The Prevalence of Liver Disease in Patients with Alpha1-Antitrypsin Deficiency

Roughly a third of adults with the disorder have liver fibrosis without lung disease.

Alpha1-antitrypsin deficiency (AATD) is one of the most common genetic disorders associated with significant morbidity and mortality. Pulmonary disease due to AATD is relatively common. Liver disease due to AATD typically has a biphasic pattern: the first peak occurs in childhood; the second occurs around age 50, when patients with the Pi*ZZ homozygous mutation can develop liver disease. The prevalence and natural history of AATD in adults are poorly understood.

This cohort study included 554 adults with AATD carrying the Pi*ZZ mutation and 234 non-AATD adults without known liver disease. Hepatic steatosis and fibrosis were assessed noninvasively using the aspartate aminotransferase to platelet ratio index, HepaScore, and transient elastogra…

Reviewing Author

Atif Zaman, MD, MPH

Disclosures

Nothing to disclose

Atif Zaman, MD, MPH

Disclosures

Nothing to disclose

The Prevalence of Liver Disease in Patients with Alpha1-Antitrypsin Deficiency

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Reviewing Author