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

Autor:	Nélia Abreu, Vítor Magno Pereira, Madalena Pestana, Luís Jasmins
Rok vydání:	2023
Předmět:	Gastroenterology General Earth and Planetary Sciences General Environmental Science
Zdroj:	GE - Portuguese Journal of Gastroenterology. :1-9
ISSN:	2387-1954 2341-4545
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::20f06c53956d14faf7520c4b2d6534fe https://doi.org/10.1159/000528809 Zobrazit plný text záznamu