Fabry disease is a form of lysosomal storage disease caused by mutations to the GLA gene.1,2 It is a rare hereditary condition brought on by the accumulation of globotriaosylceramide, a type of fat in the body cells.2

The early detection of Fabry disease is difficult and its symptoms are frequently misdiagnosed.3

Signs and Symptoms2

Pain in the hands or feet

Small, dark red spots on the skin

Sweating difficulties

Corneal verticillata
Opacity of the cornea

Ringing in one or both ears

Loss of hearing

Heart attacks

Kidney damage

Gastrointestinal problems

Onset of Symptoms1,4

The typical ages for symptoms of the disease to appear

Potential Complications2

Dried Blood Spot (DBS)

Dried Blood Spot (DBS)

    1. Genetic and Rare Diseases Information Center. Fabry disease. Available at https://rarediseases.info.nih.gov/diseases/6400/fabry-disease. Accessed on 12 September 2022.
    2. National Library of Medicine. Fabry disease. Available at https://medlineplus.gov/genetics/condition/fabry-disease/#causes. Accessed on 12 September 2022.
    3. Sunder-Plassmann G, Födinger M. Diagnosis of Fabry disease: the role of screening and case- nding studies. Fabry Disease: Perspectives from 5 Years of FOS. 2006.
    4. Cleveland Clinic. Fabry disease. Available at https://my.clevelandclinic.org/health/diseases/16235-fabry-disease#. Accessed on 4 October 2022.


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MAT-MY-2201068 11/2022