The management and treatment of children with Fabry disease: A United States-based perspective

Robert J. Hopkin, John L. Jefferies, Dawn A. Laney, Victoria H. Lawson, Michael Mauer, Matthew R. Taylor, William R. Wilcox

Research output: Contribution to journalReview articlepeer-review

36 Scopus citations

Abstract

Fabry disease is an inherited X-linked disorder that presents during childhood in male and female patients. Young patients may initially experience pain, hypohidrosis, and gastrointestinal symptoms. Other manifestations of Fabry disease, such as renal and cardiac disease, manifest later in adolescence or adulthood. In the pediatric population, renal damage is typically subclinical and identifiable only through biopsy. Specialists from the United States with expertise in Fabry disease convened during 2013-2014 in order to develop these consensus guidelines about the management and treatment of children with Fabry disease. The presence of symptoms in boys and girls of any age is an indication to begin therapy. Early treatment before the onset of potentially irreversible vital organ pathology is ideal. Asymptomatic children with Fabry mutations should be followed closely for the development of renal, cardiac, neurological, or gastrointestinal signs, symptoms, or laboratory changes, which would warrant treatment initiation. A comprehensive care plan should be implemented by the treating physicians to guide the management of children with Fabry disease.

Original languageEnglish (US)
Pages (from-to)104-113
Number of pages10
JournalMolecular Genetics and Metabolism
Volume117
Issue number2
DOIs
StatePublished - Feb 1 2016

Keywords

  • Children
  • Enzyme replacement therapy
  • Fabry disease
  • Management
  • Treatment

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