Fabry's disease is a rare condition that affects the body's ability to break down and use a fat called globotriaosylceramide, causing it to build up in the tissues of the body. These fatty deposits can occur anywhere in the body and may be associated with a range of symptoms, from relatively mild to life-threatening, such as stroke or heart attack.
Symptoms of Fabry's disease vary depending on how severe the condition is and what areas of the body are affected.
General symptoms include:
- Episodes of pain in the hands or feet
- Cluster of rashes on the skin
- Reduced ability to sweat
- Cloudiness in the front part of the eye
- Ringing in the ears
- Hearing loss
- Problems with the gastrointestinal system
The fatty deposits can also result in a heart attack or stroke if they limit or block the blood flow to certain areas of the body.
Patients who have experienced a heart attack may have the following symptoms:
- Shortness of breath
- Chest pain that spreads into the arms, back or jaw
- Heavy pounding of the heart
- Abnormal heart rhythm
- Loss of consciousness
Patients who have experienced a stroke may notice the following symptoms:
- Sudden numbness or weakness of the face, arm or leg, especially on one side of the body
- Sudden confusion
- Sudden trouble speaking
- Sudden trouble seeing in one or both eyes
- Sudden trouble walking
- Sudden dizziness, loss of balance or coordination
- Sudden, severe headache with no known cause
Causes and Risk Factors
Fabry's disease is caused by a change in the GLA gene, which helps create an enzyme (alpha-galactosidase) that breaks down globotriaosylceramide.
Men are more likely to have the condition. The condition is rare and occurs in an estimated 1 out of every 40,000 to 60,000 men.
When women are diagnosed with Fabry's disease, they often have a milder form of the condition.
Diagnosis of Fabry's disease usually begins with a physical exam and a review of the patient's medical history and symptoms. Positively diagnosing the condition will be based on blood tests and the findings of other diagnostic tests. Imaging tests will be used to help diagnose the condition and better understand the patient's symptoms.
A blood test is used to examine the level of alpha-galactosidase activity in the body. In patients with Fabry's disease, there will be lower enzyme activity.
Imaging tests, such as magnetic resonance imaging (MRI), computed tomography (CT) scans or a cerebrovascular evaluation can help the medical team better understand what is going on inside the body. An MRI or CT scan can be used to look for areas of the brain that resemble stroke conditions and can help determine whether neurological damage has occurred. A cerebrovascular evaluation will look at the affected blood vessels and may include an angiography.
Because the fatty deposits can cause cardiovascular disease, evaluation of the patient's cardiovascular health may also be conducted. A cardiovascular evaluation will look at the heart and blood vessels and may include additional imaging tests such as an echocardiography or angiography.
There is no cure for Fabry's disease. However, in some cases the disease can be stopped from progressing if treated early enough. The first treatment generally is an enzyme replacement therapy which works to normalize the body's ability to break down the fat.
If a patient has experienced a heart attack due to the condition, the knowledgeable and highly trained staff at the Cedars-Sinai Heart Institute will work with each patient to determine the best treatment option.
For patients who have experienced a stroke, the Stroke Program provides a multidisciplinary treatment approach through a personalized treatment plan tailored to each patient. Patient care is generally broken down into three categories: stroke prevention, treatment immediately after a stroke, and post-stroke rehabilitation.