General Description

Fabry disease is an X-linked lysosomal disorder caused by a faulty gene. Because of this error an essential enzyme known as alpha galactosidase, is either missing or is present in insufficient amounts.

Without this enzyme, certain substances primarily one called globotriaosylceramide, or GL-3 are not removed from the body, and builds up in the cells. It is this progressive build-up of materials that cause most of the problems in Fabry disease.

Symptoms

Characteristic features of Fabry disease include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); and hearing loss. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. Milder forms of the disorder may appear later in life and affect only the heart or kidneys.

How common is Fabry disease?

Fabry disease affects an estimated 1 in 40,000 males. This disorder also occurs in females, although less frequently. Milder, late-onset forms of the disorder are probably more common than the classic, severe form.

What other names do people use for Fabry disease?

  • Alpha-galactosidase A deficiency
  • Anderson–Fabry disease
  • Angiokeratoma corporis diffusum
  • Angiokeratoma diffuse
  • Ceramide trihexosidase deficiency
  • Fabry’s disease
  • GLA deficiency
  • Hereditary dystopic lipidosis

Treatments for Fabry disease

Enzyme replacement therapy is now available for Fabry disease. This treatment helps to reduce the storage of glycosphingolipids, ease pain, and improve organ function.

The Hide and Seek Foundation has a nice summary of Fabry disease.

Medical and Research Information

  • Genetic Home Reference – This has an excellent description of Fabry disease with good references to other information and resources.
  • GeneReviews gives good descriptions of genetic diseases. Information is comprehensive, and access is free to all users.
  • GeneTests – Gives a list of labs who do testing for Fabry disease.
  • Clinical Trials – A registry of federally and privately supported clinical trials conducted in the United States and around the world. This site gives you information about the trial’s purpose, who may participate and the locations. 
  • Genetic and Rare Diseases Information Center (GARD), a collaborative effort of two agencies of the National Institutes of Health, The Office of Rare Diseases Research (ORDR) and the National Human Genome Research Institute (NHGRI) to help people find useful information about genetic conditions and rare diseases.
  • Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access is free of charge.
  • OMIM – This link has technical information about the genetics of this disorder. It is a site developed for scientists and medical specialists and contains both general and highly technical information. Access to this site if free.

Patient Support Groups