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

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 decr...

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Bibliographic Details
Published in:GE Portuguese journal of gastroenterology 2023-10, Vol.30 (5), p.327-335
Main Authors: Abreu, Nélia, Pereira, Vítor Magno, Pestana, Madalena, Jasmins, Luís
Format: Article
Language:English
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
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Summary: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.
ISSN:2341-4545
2387-1954
DOI:10.1159/000528809