Fabry Disease Study

Fabry disease is a rare, genetic condition that results from the build-up of a type of fat, globotriaosylceramide, in the cells of the body. This can start in childhood and it causes symptoms that include: pain, especially in the feet and hands, clusters of small, dark red spots on the skin called angiokeratomas, difficulty sweating; cloudiness in the eye; gastrointestinal system problems; ringing in the ears and hearing loss. Fabry disease also can lead to progressive kidney damage, heart attack and stroke. It can be difficult to diagnose, especially in women.

Often, the disease has often been diagnosed by measuring the alpha-galactosidase A enzyme activity in leukocytes, plasma or cultured fibroblasts. This is done by a blood test. However, some females with Fabry disease have normal levels of alpha-galactosidase A and it may be missed if this is the only test used for diagnosis or screening. In contrast, nearly 100% of affected males are detected by measuring alpha-galactosidase A activity. 

Therefore, molecular genetic testing is the most reliable method to diagnose and screen for females with Fabry disease, but is not generally practical due to its high cost.  Most recently, a novel simple screening test for Fabry disease has been developed, which uses dried blood spots (DBS) on filter paper for measuring alpha-galactosidase A activity. The test is commercially available at several clinical laboratories around the world, but none as yet in Australia. The DBS collection is via direct blood spotting from a finger-prick.

The Fabry Disease study primary aim is to determine the feasibility of screening for Fabry disease among people aged 18-55 years, living in the community after stroke and registered in the Australian Stroke Clinical Registry (AuSCR).

The secondary aims are to evaluate:

  • The effectiveness of using a screening checklist form for potentially eligible participants who are registered in AuSCR.
  • Whether the use of a Dried Blood Spot (DBS) testing system for Fabry disease is a valid and reliable method for use in Australia.
  • If the uptake by participants, management processes, and communication between providers justifies the effort in coordinating a screening program that is limited to people living in the community after stroke.
  • If a larger, routine screening program linked to a stroke clinical registry would be worthwhile within Australia.