Nélia Abreu, Vítor Magno Pereira, Madalena Pestana, Luís Jasmins
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引用次数: 0
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.
期刊介绍：
The ''GE Portuguese Journal of Gastroenterology'' (formerly Jornal Português de Gastrenterologia), founded in 1994, is the official publication of Sociedade Portuguesa de Gastrenterologia (Portuguese Society of Gastroenterology), Sociedade Portuguesa de Endoscopia Digestiva (Portuguese Society of Digestive Endoscopy) and Associação Portuguesa para o Estudo do Fígado (Portuguese Association for the Study of the Liver). The journal publishes clinical and basic research articles on Gastroenterology, Digestive Endoscopy, Hepatology and related topics. Review articles, clinical case studies, images, letters to the editor and other articles such as recommendations or papers on gastroenterology clinical practice are also considered. Only articles written in English are accepted.
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