Fabry disease is a rare genetic disorder that affects various organs and systems in the body. It is caused by a mutation in the GLA gene, which leads to a deficiency of an enzyme called alpha-galactosidase A. This enzyme is responsible for breaking down a fatty substance called globotriaosylceramide (Gb3) in cells. Without enough of this enzyme, Gb3 accumulates in various tissues, including the kidneys, heart, skin, and nervous system.
The symptoms of Fabry disease can vary widely and may include episodes of severe pain, skin rashes, gastrointestinal issues, hearing loss, and cardiovascular problems. These symptoms typically appear in childhood or adolescence and worsen over time. Fabry disease primarily affects males, although some females may also experience milder symptoms.
Early diagnosis and treatment are crucial in managing Fabry disease. Enzyme replacement therapy (ERT) is the mainstay of treatment, which involves regular infusions of the missing enzyme to help reduce Gb3 buildup. ERT can help alleviate symptoms, slow disease progression, and improve quality of life for individuals with Fabry disease.
It is important for individuals with Fabry disease to work closely with healthcare professionals to develop a personalized treatment plan and manage associated complications. Genetic counseling is also recommended for affected individuals and their families to understand the inheritance pattern and potential risks.