Future Perspectives in the Diagnosis and Treatment of Liver Disease Associated with Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin deficiency (AATD) is one of the most common genetic diseases and caused by mutations in SERPINA1 gene. The homozygous Pi*Z variant responsible for majority classic severe form alpha-1 deficiency, which characterized markedly decreased levels serum (AAT) with a strong predisposition to lung liver disease. diagnosis early treatment AATD-associated disease are challenges clinical practice. In this review, authors aim summarize current evidence non-invasive methods assessment fibrosis, as well elucidate main therapeutic strategies under investigation that may emerge near future.