Literature DB >> 30949422

Co-existing Gastrointestinal Hemorrhage and Deep Vein Thrombosis in a Patient with Hereditary Hemorrhagic Telangiectasia: Management Dilemma.

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


  1 in total

1.  Surgery of hereditary hemorrhagic telangiectasia with severe refractory gastrointestinal bleeding: A case report of a rare condition.

Authors:  Dae Ro Lim; Da Bin Kim; Hee Kyung Kim; Eung Jin Shin
Journal:  Int J Surg Case Rep       Date:  2020-06-13
  1 in total

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