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Alpha1-antitrypsin deficiency: An updated review.

Jean-François Mornex1, Julie Traclet2, Olivier Guillaud3

  • 1Université de Lyon, université Lyon 1, INRAE, EPHE, UMR754, IVPC, F-69007 Lyon, France; Centre de référence des maladies pulmonaires rares, Orphalung, RESPIFIL, ERN-LUNG, F-69500 Bron, France; Hospices civils de Lyon, hôpital Louis-Pradel, service de pneumologie, F-69500 Bron, France; Inserm, hospices civils de Lyon, CIC 1407, F-69500 Bron, France.

Presse Medicale (Paris, France : 1983)
|July 30, 2023
PubMed
Summary

Alpha1-antitrypsin deficiency (AATD) is a rare genetic disorder causing lung and liver disease. Early diagnosis and augmentation therapy for eligible patients can improve outcomes for this serious condition.

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Area of Science:

  • Genetics
  • Pulmonology
  • Hepatology

Background:

  • Alpha1-antitrypsin deficiency (AATD) is a rare autosomal recessive disorder linked to the SERPINA1 gene's homozygous Z variant.
  • It manifests as severe alpha1-antitrypsin deficiency, leading to pulmonary emphysema and/or liver fibrosis.
  • Risk factors like smoking, obesity, and alcohol exacerbate AATD's clinical expression.

Purpose of the Study:

  • To summarize the clinical manifestations, diagnosis, and management of Alpha1-antitrypsin deficiency.
  • To highlight the importance of early detection in patients with COPD and chronic liver disease.
  • To discuss current and emerging therapeutic strategies for AATD.

Main Methods:

  • Diagnosis relies on serum alpha1-antitrypsin levels, biochemical phenotype determination (isoelectric focusing), or PCR detection of variants.
  • SERPINA1 gene sequencing is employed for diagnostic discrepancies.
  • A randomized clinical trial informed augmentation therapy guidelines.

Main Results:

  • Pulmonary emphysema in AATD is associated with severe deficiency and smoking.
  • Liver fibrosis risk increases with obesity and alcohol intake, posing a risk for liver cancer.
  • Augmentation therapy is recommended for specific non-smoking adults with confirmed homozygous AATD and emphysema.

Conclusions:

  • Early detection of AATD is crucial for carriers of the Z variant, especially in patients with COPD or chronic liver disease.
  • While no cure exists for AATD-related liver disease, augmentation therapy offers a treatment option for eligible emphysema patients.
  • Future therapies targeting liver alpha1-antitrypsin production may significantly alter AATD patient care.