Telangiectasia hemorrágica hereditaria Enfermedad de Osler Weber Rendu

  1. María Paula Vargas Castro
Revista:
Medicina legal de Costa Rica

ISSN: 2215-5287,  1409-0015

Ano de publicación: 2016

Volume: 33

Número: 1

Páxinas: 254-261

Tipo: Artigo

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Outras publicacións en: Medicina legal de Costa Rica

Resumo

Abstract: Hereditary hemorrhagic telangiectasia (HHT), also known by the eponym Osler-Weber-Rendu syndrome is an autosomal dominant familial disorder characterized by mucocutaneous telangiectasia, epistaxis, recurrent GI bleeding and by the development of arteriovenous malformations (AVM) in organs such as brain, lungs, and liver. Its prevalence is currently estimated at one in 5,000 to 8,000. This multisystemic vascular alteration disease has two different presentations, HHT1 and HHT2, the former is associated with mutations on the endoglin gen (ENG) localized in the 9th chromosome and the latter is associated with mutations in the activin receptor-like kinase 1 (ALK1) gen, localized in the 12th chromosome, both genes have an important role on the properties of endothelial cells during angiogenesis. Telangiectasias in nasal and gastrointestinal mucosa may lead to recurrent or chronic bleeding and iron deficiency anemia. Larger AVMs occur in lungs, liver, brain, and spine. It’s of utmost importance the presymptomatic screening and treatment due to the potentially fatal complications if this disorder, however, due to the rarity of this condition, its frequently underdiagnosed leading to a poor prognosis. This article provides an overview of the clinical features of HHT, discusses the screening and diagnostic strategies, and presents the actual treatment options and the international recommended surveillance.

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