Understanding Fabry Disease: Causes, Symptoms, Diagnosis, and Treatment Options

Fabry disease is a rare genetic disorder that runs in families. It occurs when your body cannot produce enough of an enzyme called alpha-galactosidase A, which is needed to break down fatty substances in your cells. As a result, these fatty substances called globotriaosylceramide (GL-3) build up and can cause damage to various organs, including the skin, kidneys, heart, brain, and nervous system.

Causes of Fabry Disease

Fabry disease is an inherited condition passed down through genes. If you have Fabry disease, it means you were born with a deficiency or absence of the alpha-galactosidase A enzyme. This enzyme is essential for breaking down fatty substances like oils, waxes, and fatty acids in your body.

Symptoms of Fabry Disease

The symptoms of Fabry disease can vary from person to person, but some common signs include:

• Pain and burning in the hands and feet, especially during exercise, fever, or hot weather

• Small, dark red spots on the skin between the bellybutton and knees (angiokeratomas)

• Heat and cold tolerance

• Cloudy vision and hearing loss

• Ringing in the ears

• Reduced sweating

• Stomach pain and frequent bowel movements after eating

If left untreated, Fabry disease can lead to more serious complications, such as:

• Increased risk of heart attack or stroke

• Stroke or transient ishemic attacks (TIA)

• Kidney problems, including kidney failure

• High blood pressure

• Heart failure and enlarged heart

• Osteoporosis

Diagnosing Fabry Disease

Diagnosing Fabry disease can be challenging because its symptoms are similar to those of many other illnesses. Often, people with Fabry disease see several doctors for various symptoms before receiving the correct diagnosis. If you have a family history of Fabry disease, consider discussing genetic testing with your doctor.

During the diagnostic process, your doctor will perform a physical exam and ask about your symptoms, medical history, and family background. To confirm the diagnosis, they may order a blood test to measure the level of alpha-galactosidase A or a DNA test.

Treatment Options for Fabry Disease

Although there is no cure for Fabry disease, treatments are available to manage symptoms and slow the progression of the disorder. The most common treatment is enzyme replacement therapy (ERT), which involves regular infusions of the missing enzyme. This helps your body break down fatty substances and reduces pain and other symptoms.

Another treatment option is the oral medication migalastat (Galafold), which works by stabilizing the enzymes that are not functioning properly. This can also help alleviate the effects of the disease on your organs.

In addition to these specific treatments, your doctor may recommend:

• Pain relief medications

• Medications for stomach problems, such as gastroparesis

• Blood thinners or other drugs for heart issues

• Blood pressure medicine to protect your kidneys

Regular monitoring through blood tests, heart exams, brain scans, and other diagnostic procedures is essential to track your progress and adjust treatment as needed.

Living with Fabry Disease

Living with Fabry disease can be challenging, but there are ways to manage the condition and maintain a good quality of life. Be sure to follow your treatment plan, attend regular check-ups, and communicate openly with your healthcare team. Engage in activities you enjoy, spend time with supportive friends and family, and prioritize your well-being.

Remember, you are not alone. Organizations like the Fabry Support & Information Group can connect you with others living with Fabry disease and provide valuable resources and support.

For more information on Fabry disease, visit:

• National Organization for Rare Disorders (NORD) - Fabry Disease

• Genetics Home Reference - Fabry Disease

• National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) - Fabry Disease