title: Identifying the presence of clinically significant hepatic involvement in hereditary haemorrhagic telangiectasia using a simple clinical scoring index.
abstract: OBJECTIVE
  Though hepatic involvement is common in patients with hereditary haemorrhagic telangiectasia (HHT), symptomatic liver disease is rare but potentially fatal without liver transplantation. Factors associated with clinically significant liver disease in patients with HHT are unknown.
  
  
  METHODS
  In this prospective cohort study, we included consecutive patients from 2001 to 2011 with definite HHT, who underwent systematic protocol screening including contrast-enhanced hepatic CT and/or abdominal ultrasound. Using a multivariable logistic regression model, we developed a simple clinical scoring index to identify the presence of symptomatic liver disease (cardiac failure, portal hypertension, or biliary disease) or 'at-risk' liver disease (asymptomatic patients, with hepatic bruit, abnormal liver biochemistry, or elevated cardiac index).
  
  
  RESULTS
  Of 316 patients with definite HHT, 171 patients (54.1%; age 53.4 ± 15.2 y, 101 females) had hepatic involvement on imaging. Twenty-nine patients had symptomatic liver disease (22 patients with high-output heart failure); 45 patients were 'at-risk' for liver disease. Using multivariable logistic regression analysis, we derived a score using age, gender, hemoglobin and alkaline phosphatase at presentation which could accurately distinguish patients with clinically significant liver involvement from patients with no or incidental liver lesions (c-statistic=0.80). A score <3 indicated low risk (<5%) and score >6 indicated high risk (>80%) of harboring clinically significant liver disease in HHT.
  
  
  CONCLUSIONS
  A simple scoring system can distinguish patients at low, moderate, and high risk of harboring clinically significant liver disease. With validation, this score may be used to identify patients for individualized screening and enrollment in clinical trials.
authors.affiliation: Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN, United States.
authors.forename: Siddharth
authors.initials: S
authors.lastname: Singh
authors.affiliation: Division of Pulmonary and Critical Care Medicine, Mayo Clinic, Rochester, MN, United States.
authors.forename: Karen L
authors.initials: KL
authors.lastname: Swanson
authors.affiliation: Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, MN, United States.
authors.forename: Matthew A
authors.initials: MA
authors.lastname: Hathcock
authors.affiliation: Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, MN, United States.
authors.forename: Walter K
authors.initials: WK
authors.lastname: Kremers
authors.affiliation: Department of Otolaryngology, Mayo Clinic, Rochester, MN, United States.
authors.forename: John F
authors.initials: JF
authors.lastname: Pallanch
authors.affiliation: Division of Pulmonary and Critical Care Medicine, Mayo Clinic, Rochester, MN, United States.
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Krowka
authors.affiliation: Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN, United States. Electronic address: kamath.patrick@mayo.edu.
authors.forename: Patrick S
authors.initials: PS
authors.lastname: Kamath
mesh_terms: D000328:Adult; D000368:Aged; D000469:Alkaline Phosphatase / Q000097:blood; D001165:Arteriovenous Malformations / Q000209:etiology / Q000473:pathology; D015331:Cohort Studies; D005260:Female; D006454:Hemoglobins / Q000378:metabolism; D006801:Humans; D008099:Liver / Q000098:blood supply / Q000473:pathology; D008107:Liver Diseases / Q000175:diagnosis / Q000209:etiology* / Q000473:pathology*; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D011446:Prospective Studies; D012307:Risk Factors; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications* / Q000235:genetics / Q000473:pathology
chemical_list: D006454:Hemoglobins; D000469:Alkaline Phosphatase
keywords: Hepatic vascular malformations; Hereditary haemorrhagic telangiectasia; High-output heart failure; Risk stratification; Screening