Abstract

ABREU, Nélia; PEREIRA, Vítor Magno; PESTANA, Madalena  and  JASMINS, Luís. Future Perspectives in the Diagnosis and Treatment of Liver Disease Associated with Alpha-1 Antitrypsin Deficiency. GE Port J Gastroenterol [online]. 2023, vol.30, n.5, pp.1-9.  Epub Dec 01, 2023. ISSN 2341-4545.  https://doi.org/10.1159/000528809.

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.

Keywords : Alpha-1 antitrypsin; Liver disease; Treatment.

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