Gastric angiodysplasia in a hereditary hemorrhagic telangiectasia type 2 patient.

World Journal of Gastroenterology : WJG
Minsu HaS Paul Oh

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...Continue Reading

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Citations

Jul 3, 2015·QJM : Monthly Journal of the Association of Physicians·P-L LayC-H Hsu
Dec 3, 2014·European Journal of Medical Genetics·Alicia SemakaMartine J van Belzen
Aug 11, 2017·Circulation Journal : Official Journal of the Japanese Circulation Society·Tomohisa NakamuraSatoshi Yasuda
Jun 9, 2019·Orphanet Journal of Rare Diseases·Annalisa TortoraAntonio Gasbarrini
May 1, 2021·Journal of Clinical Medicine·Tamás MajorZsuzsanna Bereczky
Mar 8, 2021·Clinical and Experimental Otorhinolaryngology·Bo-Gyeong KimSeon-Tae Kim

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