Fabry disease is a progressive lysosomal storage disorder resulting from a genetic deficiency or dysfunction of the alpha-galactosidase A enzyme in the body. This condition leads to the accumulation of fatty substances called globotriaosylceramide (GL-3) in cells, particularly in blood vessels, nerves, and various organs. Fabry disease is a progressive and potentially life-threatening condition, often manifesting with more severe symptoms in males, though it can also affect females with varying degrees of severity.
The accumulation of these lipids increases the risk of serious complications such as heart attack, stroke, and kidney failure. Common symptoms of the disease include pain and numbness in the hands and feet (acroparesthesias), heat or cold intolerance, gastrointestinal problems, dizziness, angiokeratomas (skin lesions), and eye abnormalities like corneal clouding.
Treatment options include enzyme replacement therapy (ERT) and oral chaperone therapy, which aim to slow the progression of the disease and alleviate symptoms. These treatments play a critical role in preventing severe complications.