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Mouse Model of Oleic Acid-Induced Acute Respiratory Distress Syndrome
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Alpha-1-antitrypsin deficiency.

Robert Bals1

  • 1Department of Pulmonology, Hospital of the University of the Saarland, Kirrbergerstr. 1, Building 91, D-66421 Homburg/Saar, Germany. robert.bals@uks.eu

Best Practice & Research. Clinical Gastroenterology
|October 20, 2010
PubMed
Summary

Alpha-1-antitrypsin deficiency (AATD) is a rare genetic disorder causing liver and lung disease. Diagnosis involves genotype and phenotype analysis, with supportive care for liver issues, as specific treatments are unavailable.

Area of Science:

  • Genetics
  • Hepatology
  • Pulmonology

Background:

  • Alpha-1-antitrypsin deficiency (AATD) is a rare genetic disorder linked to liver and lung disease.
  • Alpha-1-antitrypsin (AAT) is a glycoprotein produced by hepatocytes; protein agglomeration in hepatocytes causes liver disease.
  • Smoke exposure is a primary risk factor for AATD-related lung disease, manifesting as early chronic obstructive pulmonary disease (COPD).

Purpose of the Study:

  • To provide a comprehensive overview of Alpha-1-antitrypsin deficiency (AATD).
  • To cover the basic biology, diagnostic methods, and therapeutic strategies for AATD.
  • To address the limited accessibility of information regarding AATD diagnosis and treatment.

Main Methods:

  • Diagnosis relies on Alpha-1-antitrypsin (AAT) genotype and phenotype analysis.

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  • AAT serum level measurement serves as an effective screening test.
  • Liver biopsy is not required for diagnosis.

    • Main Results:

    • AATD is a rare condition, affecting 1 in 5000 to 10000 individuals.
    • Liver disease in AATD results from AAT-protein agglomeration within hepatocytes.
    • Lung disease, specifically early COPD, is strongly associated with smoke exposure in AATD patients.

    Conclusions:

    • Current therapy for AAT-related liver disease is supportive, with no specific treatments available.
    • Comprehensive information on AATD diagnosis and management is crucial due to its rarity.
    • This overview aims to consolidate knowledge on AATD's biology, diagnosis, and treatment approaches.