Phenotype Features
  • Symptoms may begin in childhood, with males affected earlier than females
  • Presentation occurs with a full spectrum of symptoms:
    • Symptoms are progressive and can include neurological pain, acroparesthesia, and episodic “Fabry crises” of acute pain lasting from hours to days
    • Significant renal, cardiac, and cerebrovascular complications develop after age 20
Variant atypical, or late-onset1-3
  • Symptoms typically present in a patient’s fourth to sixth decade. The disease may be milder but continues to progress
    • Some patients may experience symptoms in childhood but do not manifest the complete spectrum of symptoms seen in the classic phenotype
  • Adult-onset cardiac and renal variants seem to be more prevalent than the classic disease. This may explain the many cases of midlife cardiac and renal disease
    • Cardiac variant
      • This is the most widely reported atypical variant.
      • Manifestations include unexplained cardiomegaly, left ventricular hypertrophy (LVH), cardiomyopathy, hypertrophic cardiomyopathy, and myocardial infarction (MI)
    • Renal variant
      • The main attribute is end-stage renal disease (ESRD)
      • Detection is important as patients may later develop vascular disease of the heart or brain
  • Symptoms tend to occur at a later age than for males, with the disease still potentially progressive and severe
  • It is a common misconception that females are just carriers of a defective GLA gene. In fact, they have active disease
  • The disease takes a more variable course in females
    • Rarely, some patients may be asymptomatic
    • Although symptom presentation may be delayed, there are still numerous cases in which females experience the symptoms associated with classic disease
  • Females typically have a more drawn out or lengthened course of disease compared with male patients
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  1. El-Abassi R, Singhal D, England JD. Fabry’s disease. J Neurol Sci. 2014;344(1-2):5-19.
  2. Sivley MD. Fabry disease: a review of ophthalmic and systemic manifestations. Optom Vis Sci. 2013;90(2):e63-e78.
  3. Kusano E, Salto O, Akimoto T, Asano Y. Fabry disease: experience of screening dialysis patients for Fabry disease. Clin Exp Nephrol. 2014;18(2):269-273.
  4. Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30. doi:10.1186/1750-1172-5-30.
  5. Deegan PB, Baehner AF, Barba Romero M-A, Hughes DA, Kampmann C, Beck M. For the European FOS investigators. Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet. 2006;43(4):347-352.
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