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Alpha-1-antitrypsin deficiency

D H Perlmutter1

  • 1Department of Pediatrics, Washington University School of Medicine, Missouri 63110, USA.

Seminars in Liver Disease
|October 17, 1998
PubMed
Summary
This summary is machine-generated.

Alpha 1-antitrypsin deficiency (PIZZ) is a common genetic disorder causing liver disease in children and adults, and pulmonary emphysema. Liver disease in PIZZ individuals may stem from toxic mutant alpha 1-antitrypsin Z accumulation in liver cells.

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Area of Science:

  • Genetics
  • Hepatology
  • Pulmonology

Background:

  • Alpha 1-antitrypsin (AAT) deficiency (PIZZ) is the most frequent genetic cause of pediatric liver disease, affecting 1 in 1600-2000 births.
  • It is also linked to adult chronic liver disease, hepatocellular carcinoma, and pulmonary emphysema.
  • Liver disease pathogenesis involves toxic mutant AATZ accumulation in the endoplasmic reticulum, distinct from emphysema's proteolytic mechanism.

Purpose of the Study:

  • To summarize the understanding of alpha 1-antitrypsin deficiency-associated liver disease.
  • To highlight the genetic basis and clinical manifestations of PIZZ.
  • To discuss current diagnostic and therapeutic approaches.

Main Methods:

  • Review of existing literature on alpha 1-antitrypsin deficiency.

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  • Analysis of screening data regarding PIZZ prevalence and clinical outcomes.
  • Discussion of diagnostic techniques like isoelectric focusing.

    • Main Results:

    • Only 10-15% of PIZZ individuals develop clinically significant liver disease by age 20.
    • A subset of PIZZ individuals may be predisposed due to inefficient endoplasmic reticulum degradation of mutant AATZ.
    • Diagnosis relies on identifying altered AATZ migration patterns.

    Conclusions:

    • Alpha 1-antitrypsin deficiency is a significant genetic disorder with diverse clinical outcomes.
    • Liver disease is attributed to intracellular accumulation of mutant AATZ.
    • Management is primarily supportive, with liver or lung transplantation for severe cases.