Genetics of Fabry Disease Guidelines

Updated: Aug 23, 2018
  • Author: Robert J Desnick, MD, PhD; Chief Editor: Maria Descartes, MD  more...
  • Print

Guidelines Summary

International panels of Fabry disease experts released recommendations for the management and treatment of Fabry disease in adult patients. The recommendations, published in 2018, include the following [13] :

  • In adult male and female patients with later-onset Fabry mutations or missense GLA variants of unknown significant (VUS), ERT should be considered and is appropriate once there is biochemical, histologic, or imaging evidence of injury to the kidney, heart, or central nervous system (CNS) attributable to Fabry disease, even in the absence of other typical Fabry symptoms
  • Individuals with later-onset Fabry mutations or missense GLA VUS who have well-characterized benign GLA polymorphisms should not be treated with ERT
  • In individuals with later-onset Fabry mutations or missense GLA VUS who have no demonstrable Fabry disease–related tissue pathology or clinical symptoms, ERT may not be appropriate, particularly in heterozygous female patients; these patients should be monitored regularly by a multidisciplinary care team
  • Patients with poor clinical outcome on ERT should be tested for agalsidase inhibition; the higher agalsidase formulation of 1.0 mg/kg every 2 weeks may be necessary to overcome the impact of immunoglobulin G (IgG) anti-agalsidase antibodies in patients with greater disease severity
  • Treatment with ERT should be combined with supportive interventions, if indicated, to clinically manage the renal, cardiac, neurologic, and other complications of Fabry disease–induced chronic tissue injury
  • A standard management approach is recommended for chronic kidney disease
  • Regarding cardiac complications, consider angiotensin-converting enzyme inhibitors (ACEIs) or angiotensin receptor blockers (ARBs); beta blockers should be used with caution and amiodarone avoided in patients receiving ERT
  • Delayed gastric emptying and dyspepsia symptoms may be successfully treated with metoclopramide and H2 blockers, respectively; dysmotility and diarrhea may be treatable with dietary changes (increased fiber intake, more frequent and smaller meals) and pharmacotherapy