| Literature DB >> 30949422 |
Hasnan M Ijaz1, Muhammad Uzair Lodhi2, Waliul Chowdhury1, Intekhab Askari Syed3, Chirag Patel4, Bryce A McDaniel4, Mustafa Rahim5.
Abstract
Hereditary hemorrhagic telangiectasia (HHT) is described as a vascular defect, causing recurrent visceral and mucocutaneous bleeding. It is an autosomal dominant disease and has variable expressivity. The phenotypic presentation is dependent on the type of gene defect. Recurrent epistaxis is the most common symptom, along with gastrointestinal (GI), pulmonary, and arteriovenous malformations (AVM). The Curacao criteria are used to make the diagnosis of HHT. Genetic sequence testing for endoglin (ENG) or activin receptor-like kinase type 1 (ALK1) can be performed to confirm the diagnosis. However, genetic sequencing is not necessary. Along with recurrent bleeding, patients with HHT also have an increased risk of thromboembolic events. Supportive treatment prevents acute symptoms, but the therapeutic options of HHT are based on multiple factors. We describe the case of a 69-year-old male who presented with GI bleeding and a history of HHT and recurrent deep vein thrombosis (DVT). We discuss the diagnostic guidelines and treatment options for patients with HHT. Furthermore, we also discuss the challenge in treating patients with co-existing GI bleeding and DVT, as in our case.Entities:
Keywords: deep vein thrombosis; gastrointestinal hemorrhage; hereditary hemorrhagic telangiectasia; osler-weber-rendu disease
Year: 2018 PMID: 30949422 PMCID: PMC6436667 DOI: 10.7759/cureus.3305
Source DB: PubMed Journal: Cureus ISSN: 2168-8184