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Dear Fabry Community,
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Fabry Disease Phenotypes and Their
Associated Symptoms

Classic and non-classic (later-onset) phenotypes

Patients with Fabry disease are often categorized as1,2:

  1. Those with the classic phenotype, in whom multiple symptoms tend to manifest during childhood or adolescence, and
  2. Those with the non-classic or atypical phenotype, in which symptoms have a later onset and are sometimes limited to the kidneys or heart, presenting in the fourth to sixth decade of life

Unfortunately, both phenotypes can lead to renal failure, cardiac disease, and serious complications, and typically shorten lifespan.3 Some experts therefore prefer to describe Fabry as a disease with a wide spectrum of heterogeneous, progressive clinical phenotypes.2,4

Heterozygous women can experience a variable presentation of Fabry disease, ranging from asymptomatic or mild symptoms to symptoms that are as severe as those experienced by male patients.1

Phenotypes

Classic2,5

  • 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

Non-classic2,5,6

  • 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 with the classic phenotype
  • Adult-onset cardiac and renal variants seem to be more prevalent than with the classic phenotype. 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)
      • Early detection is important, as patients may later develop vascular disease of the heart or brain
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References:

  1. Desnick RJ, Brady R, Barranger J, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003;138(4):338-346.
  2. El-Abassi R, Singhal D, England JD. Fabry’s disease. J Neurol Sci. 2014;344(1-2):5-19.
  3. National Organization for Rare Disorders. Fabry Disease. https://rarediseases.org/rare-diseases/fabry-disease. Accessed August 21, 2019.
  4. Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30.
  5. Sivley MD. Fabry disease: a review of ophthalmic and systemic manifestations. Optom Vis Sci. 2013;90(2):e63-e78.
  6. 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.