Hereditary hemorrhagic telangiectasia

被引：10

作者：

del Molino, AP

Zarrabeitia, R

Fernández, A

机构：

[1] Hosp Sierrallana, Med Interna Serv, Unidad Telangiectasia Hemorrag Hereditaria, HHT, Torrelavega 39300, Cantabria, Spain

[2] CSIC, Ctr Invest Biol, Madrid, Spain

来源：

MEDICINA CLINICA | 2005年 / 124卷 / 15期

关键词：

hereditary hemorrhagic telangiectasia; arteriovenous malformations;

D O I：

10.1157/13074142

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Hereditary Hemorrhagic Telangiectasia (HHT) or Rendu-Osler-Weber disease is a genetic disorder with a dominant autosomic transmission. Its prevelence is estimated in one in 5-8,000 individuals. Two different mutations have been described involving endoglin and ALK-1 genes, resulting in HHT type 1 and 2 respectively. It is characterized by the ocurrence of spontaneus and recurrent episodes of epistaxis, telangiectasias and the presence of visceral arteriovenous malformations (mainly affecting lungs, liver, brain and digestive tract) which are responsible for the clinical manifestations and constitute a basic point in the diagnostic criteria of Curacao. The aim of this article is to review the pathogenesis, clinical aspects, screening procedures to disclose the visceral involvement and the therapeutic options of this rare disease.

引用

页码：583 / 587

页数：5

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