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Dig Dis Sci. 2015 Jun;60(6):1589-94. doi: 10.1007/s10620-014-3490-y. Epub 2014 Dec 23.

Low yield and utilization of confirmatory testing in a cohort of patients with liver disease assessed for alpha-1 antitrypsin deficiency.

Author information

1
Division of Gastroenterology, Beth Israel Deaconess Medical Center, Deaconess 309, 330 Brookline Avenue, Boston, MA, 02215, USA, etapper@bidmc.harvard.edu.

Abstract

BACKGROUND:

Alpha-1 antitrypsin (AAT) deficiency is often evaluated in patients with liver disease of unknown etiology.

AIMS:

We aimed to describe the practice and yield of AAT testing at a large clinical laboratory.

METHODS:

This is the retrospective cohort study of all patients with AAT measurements at one major clinical laboratory between 2003 and 2012.

RESULTS:

AAT was measured in 4,985 patients by more than 339 physicians. Eight (0.16 %) patients were found to have AAT deficiency disease. Low AAT levels were associated with two clinical factors. Aspartate aminotransferase (>40 IU/L) was inversely related, odds ratio (OR) 0.53, 95 % CI (0.32-0.88), while comorbid pulmonary disease was positively correlated, OR 4.00, 95 % CI (1.37-9.30). Non-directed testing was common. More than 90 % of patients with ALT > 40 were simultaneously assessed for AAT deficiency, hepatitis B or C, hemochromatosis, and autoimmune hepatitis. Rates of phenotype utilization were low for patients with low AAT (23, 31.5 %). Phenotype utilization was inversely related to the practice of simultaneous testing for simultaneous autoimmune hepatitis [OR 0.34 (95 % CI 0.13-0.88)], hepatitis B [OR 0.32 (95 % CI 0.11-0.89)], hepatitis C [OR 0.36 (95 % CI 0.13-1.00)], and Wilson disease evaluation [OR 0.35 (95 % CI 0.14-0.92)].

CONCLUSION:

The yield of AAT testing for patients with elevated liver enzymes is low. Utilization of phenotype testing is low and related to non-directed liver testing patterns. These data suggest a role for guidelines and laboratory protocols to encourage directed testing and phenotype utilization.

PMID:
25532504
DOI:
10.1007/s10620-014-3490-y
[Indexed for MEDLINE]

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