α1-antitrypsin deficiency (AATD) is a genetic disorder caused by mutations in the SERPINA1 gene on chromosome 14, leading to low levels or dysfunctional α1-antitrypsin (AAT). AAT is a serine protease inhibitor primarily produced in the liver. Its main role is to inhibit neutrophil elastase, a protease that degrades elastin and other components of the extracellular matrix.
autosomal co-dominant transmission, meaning that affected individuals have inherited an abnormal ΑΑΤ gene from each parent.
A deficiency or dysfunction of AAT results in uncontrolled protease activity, primarily affecting the lungs (causing emphysema) and liver (causing hepatocellular damage → Hepatocellular carcinoma).
Surveillance guidelines for the liver not established. LFTs + fibroscan seems reasonable - refer to hepatolgist