be associated with the occurrence of BCS and non-cirrhotic PVT. In addition, homozygous MTHFR mutation may increase the risk of PVT in cirrhotic patients. However, the current evidence failed to support the association of hyperhomocysteinemia with PVT in cirrhotic patients.
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Affiliation(s)
- Xingshun Qi
- Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China; Department of Gastroenterology, no. 463 Hospital of Chinese PLA, Shenyang, China
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16
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Prevalence of portal vein thrombosis in Egyptian patients with Budd-Chiari syndrome. Indian J Gastroenterol 2014; 33:489-91. [PMID: 24927951 DOI: 10.1007/s12664-014-0483-x] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/10/2014] [Accepted: 05/24/2014] [Indexed: 02/04/2023]
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17
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Zhang P, Gao X, Zhang Y, Hu Y, Ma H, Wang W, Wang H, Zhang J, Xu H, Lu Z. Association between MTHFR C677T polymorphism and venous thromboembolism risk in the Chinese population: a meta-analysis of 24 case-controlled studies. Angiology 2014; 66:422-32. [PMID: 25149317 DOI: 10.1177/0003319714546368] [Citation(s) in RCA: 15] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/16/2022]
Abstract
The association between methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and venous thromboembolism (VTE) risk in the Chinese population has been widely reported, but results were inconsistent and underpowered. To elucidate the variable results, a meta-analysis and systematic review were performed from all case-controlled studies relating MTHFR C677T polymorphism by pooling data on them. We estimated the pooled odds ratio with its 95% confidence intervals to assess this possible association. Finally, a total of 24 studies with 2339 cases and 4048 controls were included in the current meta-analysis. Significant association was found with VTE risk for all genetic models. Subgroup analyses by type of VTE further identified the above-mentioned association in deep vein thrombosis/pulmonary embolism and splanchnic vein thrombosis. The findings from our meta-analysis support the associations of MTHFR C677T polymorphism with VTE risk in the Chinese population.
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Affiliation(s)
- Peijin Zhang
- Department of Public Health, Xuzhou Medical College, Xuzhou, Jiangsu, China
| | - Xiuyin Gao
- Department of Public Health, Xuzhou Medical College, Xuzhou, Jiangsu, China
| | - Yanyan Zhang
- Department of General Practice, Xuzhou Medical College, Xuzhou, Jiangsu, China
| | - Yuewen Hu
- Department of General Practice, Xuzhou Medical College, Xuzhou, Jiangsu, China
| | - He Ma
- Department of Public Health, Xuzhou Medical College, Xuzhou, Jiangsu, China
| | - Wei Wang
- Department of Public Health, Xuzhou Medical College, Xuzhou, Jiangsu, China
| | - Hui Wang
- Department of Public Health, Xuzhou Medical College, Xuzhou, Jiangsu, China
| | - Jing Zhang
- Department of Public Health, Xuzhou Medical College, Xuzhou, Jiangsu, China
| | - Hao Xu
- Department of Interventional Radiology, Affiliated Hospital of Xuzhou Medical College, Xuzhou, Jiangsu, China
| | - Zhaojun Lu
- Department of Public Health, Xuzhou Medical College, Xuzhou, Jiangsu, China
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18
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Pieri G, Theocharidou E, Burroughs AK. Liver in haematological disorders. Best Pract Res Clin Gastroenterol 2013; 27:513-30. [PMID: 24090939 DOI: 10.1016/j.bpg.2013.06.012] [Citation(s) in RCA: 15] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/15/2013] [Accepted: 06/28/2013] [Indexed: 01/31/2023]
Abstract
Prothrombotic haematological disorders, in particular myeloproliferative disorders, are identified in a significant proportion of patients with Budd-Chiari syndrome and portal vein thrombosis (PVT). Multiple prothrombotic disorders may coexist. PVT is diagnosed in one fourth of patients with cirrhosis and is more common with advanced liver disease and hepatocellular carcinoma. PVT in cirrhosis can precipitate decompensation. Intrahepatic microthrombosis may play a role in the pathogenesis of hepatic fibrosis. Sinusoidal obstruction syndrome is usually a complication of myeloablative treatment before haematopoietic stem cell transplantation. Post-transplant lymphoproliferative disorders can complicate liver transplantation and are related to Epstein-Barr virus infection. Hepatitis B reactivation in patients receiving chemotherapy for haematological malignancies is very common without pre-emptive treatment, and can lead to liver failure. Liver involvement is common in primary haematological diseases, such as haemolytic anaemias, lymphomas and leukaemia.
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Affiliation(s)
- Giulia Pieri
- The Royal Free Sheila Sherlock Liver Centre, Royal Free Hospital, Royal Free Hampstead NHS Trust and Institute of Liver and Digestive Health, University College London, Pond Street, NW3 2QG London, United Kingdom
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19
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Kalkan G, Karakus N, Yigit S. Association of MTHFR gene C677T mutation with recurrent aphthous stomatitis and number of oral ulcers. Clin Oral Investig 2013; 18:437-41. [DOI: 10.1007/s00784-013-0997-0] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/19/2012] [Accepted: 04/25/2013] [Indexed: 12/14/2022]
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20
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Yılmaz B, Köklü S, Bayraktar Y. Ulcerative colitis presenting with Budd-Chiari syndrome. J Crohns Colitis 2013; 7:e74-5. [PMID: 22854289 DOI: 10.1016/j.crohns.2012.07.005] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/05/2012] [Accepted: 07/06/2012] [Indexed: 02/08/2023]
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21
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Qi X, Wu F, Ren W, He C, Yin Z, Niu J, Bai M, Yang Z, Wu K, Fan D, Han G. Thrombotic risk factors in Chinese Budd-Chiari syndrome patients. An observational study with a systematic review of the literature. Thromb Haemost 2013; 109:878-84. [PMID: 23447059 DOI: 10.1160/th12-10-0784] [Citation(s) in RCA: 60] [Impact Index Per Article: 5.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/30/2012] [Accepted: 02/09/2013] [Indexed: 12/17/2022]
Abstract
In Western countries, thrombotic risk factors for Budd-Chiari syndrome (BCS) are very common, including factor V Leiden mutation, prothrombin G20210A mutation, myeloproliferative neoplasms, paroxysmal nocturnal haemoglobinuria, etc. However, the data regarding thrombotic risk factors in Chinese BCS patients are extremely limited. An observational study was conducted to examine this issue. A total of 246 BCS patients who were consecutively admitted to our department between July 1999 and December 2011 were invited to be examined for thrombotic risk factors. Of these, 169 patients were enrolled. Neither factor V Leiden mutation nor prothrombin G20210A mutation was found in any of 136 patients tested. JAK2 V617F mutation was positive in four of 169 patients tested. Neither MPL W515L/K mutation nor JAK2 exon 12 mutation was found in any of 135 patients tested. Overt myeloproliferative neoplasms were diagnosed in five patients (polycythemia vera, n=3; essential thrombocythemia, n=1; idiopathic myelofibrosis, n=1). Two of them had positive JAK2 V617F mutation. Both CD55 and CD59 deficiencies were found in one of 166 patients tested. This patient had a previous history of paroxysmal nocturnal haemo-globinuria before BCS. Anticardiolipin IgG antibodies were positive or weakly positive in six of 166 patients tested. Hyperhomocysteinaemia was found in 64 of 128 patients tested. 5,10-methylenetetrahydrofolate reductase C677T mutation was found in 96 of 135 patients tested. In conclusion, factor V Leiden mutation, prothrombin G20210A mutation, myeloproliferative neoplasms, and paroxysmal nocturnal haemoglobinuria are very rare in Chinese BCS patients, suggesting that the etiological distribution of BCS might be different between Western countries and China.
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Affiliation(s)
- X Qi
- Department of Liver Disease and Digestive Interventional Radiology, Xijing Hospital of Digestive Diseases, No. 27 Changle West Road, Xi'an, China
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22
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Qi X, Zhang C, Han G, Zhang W, He C, Yin Z, Liu Z, Bai W, Li R, Bai M, Yang Z, Wu K, Fan D. Prevalence of the JAK2V617F mutation in Chinese patients with Budd-Chiari syndrome and portal vein thrombosis: a prospective study. J Gastroenterol Hepatol 2012; 27:1036-43. [PMID: 22142461 DOI: 10.1111/j.1440-1746.2011.07040.x] [Citation(s) in RCA: 54] [Impact Index Per Article: 4.2] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/05/2023]
Abstract
BACKGROUND AND AIM Whether routine screening for the JAK2V617F mutation should be performed in Chinese patients with Budd-Chiari syndrome (BCS) and portal vein thrombosis (PVT) is unclear. Therefore, we aimed to evaluate the prevalence of the JAK2V617F mutation in such patients and to explore the risk factors associated with the mutation. METHODS All consecutive patients with BCS and PVT diagnosed between September 2009 and May 2011 were prospectively enrolled in the observational study and underwent the JAK2V617F mutation detection. RESULTS Prevalence of the JAK2V617F mutation was 4.3% (4/92) in patients with primary BCS, 26.6% (17/64) in non-malignant and non-cirrhotic patients with PVT, and 1.4% (1/71) in cirrhotic patients with PVT. All BCS patients with the JAK2V617F mutation had both platelet count (PLT) of above 100 × 10(9) /L (range, 107-188 × 10(9) /L) and splenomegaly. In non-malignant and non-cirrhotic patients with PVT, higher PLT and older ages were the independent predictors of the JAK2V617F mutation. Further, the difference in PLT between the patients with and without the mutation displayed greater significance in the subgroup of patients with splenomegaly (P < 0.0001), but the statistical significance disappeared in the subgroup of patients with splenectomy (P = 0.1312). CONCLUSIONS The low prevalence of the JAK2V617F mutation in patients with BCS suggests that myeloproliferative neoplasm should be an uncommon etiological factor of BCS in China. Routine screening for the JAK2V617F mutation might be recommended in non-malignant and non-cirrhotic patients with PVT, but not in cirrhotic patients with PVT. The coexistence of higher PLT and splenomegaly might be closely associated with the JAK2V617F mutation.
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Affiliation(s)
- Xingshun Qi
- Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China
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Sakr M, Barakat E, Abdelhakam S, Dabbous H, Yousuf S, Shaker M, Eldorry A. Epidemiological aspects of Budd-Chiari in Egyptian patients: A single-center study. World J Gastroenterol 2011; 17:4704-10. [PMID: 22180713 PMCID: PMC3233677 DOI: 10.3748/wjg.v17.i42.4704] [Citation(s) in RCA: 23] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/13/2011] [Revised: 07/28/2011] [Accepted: 08/04/2011] [Indexed: 02/06/2023] Open
Abstract
AIM: To describe the socio-demographic features, etiology, and risk factors for Budd-Chiari syndrome (BCS) in Egyptian patients.
METHODS: Ninety-four Egyptian patients with confirmed primary Budd-Chiari syndrome were presented to the Budd-Chiari Study Group (BCSG) and admitted to the Tropical Medicine Department of Ain Shams University Hospital (Cairo, Egypt). Complete clinical evaluation and laboratory investigations, including a thrombophilia workup and full radiological assessment, were performed to determine underlying disease etiologies.
RESULTS: BCS was chronic in 79.8% of patients, acute or subacute in 19.1%, and fulminant in 1.1%. Factor V Leiden mutation (FVLM) was the most common etiological cause of disease (53.1%), followed by mutation of the gene encoding methylene tetrahydrofolate reductase (MTHFR) (51.6%). Current or recent hormonal treatment was documented in 15.5% of females, and BCS associated with pregnancy was present in 17.2% of females. Etiology could not be determined in 8.5% of patients. Males had significantly higher rates of MTHFR gene mutation and Behçet’s disease, and females had significantly higher rates of secondary antiphospholipid antibody syndrome. A highly significant positive relationship was evident between the presence of Behçet’s disease and inferior vena caval occlusion, either alone or combined with occlusion of the hepatic veins (P < 0.0001).
CONCLUSION: FVLM is the most common disease etiology and MTHFR the second most common in Egyptian BCS patients. BCS etiology tends to vary with geographic region.
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Thrombophilic dimension of Budd chiari syndrome and portal venous thrombosis – A concise review. Thromb Res 2011; 127:505-12. [DOI: 10.1016/j.thromres.2010.09.019] [Citation(s) in RCA: 32] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/30/2010] [Revised: 07/27/2010] [Accepted: 09/21/2010] [Indexed: 01/08/2023]
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26
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APOE, MTHFR, LDLR and ACE Polymorphisms Among Angami and Lotha Naga Populations of Nagaland, India. J Community Health 2011; 36:975-85. [DOI: 10.1007/s10900-011-9397-z] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/18/2022]
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27
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Vayá A, Plumé G, Bonet E, Carrasco P, Morales-Suárez-Varela MM. Hyperhomocysteinemia and the methylene tetrahydrofolate reductase C677T mutation in splanchnic vein thrombosis. Eur J Haematol 2010; 86:167-72. [DOI: 10.1111/j.1600-0609.2010.01551.x] [Citation(s) in RCA: 9] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/23/2022]
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Abstract
This guideline has been approved by the American Association for the Study of Liver Diseases (AASLD) and represents the position of the association.
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Affiliation(s)
- Laurie D DeLeve
- Division of Gastrointestinal and Liver Diseases and the Research Center for Liver Diseases, University of Southern California Keck School of Medicine, Los Angeles, CA, USA
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30
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Bittencourt PL, Couto CA, Ribeiro DD. Portal vein thrombosis and budd-Chiari syndrome. Clin Liver Dis 2009; 13:127-144. [PMID: 19150317 DOI: 10.1016/j.cld.2008.10.002] [Citation(s) in RCA: 19] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/31/2023]
Abstract
Venous thrombosis results from the convergence of vessel wall injury and/or venous stasis, known as local triggering factors, and the occurrence of acquired and/or inherited thrombophilia, also known as systemic prothrombotic risk factors. Portal vein thrombosis (PVT) and Budd-Chiari syndrome (BCS) are caused by thrombosis and/or obstruction of the extrahepatic portal veins and the hepatic venous outflow tract, respectively. Several divergent prothrombotic disorders may underlie these distinct forms of large vessel thrombosis. While cirrhotic PVT is relatively common, especially in advanced liver disease, noncirrhotic and nontumoral PVT is rare and BCS is of intermediate incidence. In this article, we review pathogenic mechanisms and current concepts of patient management.
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Affiliation(s)
| | - Cláudia Alves Couto
- Alfa Gastroenterology Institute, Federal University of Minas Gerais, Belo Horizonte, Minas Gerais, Brazil
| | - Daniel Dias Ribeiro
- Alfa Gastroenterology Institute, Federal University of Minas Gerais, Belo Horizonte, Minas Gerais, Brazil; Department of Hematology, Federal University of Minas Gerais, Belo Horizonte, Minas Gerais, Brazil
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31
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Ozbek N, Alioglu B, Avci Z, Malbora B, Onay O, Ozyurek E, Atac FB. Incidence of and risk factors for childhood thrombosis: a single-center experience in Ankara, Turkey. Pediatr Hematol Oncol 2009; 26:11-29. [PMID: 19206005 DOI: 10.1080/08880010802423969] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 10/21/2022]
Abstract
This study was conducted to analyze the incidence of and risk for thrombosis in thrombotic children monitored in the Department of Pediatric Hematology of our hospital at the time of diagnosis, in addition to the clinical characteristics of those patients. The clinical and laboratory findings of 122 patients diagnosed with thrombosis from 1997 to 2006 were retrospectively analyzed. The incidence of thrombosis was 88.6/10,000 hospital admissions. The authors found that 31.1% of the patients studied had a thrombosis in more than 1 region. The incidence of thrombosis by anatomic site was as follows: 42 thromboses in the peripheral arterial system, 39 in an intracardiac region, 38 in the abdominal venous system, 36 in the deep peripheral venous system, and 28 in the cerebral vascular system. The mean age of the patients at the time of diagnosis was 4.9 years. Of the patients studied, 10.7% were neonates, 35.3% were infants younger than 1 year, and 48.4% were younger than 2 years. Most of the patients had a congenital cardiac disease and spontaneous thrombosis, and 66.1% had at least 1 acquired risk factor, the most common of which were having undergone surgery (42%) or wearing a central venous catheter (39%). A hereditary factor for the development of thrombosis was present in 54% of the patients. The most frequently observed hereditary risk factor was the MTHFR 677C-T mutation, and the second most common was the factor V Leiden mutation. Thrombosis should be considered a systemic disorder, and thrombotic patients should be evaluated with appropriate methods. Acquired and hereditary risk factors should be analyzed systematically in thrombotic patients.
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Affiliation(s)
- Namik Ozbek
- Department of Pediatric Hematology, Baskent University Faculty of Medicine, Ankara, Turkey
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Dutta AK, Chacko A, George B, Joseph JA, Nair SC, Mathews V. Risk factors of thrombosis in abdominal veins. World J Gastroenterol 2008; 14:4518-22. [PMID: 18680232 PMCID: PMC2731279 DOI: 10.3748/wjg.14.4518] [Citation(s) in RCA: 11] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/06/2023] Open
Abstract
AIM: To estimate the prevalence of inherited and acquired thrombophilic risk factors in patients with abdominal venous thrombosis and to compare the risk factor profiles between Budd-Chiari syndromes (BCS) and splanchnic vein thrombosis (SVT).
METHODS: In this retrospective study, 36 patients with abdominal venous thrombosis were studied. The patients were divided into Budd-Chiari group (hepatic vein, IVC thrombosis) and splanchnic venous thrombosis group (portal, splenic, superior mesenteric veins) based on the veins involved. Hereditary and acquired thrombophilic risk factors were evaluated in all patients.
RESULTS: Twenty patients had SVT, 14 had BCS, and 2 had mixed venous thrombosis. Ten patients (28%) had hereditary and 10 patients (28%) acquired thrombophilic risk factors. The acquired risk factors were significantly more common in the SVT group (SVT vs BCS: 45% vs 7%, χ2 = 5.7, P = 0.02) while hereditary risk factors did not show significant differences between the two groups (SVT vs BCS: 25% vs 36%, χ2 = 0.46, P = 0.7). Multiple risk factors were present in one (7%) patient with BCS and in 3 patients (15%) with SVT. No risk factors were identified in 57% of patients with BCS and in 45% of patients with SVT.
CONCLUSION: Hereditary and acquired risk factors play an important role in the etiopathogenesis of abdominal venous thrombosis. Acquired risk factors are significantly more common in SVT patients while hereditary factors are similar in both groups.
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Akbaş T, Imeryüz N, Bayalan F, Baltacioğlu F, Atagündüz P, Mülazimoğlu L, Direskeneli H. A case of Budd–Chiari syndrome with Behcet’s disease and oral contraceptive usage. Rheumatol Int 2007; 28:83-6. [PMID: 17576562 DOI: 10.1007/s00296-007-0377-7] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/20/2007] [Accepted: 05/19/2007] [Indexed: 11/30/2022]
Abstract
We present a case of Budd-Chiari syndrome (BCS) having two risk factors, Behcet's disease (BD) and oral contraceptive (OC) usage. A 33-year-old woman with BD was admitted to the Emergency Unit with nausea, vomiting, abdominal pain, abdominal distention, and confusion started 12 days ago before admission. Since the patient was in a shock state, she was taken to the Intensive Care Unit (ICU) with the suspicion of abdomen-originated sepsis. Abdominal ultrasound showed massive hepatosplenomegaly and moderate ascites. Abdominal MRI revealed an inferior vena cava (IVC) obstruction starting above the renal veins and diffuse thrombosis of the right and medial hepatic veins. An extensive thrombosis of the IVC and the hepatic veins (BCS) which led to shock was diagnosed. In addition to BD, the unnotified OC usage for a year by the patient without her doctor's knowledge was recognized as possible precipitating factor of BCS. Pulse methylprenisolone was started for three consecutive days to treat active BD-induced vasculitis. IVC digital subtraction angiography (DSA) showed occlusion of the IVC below the hepatic veins with extensive collateral circulation originating at the occlusion level suggesting that obliteration had a subacute or chronic course. Since intralesional thrombolytic therapy failed, the patient was transferred to a liver transplantation center. While waiting for an appropriate donor, the patient died due to hepatic failure. Since BCS is mortal and deemed multi-factorial, every patient with a thrombotic risk factor such as BD should be questioned for other possible causes of thrombosis.
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Affiliation(s)
- Türkay Akbaş
- Department of Internal Medicine and Critical Care Unit, Marmara University School of Medicine, Istanbul, Turkey
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Abstract
It has been recognized, since the first description of the disease, that arterial and venous thrombosis are common in patients with homocysteinuria. Interest in the condition increased with reports from a large number of mainly retrospective studies showing that mildly elevated homocysteine levels are also associated with venous thromboembolism (VTE), thrombotic stroke, and peripheral vascular disease. This association is less strong when populations are studied prospectively. Vitamin supplementation, primarily with folic acid, and to a lesser degree with pyridoxine and vitamin B(12), is effective in reducing elevated levels of plasma homocysteine. Surprisingly, however, recent prospective intervention studies showed that despite lowering of the homocysteine level with such treatment, there was no impact on the risk of recurrence of venous or arterial disease.
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Affiliation(s)
- Alex Gatt
- Sheffield Haemophilia and Thrombosis Centre, Royal Hallamshire Hospital, Sheffield, UK
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Cardoso R, Gonçalo M, Tellechea O, Maia R, Borges C, Silva JAP, Figueiredo A. Livedoid vasculopathy and hypercoagulability in a patient with primary Sjögren's syndrome. Int J Dermatol 2007; 46:431-4. [PMID: 17442092 DOI: 10.1111/j.1365-4632.2007.03229.x] [Citation(s) in RCA: 37] [Impact Index Per Article: 2.1] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/01/2022]
Abstract
BACKGROUND A 31-year-old woman presented with a 5-year history of painful ulcerations, palpable purpura, porcelain-white atrophic scars of the malleolar region and dorsal aspect of the feet, livedo reticularis on the limbs, arthralgia, xerophthalmia, and xerostomia. METHODS Skin biopsy revealed vessel wall hyalinization and thrombosis of the microvasculature with a very scarce dermal inflammatory infiltrate. Biopsy of the oral mucosa showed mononuclear infiltration of an intralobular duct of a salivary gland. RESULTS Laboratory studies, including autoantibodies and inflammation markers, were normal, except for a positive rheumatoid factor. Coagulation screening revealed C677T methylenetetrahydrofolate reductase (MTHFR) mutation, with a normal serum homocysteine. The patient was treated with oral methylprednisolone (32 mg/day with progressive reduction) and enoxaparin (20 mg/day subcutaneously), with complete ulcer healing within 4 months. CONCLUSION Livedoid vasculitis or vasculopathy has not been referred to previously in association with Sjögren's syndrome, but may be associated with other autoimmune disorders and anomalies of coagulation, namely factor V Leiden mutation, protein C deficiency, and MTHFR mutation, associated or not with hyperhomocysteinemia, a condition that seems to confer an increased risk of recurrent arterial and venous thrombosis. We stress the importance of anticoagulant therapy for ulcer healing and for the prevention of other thrombotic events.
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Affiliation(s)
- Raquel Cardoso
- Clinics of Dermatology, Hematology, and Rheumatology, University Hospital, Coimbra, Portugal.
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Colak Y, Karasu Z, Oruc N, Can C, Balým Z, Akarca U, Gunsar F, Ersoz G, Tokat Y, Batur Y. Hyperhomocysteinaemia and factor V Leiden mutation are associated with Budd-Chiari syndrome. Eur J Gastroenterol Hepatol 2006; 18:917-20. [PMID: 16825912 DOI: 10.1097/00042737-200608000-00019] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/10/2022]
Abstract
OBJECTIVES Budd-Chiari syndrome (BCS) is characterized by hepatic venous outflow obstruction and may be caused by various prothrombotic disorders. We aimed to study the role of hyperhomocysteinaemia, factor V Leiden mutation and G20210A prothrombin gene mutation in the pathogenesis of the syndrome. METHODS Thirty-two patients (16 male, 16 female, aged 19-45 years) with angiographically verified BCS and 33 age-matched and sex-matched voluntary healthy controls (15 male, 18 female, aged 19-45 years) were included into the study. Factor V Leiden and prothrombin gene mutations were determined in extracted DNA from peripheric mononuclear cells, using a light cycler amplification system. Plasma homocysteine levels were measured by fluorescence polarization immunoassay. RESULTS The homozygote factor V Leiden mutation was diagnosed in four BCS patients and the heterozygote mutation was diagnosed in five. The frequency of the mutant allele was 20.3% in BCS patients and 7.6% in the controls (P < 0.05). There was no significant difference in prothrombin gene mutation frequency between the two groups. Serum homocysteine levels were significantly higher in the BCS group than in the controls (16.4 +/- 8.8 vs 11.0 +/- 2.7 micromol/l; P < 0.01). BCS patients with the mutant factor V Leiden allele have significantly higher levels of serum homocysteine (22.1 +/- 13.3 vs 14.4 +/- 5.9 mumol/l; P < 0.05). CONCLUSIONS Hyperhomocysteinaemia, especially when associated with the factor V Leiden mutation, is an important risk factor for the development of BCS.
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Affiliation(s)
- Yusuf Colak
- Department of Gastroenterology, Ege University Medical School, Izmir, Turkey
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Otrock ZK, Sharara AI, Mahfouz RAR, Taher AT. Compound heterozygosity for factor V and methylenetetrahydrofolate reductase mutations in a patient with Budd-Chiari syndrome. J Gastroenterol Hepatol 2006; 21:782-3. [PMID: 16677174 DOI: 10.1111/j.1440-1746.2006.04248.x] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/09/2022]
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Barada KA, Azar CR, Otrock ZK, Taher AT. Budd-Chiari syndrome with underlying homozygous factor V Leiden and heterozygous methylenetetrahydrofolate reductase mutations. J Gastroenterol 2005; 40:1002-3. [PMID: 16261441 DOI: 10.1007/s00535-005-1664-2] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/09/2005] [Accepted: 04/27/2005] [Indexed: 02/04/2023]
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Abstract
Budd-Chiari syndrome (BCS) is a rare but potentially life-threatening disorder caused by hepatic venous obstruction, distinct from cardiac causes of hepatic congestion or sinusoidal obstruction syndrome (formerly known as veno-occlusive disease). BCS may be classified as primary or secondary, depending on the underlying process. Most cases of primary BCS are due to an underlying hypercoagulable disorder. A high index of suspicion is required to make the diagnosis. In most case series, chronic, indolent cases of BCS are more common than acute presentations. Doppler ultrasound, magnetic resonance imaging (MRI), and direct venography are useful in confirming the diagnosis. Systemic anticoagulation should be started expeditiously, as long as there are no contraindications. The use of systemic thrombolysis remains controversial. However, thrombolysis may prove effective when it is administered locally following hepatic venoplasty with or without stenting. Guidelines for the management of more complex cases and of patients who fail medical management are currently in evolution. Budd-Chiari syndrome (BCS) is potentially life-threatening, depending on the extent and rapidity of hepatic venous obstruction. A high index of suspicion is required to clinch the diagnosis, since BCS may be quite indolent or even asymptomatic. Doppler ultrasound or magnetic resonance imaging (MRI) is usually definitive. Systemic anticoagulation should be offered to all patients, unless contraindicated. The role of thrombolysis in BCS remains controversial, and thus it should be reserved for cases undergoing hepatic decompression via percutaneous angioplasty. Guidelines for the management of cases who fail standard medical management are currently in evolution.
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Karageorgiou H, Mookerjee RP, Patani NR, Pachiadakis I, Usiskin SI, Gillams A, Lees WR, Williams R, Douek M, Jalan R. 'Nipped in the Budd': hepatic venous outflow obstruction in evolution. Eur J Gastroenterol Hepatol 2005; 17:65-8. [PMID: 15647643 DOI: 10.1097/00042737-200501000-00013] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/10/2022]
Abstract
Hepatic venous thrombosis (Budd-Chiari) in evolution is a rare phenomenon and carries a high morbidity and mortality. We describe the case of a 39-year-old Bangladeshi lady who presented with severe abdominal pain secondary to a perforated duodenal ulcer and during her hospital admission developed an asymptomatic Budd-Chiari syndrome (BCS). Our report highlights the important role of an inflammatory focus, and how this process with an associated reactive thrombocytosis may act as a trigger for the development of BCS in an individual with predisposing risk factors. Our patient had been on the contraceptive pill, and was homozygous for the C677T mutation of 5,10-methylenetetrahydrofolate reductase, which results in hyperhomocysteinaemia. These pro-thrombotic risk factors were compounded by the thrombogenic potential of subsequent laparoscopic surgery, and resulted in an evolving thrombus that progressed into the inferior vena cava causing hepatic infarction. A particular feature of this case was the radiological demonstration of complete regression of the thrombus and the hepatic parenchymal changes, upon resolution of the inflammation and normalization of the platelet count. These changes occurred with oral anticoagulation as the only treatment modality, since our patient declined systemic thrombolysis. The demonstration of complete radiological resolution raises the question of how long one should continue oral anticoagulants and, indeed, whether in some instances a conservative approach may be the best management strategy for evolving BCS.
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Affiliation(s)
- Haris Karageorgiou
- Gastroenterology & Hepatology Unit, Department of Gastroenterology, University College London Hospitals, London, UK
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Abstract
Polycythemia vera (PV) and essential thrombocythemia (ET) are two myeloproliferative disorders (MPDs) with frequent thrombotic and hemorrhagic complications. Thrombosis is often the cause of mortality in PV and ET; hemorrhage occurs more commonly in idiopathic myelofibrosis patients, but is rarely fatal. Thromboses may occur in arteries or veins. Splanchnic, portal, hepatic, and splenic vein thromboses are not uncommon and thrombosis is also thought to cause placental vascular insufficiency and fetal wastage during pregnancies in MPD patients. These complications may result because of altered interactions between platelets, white blood cells, or endothelial cells, due to either altered receptor expression, receptor-ligand interactions, or signaling events. Age, leukocytosis, increased hematocrit, and a history of thrombotic events are risk factors for thrombosis. In determining a link between clonality and thrombosis using X-chromosome inactivation patterns in patients with ET, those who were polyclonal were less likely to experience thromboses. The search for hypercoagulability in these patients led to identification of changes in the expression patterns of coagulation proteins from the coagulation cascade. Mutations in factor V Leiden were examined and the incidence of mutations did not vary between normal and MPD patients. However, mutations in factor V Leiden were found to be risk factors for venous thrombotic events. Similarly, presence of a prothrombin gene mutation showed a higher risk for venous thromboembolic events. Proteolyzed thrombospondin appeared to contribute to hypercoagulability, and acquired von Willebrand factor disorder gave rise to hemorrhagic complications. These findings provide several potential reasons for thrombotic and hemorrhagic complications in MPD patients. Therefore, the best therapy for these patients is reduction of their platelet counts to less than 450,000/microL and close regulation of their hematocrits. The role of leukocytosis in bleeding or hemorrhage in this population remains to be elucidated.
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Affiliation(s)
- Craig M Kessler
- Vincent T Lombardi Cancer Center, MedStar Georgetown Medical Center, Washington, DC 20007-2197, USA
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Abstract
Shunting and transplantation are satisfactory methods of treating Budd-Chiari syndrome (BCS). Selection of treatment is based on the degree of hepatic injury (clinical settings), liver biopsy results, potential for parenchymal recovery, and pressure measurements. Shunting is recommended in cases of preserved hepatic function and architecture. In the presence of fulminant forms of BCS, in cases of established cirrhosis or frank fibrosis, or for patients with defined hepatic metabolic defects (e.g., protein C or protein S deficiency), liver transplantation is the treatment of choice. Nonsurgical alternatives, although encouraging, have limited long-term outcome results at the present time. In most cases of BCS, a thrombophilic disorder can be identified. However, it is important to note that postoperative vascular thrombosis has been identified in patients with BCS who do not have a definable hypercoagulable predisposition. It therefore is our practice to recommend early (<24 hours postoperatively) initiation of intravenous heparin therapy in all patients with BCS, who then undergo life-long anticoagulation with coumadin.
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Affiliation(s)
- Andrew S Klein
- Department of Surgery, Division of Transplantation, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
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