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.

Hereditary hemorrhagic telangiectasia associated with inherited thrombophilia

“…The first appearance is usually between forty and fifty years of life. The causes of bleeding are mucosal telangiectasias, angiodysplasias, or arteriovenous malformations [15][16][17][18] .…”

Rendu-Osler-Weber disease: a gastroenterologist’s perspective

“…Ha et al describe a case of HHT-2 with multiple gastric angiodysplastic lesions requiring admission for melena, and stroke due to intracranial hemorrhage, who was treated with conservative treatment (Proton Pump Inhibitors). The patient was hospitalized on a further occasion at which point genetic testing for HHT was performed with the detection of a mutation in the ALK1 gene [6]. Proctor et al performed enteroscopy in 27 randomly selected HHT patients, and determined that the presence and number of gastric and duodenal telangiectasia correlated with the presence and number of jejunal lesions [7].…”

Recurrent Gastrointestinal Hemorrhage in Treatment with Dasatinib in a Patient Showing SMAD4 Mutation with Acute Lymphoblastic Leukemia Philadelphia Positive and Juvenile Polyposis Hereditary Hemorrhagic Telangiectasia Syndrome

“…10 Therefore, patients with JP linked to SMAD4 mutations, which has a penetrance of 100%, should be screened for vascular lesions, especially those in visceral organs, to prevent serious medical consequences associated to HHT, that instead has variable onset and penetrance. 1,12,13 …”