Fabry disease is an inherited disorder that results from the buildup of a type of fat called globotriaosylceramide in the bodys cells. It is a rare genetic lysosomal storage disorder that affects several systems of the body. The disease occurs when the body is unable to break down fatty substances called lipids due to missing or faulty enzymes. The enzyme alpha-galactosidase-A is deficient in Fabry disease, which leads to the buildup of harmful levels of sphingolipids in the blood vessels and tissues. The symptoms of Fabry disease include pain in the hands and feet, clusters of small, dark red spots on the skin, decreased ability to sweat, cloudiness or streaks in the front part of the eye, problems with the gastrointestinal system, ringing in the ears, and hearing loss. The disease is pan-ethnic, but due to its rarity, determining the accurate frequency is difficult. The reported incidence is 1/47,600 to 1/117,000 in the general population, but the true prevalence is much higher, especially in patients with chronic kidney disease and those on kidney dialysis. There is no cure for Fabry disease, but enzyme replacement therapy can reduce lipid storage, ease pain, and preserve organ function in some people with the disease. Drugs are often prescribed to treat pain and gastrointestinal distress that accompanies Fabry disease but do not treat the disease. The U.S. Food and Drug Administration (FDA) has approved migalastat (Galafold) as an oral medication for adults with Fabry disease who have a certain genetic mutation. Anti-platelet medications can help prevent strokes, and medications that lower blood pressure can slow the decline of kidney function in people with Fabry disease. Some individuals may require kidney transplants or dialysis. It is important to ask your physician to get tested for Fabry’s disease if you have a family history. A simple blood test to measure the levels of the enzyme (alpha-Gal A), or even a DNA test, can confirm the diagnosis.