[Hereditary hemorrhagic telangiectasia].
Hereditary Hemorrhagic Telangiectasia (HHT) or Rendu-Osler-Weber disease is a genetic disorder with a dominant autosomic transmission. Its prevalence 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 occurrence of spontaneous 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 Curaçao. 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.
Pérez del Molino
Alfonso
A
Servicio de Medicina Interna, Hospital Sierrallana, Torrelavega, Cantabria, Spain. ssetienb@meditex.es
Zarrabeitia
Roberto
R
Fernández
Africa
A
D030201:Activin Receptors, Type I / Q000235:genetics; D030301:Activin Receptors, Type II; D000328:Adult; D015703:Antigens, CD; D000071063:Endoglin; D005260:Female; D006801:Humans; D002538:Intracranial Arteriovenous Malformations / Q000150:complications; D008297:Male; D008875:Middle Aged; D017354:Point Mutation / Q000235:genetics; D011956:Receptors, Cell Surface; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications / Q000235:genetics*; D019010:Vascular Cell Adhesion Molecule-1 / Q000235:genetics
D015703:Antigens, CD; C064206:ENG protein, human; D000071063:Endoglin; D011956:Receptors, Cell Surface; D019010:Vascular Cell Adhesion Molecule-1; C425364:ACVRL1 protein, human; D030201:Activin Receptors, Type I; D030301:Activin Receptors, Type II