Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin (AAT) deficiency is an uncommon disease primarily affecting the lungs and liver. AAT deficiency is due to mutations in the SERPINA1 gene. The most common manifestation is emphysema, which becomes evident by the third to fourth decade. Liver disease is a less common and may affect children and adults. AAT deficiency should be suspected in any person who presents with unexplained liver or respiratory symptoms. The gold standard for diagnosis is AAT phenotype determination (e.g. MM, ZZ). Apart from liver transplantation, specific liver-related treatment is not available but enzyme replacement therapy is available for those with lung disease.