Ha M, Kim YJ, Kwon KA, Hahm KB, Kim MJ, Kim DK, Lee YJ, Oh SP. Gastric angiodysplasia in a hereditary hemorrhagic telangiectasia type 2 patient. World J Gastroenterol 2012; 18(15): 1840-1844 [PMID: 22553411 DOI: 10.3748/wjg.v18.i15.1840]
Corresponding Author of This Article
S Paul Oh, PhD, Professor, World Class University program, Lee Gil Ya Cancer and Diabetes Institute, Gachon University of Medicine and Science, 7-45 Songdo-dong, Yeonsu-Gu, Incheon 402-751, South Korea. ohp@gachon.ac.kr
Article-Type of This Article
Case Report
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World J Gastroenterol. Apr 21, 2012; 18(15): 1840-1844 Published online Apr 21, 2012. doi: 10.3748/wjg.v18.i15.1840
Gastric angiodysplasia in a hereditary hemorrhagic telangiectasia type 2 patient
Minsu Ha, Yoon Jae Kim, Kwang An Kwon, Ki Baik Hahm, Mi-Jung Kim, Dong Kyu Kim, Young Jae Lee, S Paul Oh
Minsu Ha, Yoon Jae Kim, Kwang An Kwon, Ki Baik Hahm, Dong Kyu Kim, Department of Gastroenterology, Gachon University Gil Medical Center, Incheon 402-751, South Korea
Mi-Jung Kim, S Paul Oh, World Class University program, Lee Gil Ya Cancer and Diabetes Institute, Gachon University of Medicine and Science, Incheon 402-751, South Korea
Young Jae Lee, Lee Gil Ya Cancer and Diabetes Institute, Gachon University of Medicine and Science, Incheon 402-751, South Korea
Author contributions: Ha M and Kim YJ contributed equally; Ha M and Kim YJ made substantial contributions in reviewing the case and hereditary hemorrhagic telangiectasia and compiling the laboratory data and endoscopic images, and also wrote the manuscript; Lee YJ and Kim MJ contributed to gene sequencing analysis; Oh SP supervised sequencing analysis and wrote the manuscript; Hahm KB, Kwon KA and Kim DK contributed to compiling the laboratory data and endoscopic images; all authors gave their approval for publishing this version of the manuscript.
Supported by A grant of the South Korea Healthcare technology R and D Project, Ministry for Health, Welfare and Family Affairs, South Korea, No. A080588-23; and in part by a grant from the World Class University (WCU by Korean Ministry of Education, Science and Technology) (to Oh SP)
Correspondence to: S Paul Oh, PhD, Professor, World Class University program, Lee Gil Ya Cancer and Diabetes Institute, Gachon University of Medicine and Science, 7-45 Songdo-dong, Yeonsu-Gu, Incheon 402-751, South Korea. ohp@gachon.ac.kr
Telephone: +82-32-8996063 Fax: +82-32-8996039
Received: September 8, 2011 Revised: January 18, 2012 Accepted: February 8, 2012 Published online: April 21, 2012
Abstract
Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal-dominantly inherited disease that occurs in approximately one in 5000 to 8000 people. Clinical diagnosis of HHT is made when a person presents three of the following four criteria: family history, recurrent nosebleeds, mucocutaneous telangiectasis, and arteriovenous malformations (AVM) in the brain, lung, liver and gastrointestinal (GI) tract. Although epistaxis is the most common presenting symptom, AVMs affecting the lungs, brain and GI tract provoke a more serious outcome. Heterozygous mutations in endoglin, activin receptor-like kinase 1 (ACVRL1; ALK1), and SMAD4, the genes involved in the transforming growth factor-β family signaling cascade, cause HHT. We report here the case of a 63 year-old male patient who presented melena and GI bleeding episodes, proven to be caused by bleeding from multiple gastric angiodysplasia. Esophagogastroduodenoscopy revealed multiple angiodysplasia throughout the stomach. Endoscopic argon plasma coagulation was performed to control bleeding from a gastric angiodysplasia. The patient has been admitted several times with episodes of hemoptysis and hematochezia. One year ago, the patient was hospitalized due to right-sided weakness, which was caused by left basal ganglia hemorrhage as the part of HHT presentation. In family history, the patient’s mother and elder sister had died, due to intracranial hemorrhage, and his eldest son has been suffered from recurrent epistaxis for 20 years. A genetic study revealed a mutation in exon 3 of ALK1 (c.199C > T; p.Arg67Trp) in the proband and his eldest son presenting epistaxis.
