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Alpha-1-Antitrypsin Deficiency: An Important Cause of Pediatric Liver Disease

Amy Feldman1, Ronald J Sokol1

  • 1University of Colorado School of Medicine Digestive Health Institute, Children's Hospital Colorado Aurora, Colorado.

Lung Health Professional Magazine
|March 29, 2016
PubMed

Insights

Alpha-1-antitrypsin deficiency is a common genetic disorder. It is the leading inherited cause of liver disease in children and a frequent reason for pediatric liver transplants.

Area of Science:

  • Genetics
  • Hepatology
  • Pediatrics

Background:

  • Alpha-1-antitrypsin deficiency (AATD) is an inherited genetic disorder affecting 1 in 1,600 to 2,000 live births, predominantly in individuals of Northern European descent.
  • Individuals with PiZZ or PiSZ genotypes are susceptible to developing liver disease.
  • While emphysema is typically diagnosed later in life, AATD-related liver disease can manifest at any age, even in early infancy.

Purpose of the Study:

  • To highlight Alpha-1-antitrypsin deficiency as a significant genetic cause of pediatric liver disease.
  • To underscore AATD's role as a primary inherited indication for liver transplantation in children.
  • To provide an overview of the prevalence and clinical implications of AATD in pediatric liver disease.

Main Methods:

  • Review of existing literature and epidemiological data on Alpha-1-antitrypsin deficiency.
  • Analysis of prevalence rates in live births and genetic risk factors (PiZZ, PiSZ).
  • Examination of the incidence of liver disease and liver transplantation in pediatric populations with AATD.

Main Results:

  • 4-10% of children with AATD develop clinically significant liver disease within their first two decades.
  • AATD is identified as the most common genetic cause of pediatric liver disease.
  • Approximately 50 pediatric liver transplants are performed annually for AATD.

Conclusions:

  • Alpha-1-antitrypsin deficiency is a critical genetic disorder with significant hepatic manifestations in children.
  • Early recognition and management of AATD are crucial for mitigating pediatric liver disease progression.
  • AATD remains a leading inherited cause for pediatric liver transplantation, necessitating ongoing research and awareness.

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