Gastric angiodysplasia in a hereditary hemorrhagic telangiectasia type 2 patient
Gastric angiodysplasia in a hereditary hemorrhagic telangiectasia type 2 patient作者机构：Department of GastroenterologyGachon University Gil Medical CenterIncheon 402-751South Korea World Class University programLee Gil Ya Cancer and Diabetes InstituteGachon University of Medicine and ScienceIncheon 402-751South Korea Lee Gil Ya Cancer and Diabetes InstituteGachon University of Medicine and ScienceIncheon 402-751South Korea
出 版 物：《World Journal of Gastroenterology》 (世界胃肠病学杂志（英文版）)
年 卷 期：2012年第18卷第15期
页 面：1840-1844页
核心收录：
基 金：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 in part by a grant from the World Class University(WCU by Korean Ministry of Education,Science and Technology)(to Oh SP)
主 题：毛细血管扩张 发育不良 出血性 遗传性 胃癌 动静脉畸形 基因家族 Smad4
摘 要：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 themost 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-βfamily 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.199CT;p.Arg67Trp)in the proband and his eldest son presenting epistaxis.
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