Fabry disease is a metabolic disorder that is part of a group known as lysosomal storage diseases. It causes fatty substances to build up in the blood and blood vessels. The buildup slows or blocks blood flow to the organs. It can cause problems in the skin, kidneys, heart, and nervous system.
Fabry disease is caused by low levels of an enzyme called alpha galactosidase-A due to a problem in the genes. This enzyme is needed to break down fatty substances. The specific genes that create the enzymes are faulty. The faulty gene is inherited from the parents. Males who inherit the defective gene will have the disease. Females who have a single copy of the gene are called carriers. Most will not develop any symptoms, but they can pass the gene to their offspring. However, some women do have symptoms. Women may sometimes be as severely affected as men too.
Factors that may increase the risk of Fabry disease include:
Symptoms may begin in childhood or early adulthood. Common symptoms include:
As adults, both male and female may have the following complications due to blood vessel blockage:
There is no cure for Fabry disease. There is medication to treat the condition.
Patients with Fabry disease often survive into adulthood but are at increase risk of strokes, heart attack and heart disease and kidney failure.
There is no known way to prevent Fabry disease. Genetic counseling can be considered if there is family history of the disorder.
Last Modified : 9/14/2023