| Literature DB >> 28836046 |
Samuel B Jackson1,2,3, Nicholas P Villano1,2,3, Jihane N Benhammou1,2,3, Michael Lewis4, Joseph R Pisegna1,2,3, David Padua5,6,7.
Abstract
Hereditary hemorrhagic telangiectasia (HHT), also called Osler-Weber-Rendu syndrome, is an autosomal dominant genetic disease that affects the vasculature of numerous organs. The prevalence of HHT is estimated to be between 1.5 and 2 persons per 10,000. While there is still much to learn about this condition, there is an increasing understanding its underlying pathophysiology, genetic basis, presentations, and management. Recognizing that the clinical manifestations of HHT can involve a number of organ systems will provide clinicians with a higher index of suspicion for the disease. This early diagnosis and genotyping can greatly reduce mortality for a patient with HHT through appropriate screening for complications. This review will focus on the gastrointestinal manifestations of HHT and how these can dictate treatment and prognosis.Entities:
Keywords: Arteriovenous malformation; Hereditary hemorrhagic telangiectasia (HHT); Juvenile polyposis syndrome; Osler–Weber–Rendu syndrome
Mesh：
Year: 2017 PMID： 28836046 PMCID： PMC5641264 DOI： 10.1007/s10620-017-4719-3
Source DB: PubMed Journal: Dig Dis Sci ISSN： 0163-2116 Impact factor: 3.199