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Fabry disease in infancy and early childhood: a systematic literature review

Dawn A Laney1, Dawn S Peck2, Andrea M Atherton3

  • 1Division of Medical Genetics, Department of Human Genetics, Decatur, Georgia, USA.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|September 19, 2014
PubMed

Insights

Fabry disease symptoms, including neuropathic pain and gastrointestinal issues, can appear before age five in children. Early detection and specialist referral are crucial for managing this genetic disorder.

Area of Science:

  • Genetics
  • Pediatrics
  • Lysosomal Storage Disorders

Background:

  • Fabry disease is a progressive, X-linked genetic disorder caused by alpha-galactosidase A deficiency.
  • While symptoms in older children are documented, data for infants and early childhood are limited.

Purpose of the Study:

  • To identify the age of symptom onset for specific manifestations of Fabry disease in early childhood.
  • To delineate the early clinical presentation of Fabry disease in pediatric patients.

Main Methods:

  • Systematic retrospective analysis of PubMed-indexed publications and case reports.
  • Focused on pediatric Fabry disease patients under five years of age.

Main Results:

  • Acroparesthesias/neuropathic pain were the most frequent symptom (9 children, ages 2.0-4.0 years).
  • Gastrointestinal issues were also notable (6 children, ages 1.0-4.1 years).

Conclusions:

  • Symptoms of Fabry disease can manifest in early childhood, prior to age five.
  • Timely referral to specialists experienced in pediatric Fabry disease management is strongly indicated.
Abstract

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