Liver disease in adults with α1-antitrypsin deficiency.

ABSTRACT:

Background

The natural history of adult liver disease due to α1-antitrypsin deficiency (A1AD) remains poorly understood.

Objective

We investigated whether heterozygosity for the Z-allele predisposes for the development of clinically significant portal hypertension (CSPH). Moreover, we aimed to non-invasively assess the prevalence of liver fibrosis and hepatic steatosis in adults with A1AD treated by pulmonologists.

Methods

SERPINA1 rs28929474 (Z-allele) was genotyped in 315 patients with CSPH (hepatic venous pressure gradient ≥10 mmHg; cases) and 248 liver donors (controls). In addition, 31 adults with A1AD (Pi*ZZ/Pi*SZ) and 11 first-degree relatives (Pi*MZ/Pi*MS) underwent liver stiffness and controlled attenuation parameter (CAP) measurement.

Results

Heterozy

SUBMITTER: Mandorfer M 

PROVIDER: S-EPMC6068794 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature