title: [Familial study of patients with hereditary hemorrhagic telangiectasia].
abstract: Rendu-Osler-Weber's disease or Hereditary Hemorrhagic Telangiectasia (HTT) is an autosomal dominant hereditary clinical entity characterized by the presence of telangiectasias on skin, mucous membranes and internal organs. The incidence of hepatic, pulmonary or cerebral complications justifies an early diagnostic. A familiar study of patients previously diagnosed of HTT in our hospital was made, establishing a protocol for the identification of asymptomatic or pauci-symptomatic cases. Fourteen patients were studied: 6 with a previous diagnostic, and 8 familiar contacts. Penetrance was of 85%. Epistaxis (80%) and telangiectasias on skin were the most frequent clinical findings. The visceral lesions found were gastrointestinal (28%), hepatic (15%), urological (15%) and pulmonary (7%). All patients were included in an hepatitis B virus vaccination program. It was also made a morphological study with Werhoeff's staining of the elastic layer, that allowed to distinguish both arterial and venous alterations.
authors.affiliation: Servicio de Medicina Interna, Hospital de Cabueñes, Gijón.
authors.forename: J
authors.initials: J
authors.lastname: Noval Menéndez
authors.forename: F
authors.initials: F
authors.lastname: Nuño Mateo
authors.forename: M J
authors.initials: MJ
authors.lastname: Anitúa Roldán
authors.forename: A
authors.initials: A
authors.lastname: López Muñiz
authors.forename: E
authors.initials: E
authors.lastname: Fuente Martín
authors.forename: C
authors.initials: C
authors.lastname: Gallo Alvaro
mesh_terms: D000328:Adult; D006801:Humans; D008875:Middle Aged; D019683:Penetrance; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications / Q000235:genetics* / Q000473:pathology
vernacular_title: Estudio familiar de pacientes con telangiectasia hemorrágica hereditaria.