• DGAT1 deficiency
• Diarrhea
• Fat-restricted nutrition
• Immunodeficiency
• Survival

• endoscopy
• primary intestinal lymphangiectasia
• protein losing enteropathy

• Humans
• Lymphography/methods
• Contrast Media
• Tomography, X-Ray Computed/methods
• Lymphatic Diseases/diagnostic imaging
• Chylous Ascites/diagnostic imaging
• Chylothorax/diagnostic imaging

• SLCO2A1
• Chronic enteropathy
• Hypoproteinaemia
• Refractory iron deficiency anaemia

• Humans
• Male
• Adolescent
• Anemia, Iron-Deficiency/genetics
• Organic Anion Transporters/genetics
• Mutation, Missense
• Chronic Disease

• Humans
• Intestine, Small/immunology
• Celiac Disease/genetics
• Celiac Disease/immunology
• Intestinal Diseases/immunology
• Intestinal Diseases/genetics
• Crohn Disease/genetics
• Crohn Disease/immunology
• Intestinal Mucosa/immunology

• endoscopy duodenal biopsy
• gastrointestinal disorder
• medium-chain triglycerides
• nutritional therapy
• primary intestinal lymphangiectasia
• protein-losing enteropathy
• refractory edema

• Humans
• Infant, Newborn
• Agammaglobulinemia/complications
• Male
• Female
• Immunoglobulins, Intravenous/therapeutic use
• Immunoglobulin G/blood

• Humans
• Child
• Practice Guidelines as Topic
• Splenectomy
• Spleen/abnormalities
• Infections/etiology
• Infections/complications
• Anti-Bacterial Agents/therapeutic use
• Anti-Bacterial Agents/administration & dosage
• Bacterial Infections/prevention & control

• Intestinal lymphatics
• Lacteals
• Lymph
• Lymphangiectasia
• Waldman's disease

• Denver peritoneovenous shunt
• abdominal-superior vena cava shunt
• ascites filtration therapy
• primary intestinal lymphangiectasia

• Humans
• Male
• Middle Aged
• Lymphangiectasis, Intestinal/complications
• Lymphangiectasis, Intestinal/surgery
• Lymphangiectasis, Intestinal/diagnosis
• Peritoneovenous Shunt
• Ascites/etiology
• Treatment Outcome

• Waldmann
• alpha 1‐antitrypsin
• lymphedema

• Humans
• Lymphangiectasis, Intestinal/diagnosis
• Lymphangiectasis, Intestinal/complications
• Lymphangiectasis, Intestinal/diet therapy
• Male
• Female

• None

• hypomagnesemia
• primary intestinal lymphangiectasia
• tetany
• vitamin D deficiency

• Diagnosis
• Primary intestinal lymphangiectasia in adults
• Prognosis
• Protein-losing enteropathy
• Treatment

• Abdominal radiology
• Lymphangiectasia
• Misty mesentery

• Celiac
• Hennekam
• Waldmann's
• lymphangiectasia
• lymphedema

• Humans
• Lymphangiectasis, Intestinal/diagnosis
• Lymphangiectasis, Intestinal/therapy

• case report
• edema
• gastrointestinal
• primary intestinal lymphangiectasia

• bowel obstruction
• intussusception
• lymph
• lymphangiectasia
• lymphatic malformation
• lymphatics
•  colonoscopy

• cytomegalovirus
• endoscopy
• generalised oedema
• immunosuppressed
• protein-losing enteropathy

• chronic abdominal pain
• intestinal lymphangiectasia
• lymphatic
• polypoid lesion
• sigmoid colon

• enteral
• enteral formulas
• formula
• medical food
• nutrition support
• tube feeding

• canine chronic enteropathies
• coconut oil
• dog fecal microbiota
• fecal fatty acids
• fecal sterols
• medium-chain fatty acids
• medium-chain triglycerides

• Cinnamomum camphora seed kernel oil
• acute oral toxicity
• genotoxicity assessment
• medium chain oil
• safety assessment

• 2011DFA32770 China International Science and Technology Cooperation
• 31701651 National Natural Science Foundation of China
• 32060516 National Natural Science Foundation of China
• 20143ACG70015 the Science and Technology Program of Jiangxi Province
• 20212ZDD02008 the Central Government Guide Local Special Fund Project for Scientific and Technological De-velopment of Jiangxi Province
• 20221ZDD02001 the Central Government Guide Local Special Fund Project for Scientific and Technological De-velopment of Jiangxi Province
• SKLF-ZZA-201910 State Key Laboratory of Food Science and Technology
• SKLF-ZZB-201916 State Key Laboratory of Food Science and Technology
• SKLF-ZZB-202135 State Key Laboratory of Food Science and Technology

Whipple’s disease is a rare systemic infection caused by Tropheryma whipplei. Most patients present with nonspecific symptoms, and routine laboratory and imaging examination results also lack specificity. The diagnosis often relies on invasive manipulation, pathological examination, and molecular techniques. These difficulties in diagnosing Whipple’s disease often result in misdiagnosis and inappropriate treatments.

This paper reports on the case of a 58-year-old male patient who complained of fatigue and decreased exercise capacity. The results of routine blood tests indicated hypochromic microcytic anemia. Results of gastroscopy and capsule endoscopy showed multiple polypoid bulges distributed in the duodenal and proximal jejunum. A diagnosis of small intestinal adenomatosis was initially considered; hence, the Whipple procedure, a pylorus-preserving pancreaticoduodenectomy, was performed. Pathological manifestations showed many periodic acid-Schiff-positive macrophages aggregated in the intestinal mucosa of the duodenum, upper jejunum, and surrounding lymph nodes. Based on comprehensive analysis of symptoms, laboratory findings, and pathological manifestations, the patient was finally diagnosed with Whipple’s disease. After receiving 1 mo of antibiotic treatment, the fatigue and anemia were significantly improved.

This case presented with atypical gastrointestinal manifestations and small intestinal polypoid bulges, which provided new insight on the diagnosis of Whipple’s disease.

• Whipple’s disease
• Whipple operation
• Endoscopy
• Tropheryma whipplei
• PAS staining
• Intestinal polyposis
• Case report

• genital
• lymphedema
• surgery
• treatment

• canine
• intestinal lymphangiectasia
• protein-losing enteropathy

• chylothorax
• chylous ascites
• chylous effusion

• Endoscopic features
• Pathology
• Post-lymphangiographic computed tomography
• Primary intestinal lymphangiectasia

• Edema/etiology
• Endoscopy, Gastrointestinal/adverse effects
• Humans
• Intestine, Small/pathology
• Lymphangiectasis, Intestinal/diagnostic imaging
• Lymphangiectasis, Intestinal/pathology
• Retrospective Studies
• Tomography, X-Ray Computed/methods

• Waldmann's disease
• intestinal lymphangiectasia
• medium‐chain triglycerides
• protein‐losing enteropathy

• cancer
• inflammation
• inflammatory bowel disease
• lymphatic vasculature
• macrophages

• Anti-Inflammatory Agents
• Humans
• Immunosuppression Therapy
• Lymphatic Vessels
• Lymphedema
• Macrophages

Bisphenol F is a substitute material for bisphenol A and is widely used in household products as a raw material for polycarbonate resin, epoxy resin, and plastic reinforcement. It is known to be mainly used in food containers, thermal paper for receipts, and coatings for water pipes. In some countries, bisphenol F has been detected in drinking water and human urine samples. However, due to the lack of safety evaluation data on bisphenol F, it is difficult to establish appropriate guidelines for the proper use of the substance, and social anxiety is increasing accordingly. This study investigated the use, exposure route, and distribution flow of bisphenol F, a household chemical. To determine the no-observed-adverse-effect level (NOAEL) and target organ of bisphenol F after exposure, a single-dose oral toxicity, dose-range finding (28 day oral), repeated dose toxicity (90 day oral), and genotoxicity (reverse mutation, chromosomal abnormality, in vivo micronucleus test) tests were performed. The pharmacokinetic profile was also obtained. The test results are as follows: in the pharmacokinetic study, it was confirmed that single oral exposure to BPF resulted in systemic exposure; in single oral dose toxicity test, the approximate lethal dose was found to be 4000 mg/kg and confusion and convulsion was shown in the test animals; NOAEL was determined to be 2 mg/kg/day for male and 5 mg/kg/day for female, and the no-observed-effect level (NOEL) was determined to be 2 mg/kg/day for males and 1 mg/kg/day for females, and the target organ was the small intestine; genotoxicity tests confirmed that BPF does not induce genotoxicity.

• Bisphenol F
• Genotoxicity
• Household chemicals
• Pharmacokinetics
• Repeated exposure toxicity

The complement system regulator CD55 was initially found to carry the Cromer blood group system antigens, and its complete loss of function was subsequently revealed to cause a severe monogenic gastrointestinal syndrome characterized by protein-losing enteropathy and susceptibility to venous thrombosis. Here we present homozygosity to the CD55 c.596C>T; p.Ser199Leu variant, which was previously described as the Cromer Dr(a−) genotype, in two Bukharan Jewish CD55-deficiency patients with variable disease severity. We confirm that this missense variant causes aberrant splicing and deletion of 44 bp in exon 5, leading to premature termination and low expression of the CD55 protein. Furthermore, Patient 1 exhibited a mildly abnormal B cell immunophenotyping profile. By population screening we established that this variant is highly prevalent in the Bukharan Jewish population, with a carrier frequency of 1:17, suggesting that many similar patients are un- or mis-diagnosed. The phenotypic variability, ranging from abdominal pain when eating a high-fat diet to the full CD55-deficiency phenotype, is likely related to modifiers affecting the proportion of the variant that is able to escape aberrant splicing. Establishing the diagnosis of CD55-deficiency in a timely manner, even in patients with milder symptoms, may have a critical effect on their management and quality-of-life since treatment with the complement inhibitor eculizumab is highly effective in ameliorating disease manifestations. Awareness of founder mutations within certain populations can further guide genetic testing and prevent a diagnostic odyssey, by placing this CD55 variant high on the differential diagnosis.

• GVHD
• congenital disorders
• histopathology
• immunodeficiencies
• intestinal lymphangiectasia
• necrotizing enterocolitis
• pediatric diseases
• small bowel

• Child
• Duodenum
• Enterocolitis, Necrotizing
• Humans
• Infant, Newborn
• Intestine, Small

• bronchial casts
• chyloptysis
• chylorrea
• thoracic duct ligation

• Chyle
• Chylothorax/diagnosis
• Chylothorax/etiology
• Chylothorax/surgery
• Cough
• Female
• Humans
• Ligation
• Middle Aged
• Sputum
• Thoracic Duct/surgery

Primary intestinal lymphangiectasia (PIL) is a rare protein-losing enteropathy characterized by the loss of proteins, lymphocytes, and immunoglobulins into the intestinal lumen. Increasing evidence has demonstrated an association between PIL and lymphoma.

A 54-year-old man with a 20-year history of abdominal distension and bilateral lower limb edema was admitted. Laboratory investigations revealed lymphopenia, hypoalbuminemia, decreased triglyceride and cholesterol level. Colonoscopy showed multiple smooth pseudo polyps in the ileocecal valve and terminal ileum and histological examination showed conspicuous dilation of the lymphatic channels in the mucosa and submucosa. A diagnosis of PIL was made. Three years later colonoscopy of the patient showed an intraluminal proliferative mass in the ascending colon and biopsy examination confirmed a malignant non-Hodgkin lymphoma. Then the patient was been underwent chemotherapy, and his clinical condition is satisfactory.

Our report supports the hypothesis that PIL is associated with lymphoma development.

• Lymphoma
• Primary intestinal lymphangiectasia
• Protein-losing enteropathy

Disseminated Mycobacterium avium complex infection is an important indicator of acquired immunodeficiency syndrome (AIDS) in patients with advanced human immunodeficiency virus (HIV) infection. Effective antiretroviral therapy has dramatically reduced the incidence of and mortality due to HIV infection, although drug resistance and poor medication adherence continue to increase the risk of disseminated M. avium complex infection. However, gastrointestinal lesions in cases of disseminated M. avium complex infection resulting in protein-losing enteropathy have been rarely discussed. Therefore, we present a case of protein-losing enteropathy caused by disseminated M. avium complex infection in a patient undergoing antiretroviral therapy.

A 29-year-old man was diagnosed with AIDS 4 years ago and was admitted for a 10-month history of refractory diarrhea and fever. Despite receiving antiretroviral therapy, the viral load remained elevated due to poor medication adherence. The patient was diagnosed with disseminated M. avium complex infection and started on antimycobacterial drugs 2 years before admission. However, the infection remained uncontrolled. The previous hospitalization 1 year before admission was due to hypoalbuminemia and refractory diarrhea. Upper gastrointestinal endoscopy revealed a diagnosis of protein-losing enteropathy caused by intestinal lymphangiectasia, and treatment with intravenous antimycobacterial drugs did not resolve his intestinal lymphangiectasia. The patient inevitably died of sepsis.

Clinical remission is difficult to achieve in patients with AIDS and protein-losing enteropathy caused by disseminated M. avium complex infection due to limited options of parenteral antiretroviral drugs. This report highlights the importance of identifying alternative treatments (such as an injectable formulation) for patients who do not respond to antiretroviral therapy due to protein-losing enteropathy with disseminated M. avium complex infection.

• Acquired immunodeficiency syndrome
• Antiretroviral therapy
• Disseminated Mycobacterium avium complex infection
• Protein-losing enteropathy

Intestinal lymphangiectasia is a group of rare diseases characterized by dilation of lymphatic channels. Its pathophysiology comprises obstruction of small bowel lymphatic drainage with secondary dilation of mucosal, submucosal, or subserous lymphatic vessels, distorting villous architecture and causing loss of lymph into the intestinal lumen, leading to malabsorption. The affected lymphatic vessels are primarily located in the small intestine, which is affected to a varying extent. Its etiology is still unknown. The following report presents a rare case of intestinal lymphangiectasia in an adult patient.

• case report
• lymphangiectasia
• lymphangiectasia intestinal
• lymphatic vessels

Primary intestinal lymphangiectasia (PIL) is a rare protein-losing gastroenteropathy of unknown etiology, characterized by impaired lymphatic vessels drainage. The pathological changes in PIL result in usually localized or diffuse dilatation of intestinal lacteals, leading to leakage of lymphatic fluid rich of proteins, lymphocytes, and immunoglobulins into the intestinal lumen. PIL may be asymptomatic or mildly symptomatic in moderate forms of the disease. In some patients, though, the outcome may be poor or even life-threatening. This case report demonstrates the severity of protein malnutrition, in some cases, and the extent of GI tract affected, requiring to start PN early and the need for its continuation as home parenteral nutrition (HPN).

We present a case of 39-year-old male with Factor V Leiden deficiency, who presented initially with symptoms of malnutrition and anasarca. The diagnosis was confirmed by histopathological findings pathognomonic for PIL from biopsies of the stomach, small intestine and colon.

The patient was started on low fat, high protein parenteral nutrition from the beginning of the treatment and required a long-term HPN for 3 years, because trials of tapering off and discontinuation of PN led to worsening of the biochemical results and recurrence of symptoms. Patient gradually improved and stabilized with persistent nutritional support.

The presented case report shows the magnitude of nutritional support (HPN) needed for severe PIL patients. HPN offers PIL patients with poor outcome and life-threatening complications a chance to improve and lead a normal life.

•

Primary intestinal lymphangiectasia is a rare protein-losing gastroenteropathy characterized by impaired lymphatic drainage.

• Case report
• Enteral nutrition
• Parenteral nutrition
• Primary intestinal lymphangiectasia
• Protein-losing gastroenteropathy
• Waldmann's disease

• Case report
• Hemihyperplasia
• Intestinal lymphangiectasis
• Lymphedema
• Primary intestinal lymphangiectasia
• Saudi Arabia

• Child, Preschool
• Extremities
• Humans
• Hyperplasia
• Infant
• Lymphangiectasis, Intestinal/complications
• Lymphangiectasis, Intestinal/diagnosis
• Lymphedema/diagnosis
• Lymphedema/etiology
• Male
• Protein-Losing Enteropathies/diagnosis
• Protein-Losing Enteropathies/etiology

• drugs: gastrointestinal system
• gastroenterology
• malabsorption

• long term
• primary intestinal lymphangiectasia
• total colonoscopy