Amplification of genetic and metabolic factors in alpha-1 antitrypsin deficiency

A study links obesity and diabetes to worse liver outcomes in adults with Pi*ZZ alpha-1 antitrypsin deficiency, highlighting the combined impact of genetic and metabolic risk factors.

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hepatology_2026

 

This study was conducted to evaluate the impact of obesity and diabetes mellitus on individuals with and without alpha-1 antitrypsin deficiency. The analysis included Pi*ZZ adults,  Pi*MZ and non-AATD individuals. Among Pi*ZZ participants, diabetes and obesity were associated with higher transaminases, more frequent surrogates of advanced liver fibrosis, and an increased risk of hepatic endpoints during follow-up. Overweight was associated with a decreased risk of pulmonary endpoints. These data demonstrate the interaction between genetic and metabolic risk factors in AATD and provide evidence for patient management.

The full publication is available here.