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Fabry Disease - Rare Disease Quick Facts

AUGUST 28, 2013
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Fabry disease is an X-linked lysosomal storage disorder that leads to excessive deposition of globotriaosylceramide ( GL-3) throughout the body. Skin, eye, kidney, heart, brain, and peripheral nervous system are highly vulnerable. Fabry disease is often difficult to diagnose since signs and symptoms are often nonspecific.

Symptoms

Many symptoms associated with Fabry disease are nonspecific making it a difficult disease to diagnosis. Not all symptoms may appear nor develop in any particular order. However, younger patients may have some or all of the following:

  • Burning, tingling pain in the hands and feet
  • Pain radiating throughout the body
  • Impaired sweating
  • Heat/cold intolerance
  • Skin rashes (angiokeratomas)
  • Corneal whorling (pattern on the cornea of the eye – generally does not affect vision and can only be seen using special eye exam equipment called a slit lamp)
  • Psychological issues, such as depression

As patients get older, other symptoms may also appear, including:

  • Hearing problems
  • Gastrointestinal problems, such as diarrhea or vomiting
  • Heart problems (including enlarged heart and heart valve problems)
  • Impaired kidney functions
  • Stroke

Diagnosis

  • Many patients are not diagnosed until adulthood
  • Symptoms are similar to those of other more common disorders, such as rheumatoid or juvenile arthritis, rheumatic fever, erythromelalgia, neurosis, Raynaud’s syndrome, multiple sclerosis, lupus, acute appendicitis, “growing pains” or malingering, petechiae, or collagen vascular disease.
  • The diagnosis is often the result of a combination of signs & symptoms as well as a family history of either Fabry disease or early stroke &/or renal/cardiac problems.
  • Diagnosis can be confirmed with an enzyme assay.

Treatment

  • Fabrazyme (agalsidase beta) and Replagal (agalsidase alpha) are an enzyme replacement therapies (ERTs) that reduces GL-3 levels.  
  • ERT is not a cure but can normalize renal function, cardiovascular concerns. 
  • Fabrazyme is administered every 2 weeks via an intravenous (IV) infusion which can take up to several hours. Fabrazyme is the only orphan drug currently approved by the FDA for treatment in the United States.
  • Replagal is also administered every 2 weeks via an intravenous (IV) infusion. It is currently approved in the United Kingdom. Shire, the manufacturers of Replagal withdrew their application to the FDA in 2012 citing have more clinical studies would be needed to gain FDA approval.
  • Other treatment options are currently in development, including migalastat and gene therapy

Patient Organizations

 

Image of Corneal whirling courtesy of wikimedia commons



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