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

• Published in: GE Portuguese journal of gastroenterology Vol. 30; no. 5; pp. 327 - 335
• Main Authors: Abreu, Nélia, Pereira, Vítor Magno, Pestana, Madalena, Jasmins, Luís
• Format: Journal Article
• Language: English
• Published: Basel, Switzerland S. Karger AG 01-10-2023; Karger Publishers
• Subjects: alpha-1 antitrypsin; Endoplasmic reticulum; Enzymes; Genotype & phenotype; Liver cancer; Liver cirrhosis; liver disease; Liver diseases; Liver transplants; Lung diseases; Medical diagnosis; Mutation; Proteins; Review; Review Article; treatment; Portugal; Alpha-1 antitrypsin; Treatment; Liver disease
• ISSN: 2341-4545; 2387-1954
• DOI: 10.1159/000528809

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