title: Gastric angiodysplasia in a hereditary hemorrhagic telangiectasia type 2 patient.
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.
authors.affiliation: Department of Gastroenterology, Gachon University Gil Medical Center, Incheon 402-751, South Korea.
authors.forename: Minsu
authors.initials: M
authors.lastname: Ha
authors.forename: Yoon Jae
authors.initials: YJ
authors.lastname: Kim
authors.forename: Kwang An
authors.initials: KA
authors.lastname: Kwon
authors.forename: Ki Baik
authors.initials: KB
authors.lastname: Hahm
authors.forename: Mi-Jung
authors.initials: MJ
authors.lastname: Kim
authors.forename: Dong Kyu
authors.initials: DK
authors.lastname: Kim
authors.forename: Young Jae
authors.initials: YJ
authors.lastname: Lee
authors.forename: S Paul
authors.initials: SP
authors.lastname: Oh
mesh_terms: D030301:Activin Receptors, Type II / Q000235:genetics; D016888:Angiodysplasia / Q000209:etiology*; D006471:Gastrointestinal Hemorrhage / Q000209:etiology; D006801:Humans; D008297:Male; D008875:Middle Aged; D013272:Stomach Diseases / Q000209:etiology*; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications*
chemical_list: C425364:ACVRL1 protein, human; D030301:Activin Receptors, Type II