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[Alpha 1-antitrypsin deficiency].

J-F Mornex1

  • 1Université de Lyon, université Lyon 1, INRAE, EPHE, UMR754, IVPC, Lyon, France; Centre de référence des maladies respiratoires rares, Orphalung, RESPIFIL, 69500 Bron, Bron, France; Service de pneumologie, hôpital Louis-Pradel, hospices civils de Lyon, 69500 Bron, France.

Revue Des Maladies Respiratoires
|June 17, 2022
PubMed
Summary
This summary is machine-generated.

Alpha 1-antitrypsin deficiency, linked to SERPINA1 gene variants, increases risks for emphysema and liver disease. Lifestyle factors like smoking and obesity exacerbate these risks, highlighting the need for preventative measures.

Keywords:
Alpha 1-antitrypsin deficiencyAugmentation therapyBPCOCOPDCirrhose du foieDéficit en alpha 1-antitrypsineEmphysème pulmonaireLiver cirrhosisPulmonary emphysemaTraitement substitutif

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Area of Science:

  • Genetics and Medicine
  • Pulmonology
  • Hepatology

Background:

  • Alpha 1-antitrypsin deficiency is an autosomal recessive genetic disorder.
  • It is typically caused by homozygous Z variants of the SERPINA1 gene, leading to reduced alpha 1-antitrypsin serum levels.
  • Clinical manifestations include pulmonary emphysema and liver disease.

Purpose of the Study:

  • To summarize the clinical expressions and risk factors associated with alpha 1-antitrypsin deficiency.
  • To discuss current and potential therapeutic strategies.
  • To emphasize preventative measures for individuals with the deficiency and their relatives.

Main Methods:

  • Review of clinical expressions and genetic associations.
  • Assessment of risk factors including tobacco, alcohol, and obesity.
  • Evaluation of diagnostic techniques like isoelectric focalization, molecular methods, CT scans, and transient elastography.
  • Analysis of treatment outcomes, including augmentation therapy.

Main Results:

  • Homozygous (Z) variants of the SERPINA1 gene significantly increase the risk of pulmonary emphysema and liver disease.
  • Tobacco consumption elevates emphysema risk, while alcohol consumption and obesity increase liver disease risk.
  • Augmentation therapy can slow emphysema progression in severe deficiency cases.

Conclusions:

  • Lifestyle modifications (avoiding tobacco/alcohol, weight management) are crucial for individuals with alpha 1-antitrypsin deficiency (ZZ genotype) and their relatives.
  • Targeting alpha 1-antitrypsin liver production presents a promising therapeutic avenue.