Gastric angiodysplasia in a hereditary hemorrhagic telangiectasia type 2 patient

作     者：Minsu Ha Yoon Jae Kim Kwang An Kwon Ki Baik Hahm Mi-Jung Kim Dong Kyu Kim Young Jae Lee S Paul Oh 

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：

学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学] 

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：Hereditary hemorrhagic telangiectasia Angiodysplasia Intracranial hemorrhage Epistaxis Activin receptor-like kinase 1 

摘      要：Hereditary hemorrhagic telangiectasia(HHT)is a rare autosomal-dominantly inherited disease that occurs in approximately one in 5000 to 8000 *** 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)*** epistaxis is themost common presenting symptom,AVMs affecting the lungs,brain and GI tract provoke a more serious *** mutations in endoglin,activin receptor-like kinase 1(ACVRL1;ALK1),and SMAD4,the genes involved in the transforming growth factor-βfamily signaling cascade,cause *** 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 *** revealed multiple angiodysplasia throughout the *** argon plasma coagulation was performed to control bleeding from a gastric *** patient has been admitted several times with episodes of hemoptysis and *** year ago,the patient was hospitalized due to right-sided weakness,which was caused by left basal ganglia hemorrhage as the part of HHT *** 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;***67Trp)in the proband and his eldest son presenting epistaxis.