Fabry disease is a rare genetic disorder that affects the body’s ability to metabolize a type of fat called globotriaosylceramide (GL-3). This leads to the accumulation of GL-3 in various tissues and organs, which can cause a range of symptoms and complications.
Fabry disease is caused by mutations in the GLA gene, which provides instructions for making an enzyme called alpha-galactosidase A (α-Gal A). When this enzyme is deficient or absent, GL-3 accumulates in the body, leading to cellular damage and dysfunction.
Symptoms of Fabry disease can vary widely and may include:
- Pain and tingling in the hands and feet (acroparesthesia)
- Skin rash (angiokeratoma)
- Corneal opacity
- Abdominal pain and diarrhea
- Progressive kidney damage
- Heart disease, including arrhythmias, heart attacks, and stroke
The severity and progression of symptoms can vary depending on the age of onset and the extent of GL-3 accumulation in different organs. Some people with Fabry disease may have few or mild symptoms, while others may experience severe complications that can be life-threatening.
Diagnosis of Fabry disease typically involves a physical exam, medical history, and blood or urine tests to measure levels of GL-3 and α-Gal A. Genetic testing can also be used to confirm the diagnosis and identify the specific mutation causing the disease.
There is currently no cure for Fabry disease, but treatment can help to manage symptoms and prevent complications. Enzyme replacement therapy (ERT) is a common treatment for Fabry disease, which involves regular infusions of α-Gal A to help clear GL-3 from the body. Other treatments may include medications for pain, high blood pressure, or heart disease, as well as kidney transplant for those with severe kidney damage.
It is important for people with Fabry disease to receive regular monitoring and medical care to manage symptoms and prevent complications. Genetic counseling can also be helpful for families with a history of Fabry disease to understand the risks of inheritance and make informed decisions about family planning.
In summary, Fabry disease is a rare genetic disorder that leads to the accumulation of GL-3 in various tissues and organs, causing a range of symptoms and complications. Diagnosis typically involves blood or urine tests and genetic testing, and treatment may include ERT, medications, and kidney transplant. Regular monitoring and medical care are important for managing symptoms and preventing complications.