Alpha1-Antitrypsin Deficiency: Transition of Care for the Child With AAT Deficiency into Adulthood

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Henry C Lin1, Nagraj Kasi2, J Antonio Quiros2

  • 1Division of Pediatric Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia, United States.

Current Pediatric Reviews
|November 14, 2018
PubMed

Insights

Alpha1-antitrypsin (AAT) deficiency can cause liver disease in children. Early diagnosis and monitoring by pediatricians are crucial for managing AAT deficiency liver complications and potential lung issues.

Area of Science:

  • Hepatology
  • Genetics
  • Pediatrics

Background:

  • Alpha1-antitrypsin (AAT) deficiency is an underdiagnosed genetic disorder affecting 1 in 1500 individuals.
  • Liver disease is a potential, insidious manifestation of AAT deficiency in children.
  • Existing guidelines primarily address pulmonary AAT deficiency, lacking specific pediatric liver management recommendations.

Purpose of the Study:

  • To systematically review the literature on managing AAT deficiency-associated liver disease in both adults and children.

Main Methods:

  • A systematic literature search was conducted using PubMed with terms like "alpha1-antitrypsin deficiency" and "liver disease".
  • Landmark references were included, and recommendations for pediatric management were developed using the Strength of Recommendation Taxonomy scale.

Main Results:

  • Accumulation of mutated AAT protein in hepatocytes causes liver complications.
  • Approximately 10% of children with AAT deficiency develop liver disease, presenting variably with symptoms like cholestasis and hepatomegaly.
  • Liver function tests are recommended for assessment; liver transplantation is the only cure, and lifelong monitoring for pulmonary involvement is advised.

Conclusions:

  • Pediatricians should increase vigilance for AAT deficiency testing.
  • Diagnosis necessitates prompt liver involvement assessment.
  • Children with AAT deficiency-related liver disease require specialist referral and lifelong monitoring for both liver and lung conditions.
Abstract

Keywords:
Alpha1-antitrypsin deficiencydiagnosisemphysemapediatric liver diseasepulmonary function testssystematic review.

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