What is Fabry Disease?
Fabry disease is a disorder inherited in an x-linked manner, which prevents the body from producing the enzyme responsible for breaking down fat. The deficiency of alpha-galactosidase (α-Gal A) results in accumulating a type of fat in the body cells, causing damage. Patients with this disease start to have symptoms during their childhood. Appropriate treatment may increase patients' quality of life.
How to diagnose?
A blood test measuring enzyme (α-Gal A) level activity and genetic testing will confirm the diagnosis. In some cases, doctors may recommend family members to get tested even if they do not present symptoms.
What is the treatment?
Enzyme replacement therapy is the primary option and helps patients reduce symptoms. Substrate reduction therapy is another treatment available for Fabry Disease. Patients experiencing gastrointestinal, heart, or kidney pain should be remedied and advised accordingly by their Fabry disease specialist and primary doctor. Patients should work closely with their doctors to develop a treatment plan to decrease symptoms and improve their quality of life.
Type 1 - Classic Phenotype
Patients begin to notice symptoms during childhood or adolescence. Males are the most affected by the disease because they have limited or no α-Gal A enzymatic activity. As age increases, glycolipids start accumulating in different parts of the body, especially in the microvascular system. It results in kidney problems, heart disease, and strokes, shortening lifespan.
Type 2 - Late-Onset Phenotype
Men with Type 2 Fabry disease present residual enzyme activity. Due to less accumulation of fat in body cells, they experience fewer symptoms during childhood and adolescence. Patients usually present with renal and/or cardiac disease later on in life.
Most patients experience pain, and the intensity varies from person to person. The most common locations are hands, feet, fingers, and toes, but it can extend to other parts of the body. It is often described as burning, tingling, stabbing, prickling, or even feeling sore. Patients may experience intense pain crises that can last for hours.
More common symptoms include: Heat flashes, decreased ability to sweat, dark spots on the skin, gastrointestinal problems, ringing in the ears, and hearing loss.
The most severe form of the disorder can result in life-threatening symptoms such as heart attack, stroke, and kidney issues.
3,000 to 7,000Estimated Cases Worldwide
Spots on the Skin
Ringing in Ears
*See details for each type
Enzyme Replacement Therapy (ERT)
Substrate Reduction Therapy (SRT)