Signs and Symptoms
Recognizing Fabry disease
Many of the symptoms of Fabry disease are also common to other diseases, which may make diagnosis difficult. In addition, the symptoms of Fabry disease can occur differently for every individual. Each person with Fabry may have all or only a few of the typical signs and symptoms or may experience symptoms at different times throughout life. That’s why it’s important to discuss symptoms and risk factors, as well as whether there are other family members with known or suspected Fabry disease, with your doctor.
Fabry disease symptoms
Most of the symptoms of Fabry disease can be attributed to GL-3 accumulation and the resulting damage to body tissues. Click on this animation to see how Fabry disease may affect different areas of the body.
Pain and burning in the hands and feet
Pain is one of the more common symptoms of Fabry disease, and is often one of the first symptoms people experience. There are two major types of pain associated with Fabry disease:
- Ongoing burning, tingling pain, and discomfort. This type of pain is called acroparesthesia, and mainly affects the hands and feet.
- Occasional episodes of intense, burning pain. These usually start in the hands and feet, and can often spread to other parts of the body. These are called "Fabry crises", and can be debilitating. Fabry crises may last anywhere from minutes to several days.
Pain can also be brought on by changes in weather, exposure to hot temperatures, stress, exercise, and/or fatigue.
Although the causes of fatigue in Fabry disease are not well understood, it is a common symptom of the disease. People with Fabry disease may need to manage their activity level and take frequent breaks.
Many people with Fabry disease either perspire very little (hypohidrosis) or not at all (anhidrosis). This can cause overheating, frequent fevers, and sensitivity to extremes in temperature. Impaired sweating is generally caused by damage to the nerves and sweat glands.
Low tolerance for exercise
Some people with Fabry disease are unable to tolerate physical exertion, and may tire or become overheated even after mild activity. Physical exertion may also trigger episodes of pain. For these reasons, people with Fabry disease may need to modify their physical activities and/or avoid certain activities altogether.
Dark red skin rashes (angiokeratomas)
One of the most visible signs of Fabry disease is a reddish-purplish rash called angiokeratoma. This rash is characteristic of the disease, and may lead doctors to suspect Fabry disease. Angiokeratomas are generally located between the navel and the knees (doctors call this “bathing trunk distribution”), and sometimes in areas where the skin stretches, such as elbows or knees. Angiokeratomas usually appear during adolescence, and can become larger and more numerous with age.
Eye abnormalities (such as corneal whorling) that do not typically affect vision
Another sign of Fabry disease is corneal whorling, a starburst pattern on the cornea caused by GL-3 accumulation in the blood vessels of the eye. Corneal whorling can only be seen through a slit-lamp ophthalmoscopy exam. It typically does not affect vision.
Many people with Fabry disease experience stomach problems, which can range from mild to severe. These disturbances may include pain after eating a meal, diarrhea, vomiting and nausea.
As GL-3 accumulates over many years, progressive damage can occur to the tissues of the heart, as well as to those blood vessels that supply the heart. Heart problems due to Fabry disease may include:
- Enlarged heart
- Malfunctioning heart valves
- Irregular heartbeat
- Heart attack
- Heart failure
After years of GL-3 build-up, problems with the kidneys can develop, and kidney function may become compromised. Kidney damage can become so severe that the kidneys do not function properly (renal insufficiency) or may fail (renal failure). Thus, GL-3 accumulation in the kidneys represents a major health risk for those with Fabry disease, and may be present in the absence of kidney disease symptoms. However, kidney problems are not unique to Fabry disease. Often, it is other signs and symptoms (like pain and angiokeratomas) that may lead a doctor to suspect Fabry disease.
Nervous system problems
Significant GL-3 accumulation can thicken small blood vessels in the brain. As a result, people may experience a number of symptoms including:
- Head pain
Hearing loss and tinnitus (ringing in the ears) may develop in adulthood.
Psychological and social issues
Often the difficult physical symptoms are only one of the challenges that people living with Fabry disease may face. They may also experience fear, depression, isolation, or guilt about passing the disease along.
To help people cope with these feelings, there are support groups specific to Fabry disease, as well as support groups for rare diseases generally. For support group listings, please visit the Online Resources section of this site.