title: Liver test results do not identify liver disease in adults with α(1)-antitrypsin deficiency.
abstract: OBJECTIVE
  Liver disease is a significant cause of death among adults with α(1)-antitrypsin (A-AT) deficiency. Age and male sex are reported risk factors for liver disease. In the absence of adequate risk stratification, current recommendations are to intermittently test A-AT-deficient adults for liver function. We evaluated this recommendation in a large group of adults with A-AT deficiency to determine the prevalence of increased levels of alanine aminotransferase (ALT) and identify risk factors for liver disease.
  
  
  METHODS
  We used the Alpha-1 Foundation DNA and Tissue Bank to identify a cross section of A-AT-deficient adults (n = 647) with and without liver disease; individuals without A-AT deficiency were used as controls (n = 152). Results from ALT tests were compared between groups.
  
  
  RESULTS
  The prevalence of liver disease among individuals with A-AT deficiency was 7.9%; an increased level of ALT was observed in 7.8% of A-AT-deficient individuals, which did not differ significantly from controls. Mean levels of ALT fell within normal range for all groups. An increased level of ALT identified patients with liver disease with 11.9% sensitivity. The level of only γ-glutamyl transpeptidase was significantly higher in the A-AT-deficient group than in controls (43 vs 30 IU/mL; P < .003). A childhood history of liver disease and male sex were risk factors for adult liver disease in the multivariate analysis.
  
  
  CONCLUSIONS
  An increased level of ALT does not identify adults with A-AT deficiency who have liver disease. Male sex and liver disease during childhood might help identify those at risk.
authors: Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, University of Florida, Gainesville, Florida 32610-0214, USA. virginia.clark@medicine.ufl.edu
authors: Virginia C
authors: VC
authors: Clark
authors: Renumathy
authors: R
authors: Dhanasekaran
authors: Mark
authors: M
authors: Brantly
authors: Farshid
authors: F
authors: Rouhani
authors: Pamela
authors: P
authors: Schreck
authors: David R
authors: DR
authors: Nelson
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000410:Alanine Transaminase / Q000097:blood*; D019411:Clinical Laboratory Techniques / Q000379:methods*; D003955:Diagnostic Tests, Routine / Q000379:methods*; D005260:Female; D006801:Humans; D008103:Liver Cirrhosis / Q000175:diagnosis* / Q000209:etiology*; D008297:Male; D008875:Middle Aged; D012680:Sensitivity and Specificity; D055815:Young Adult; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications*
chemical_list: D000410:Alanine Transaminase