Original research: Amplification of genetic and metabolic factors in alpha-1 antitrypsin deficiency - PubMed
14 hours ago
- #AATD
- #metabolic risk
- #liver fibrosis
- Study evaluates the impact of obesity and diabetes on individuals with alpha-1 antitrypsin deficiency (AATD).
- Cohort 1 included 1678 Pi*ZZ adults with systematic liver assessment; 983 had longitudinal follow-up.
- Data compared to 16,768 Pi*MZ and 415,208 non-AATD individuals from the UK Biobank (Cohort 2).
- Diabetes was present in 3% of Pi*ZZ adults, overweight in 52%, and obesity in 32%.
- Pi*ZZ individuals with diabetes showed higher transaminases and advanced liver fibrosis markers.
- Obese Pi*ZZ individuals had a 4.1 times higher risk of elevated APRI (liver fibrosis marker) compared to lean Pi*ZZ.
- During follow-up, hepatic and pulmonary endpoints were observed in 54 and 64 Pi*ZZ participants, respectively.
- Diabetes/obesity in Pi*ZZ increased hepatic endpoint risk, while overweight decreased pulmonary endpoint risk.
- Study highlights interaction between genetic (AATD) and metabolic (obesity/diabetes) risk factors.