Abstract
Alpha-1 antitrypsin deficiency (AATD) is a genetic condition that increases susceptibility to chronic lung and liver diseases. There is limited data on testing rates in patients with cirrhosis. Guidelines recommend AATD testing in cryptogenic liver disease but not in patients with an established etiology. We aimed to quantify AATD testing patterns in a national cohort of patients with cirrhosis to inform guidelines.
In this retrospective cohort study of veterans with a new diagnosis of cirrhosis between 1/1/2008 and 1/31/2020, with follow-up until 2/23/2023, we identified predictors of testing, and of severe AATD (AAT<57 mg/dl or PiSZ/ PiZZ phenotype/genotype).
Of the 126,210 patients with cirrhosis, 42,403 (33.6%) were tested, including 38,189 (30.3%) for AAT levels only, 1103 (0.8%) for genotype/phenotype only, and 3011 (2.4%) for both. Factors associated with higher AATD testing included specialist evaluation and white race, while patients with COPD, hepatitis B/C, hepatocellular carcinoma, and hepatic decompensation, were less likely to be tested. Only half of the patients with AAT levels of <57 mg/dl underwent genotype/phenotype testing. Most patients (94.7%) with severe AATD-LD also had an alternate etiology of liver disease, including MASLD (53.6%) or viral hepatitis (16.1%), and would be missed if testing only patients with cryptogenic liver disease.
AATD testing rates in veterans with cirrhosis are low, and patients at high-risk are less likely to be tested. Guidelines are needed to emphasize universal AATD testing in patients with cirrhosis regardless of the presence of other risk factors.