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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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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creator Abreu, Nélia
Pereira, Vítor Magno
Pestana, Madalena
Jasmins, Luís
description 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.
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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
title Future Perspectives in the Diagnosis and Treatment of Liver Disease Associated with Alpha-1 Antitrypsin Deficiency
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