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 to kidneys, heart, and brain vasculature. Patients with this disease start to have symptoms later in 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 males. In females, the diagnosis is made through genetic testing. In one family, multiple members may be affected, including all daughters of a male patient with FD. It is recommended to get family members tested even if they do not have symptoms.

What is the treatment?
Enzyme replacement therapy is the primary option and helps patients reduce symptoms. In addition, oral pharmacological chaperone could be used in patients with certain GLA genotypes. Substrate reduction therapy is another treatment currently studied in clinical trials. There are also ongoing gene therapy trials for Fabry disease. Patients experiencing pain and/or gastrointestinal, cardiac, or kidney-related problems should seek help from the specialists and the physician expert in Fabry disease. Patients should work closely with their doctors to follow a treatment plan to alleviate symptoms and improve their quality of life.

 Fabry Disease

Classic Phenotype

Patients begin to notice symptoms during childhood or adolescence. Males are more severely affected by the disease because they have limited or no α-Gal A enzymatic activity. With advancing age, glycolipids continue accumulating in different parts of the body, especially in the microvascular system of the kidneys, heart, brain, and the nervous system, resulting in severe pain, progressive kidney disease, cardiomyopathy, and strokes. Unless treated, the lifespan is shortened in both males and females.

Late-onset Phenotype

Men with Late-onset Fabry disease may have higher residual α-Gal A enzymatic activity. Due to less fat accumulation in body cells, there may be fewer symptoms during childhood, and the presentation may occur in adulthood. Male and female patients with Fabry disease are diagnosed with cardiac disease and may have varying degrees of pain, kidney involvement, and/or strokes later 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.

Other common symptoms include decreased ability to sweat, red 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, heart failure, stroke, and kidney failure.

8,000Estimated number of patients with Fabry disease in US


Pain in the hands and feet (acroparesthesia)

Corneal whorls

Red rash, especially involving the flanks, around the umbilicus, and between the upper legs

Heart issues

Kidney problems

Ringing in ears


*See details for each type


Enzyme Replacement Therapy (ERT)

Pharmacologic Chaperone Therapy (PCT) (for patients with amenable GLA mutations)

Substrate Reduction Therapy (SRT)
(Clinical trials for male and female patients with FD impacted with pain or cardiac involvement)