title: Evaluation of previously nonscreened hereditary hemorrhagic telangiectasia patients shows frequent liver involvement and early cardiac consequences.
abstract: Hereditary hemorrhagic telangiectasia (HHT) is a genetic disease characterized by cutaneous, mucosal, and sometimes visceral arteriovenous malformations. Severe hepatic manifestations have been characterized in a subgroup of patients, but few data are available in previously nonscreened patients. We prospectively evaluated liver involvement and its cardiac consequences in such patients. Between 2000 and 2005, we prospectively evaluated the clinical, biological, and hepatic Doppler sonography (DS) characteristics of 102 consecutive HHT patients (mean age, 52.5 years; range, 19-88; 80.4%) with an identified genetic mutation. Patients were segregated into three different severity groups according to DS values. Factors predictive of an abnormal DS, according to predetermined criteria, and of a high cardiac index were identified by logistic and linear regression analysis, respectively. Abnormal liver biology and clinical signs of hepatic involvement were present in 35.3% and 27.5% of cases, respectively. Abnormal DS (defined as at least enlargement of the main hepatic artery) was observed in 56 (54.9%) cases, and direct or indirect signs of significant fistulas were present in 26 (25.5%) cases. Abnormal liver biology and a mutation involving the ACVRL1 gene were predictive of hepatic ultrasound (US) abnormalities. The diameter of the main hepatic artery and the presence of focal nodular hyperplasia (FNH) were predictive of a higher cardiac index.
  
  
  CONCLUSIONS
  This large prospective series of previously nonscreened HHT patients identified a subgroup at risk of liver involvement (patients with abnormal liver biology and ACVRL1 mutations) and a subgroup with a higher cardiac index: future studies will show whether such patients would benefit from systematic DS screening and long-term cardiac surveillance.
authors.affiliation: Hospices Civils de Lyon, Hepatogastroenterology Department, Centre Hospitalier Lyon Sud, Pierre Bénite, France.
authors.forename: Rodica
authors.initials: R
authors.lastname: Gincul
authors.forename: Gaetan
authors.initials: G
authors.lastname: Lesca
authors.forename: Bénédicte
authors.initials: B
authors.lastname: Gelas-Dore
authors.forename: Nathalie
authors.initials: N
authors.lastname: Rollin
authors.forename: Martine
authors.initials: M
authors.lastname: Barthelet
authors.forename: Sophie
authors.initials: S
authors.lastname: Dupuis-Girod
authors.forename: Franck
authors.initials: F
authors.lastname: Pilleul
authors.forename: Sophie
authors.initials: S
authors.lastname: Giraud
authors.forename: Henri
authors.initials: H
authors.lastname: Plauchu
authors.forename: Jean-Christophe
authors.initials: JC
authors.lastname: Saurin
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004252:DNA Mutational Analysis; D005260:Female; D006331:Heart Diseases / Q000453:epidemiology / Q000473:pathology*; D006801:Humans; D006965:Hyperplasia; D008099:Liver / Q000000981:diagnostic imaging / Q000473:pathology; D008107:Liver Diseases / Q000453:epidemiology / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009206:Myocardium / Q000473:pathology; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D014463:Ultrasonography