Symptoms of Fabry Disease

Fabry disease causes many symptoms that also can happen with other conditions. This rare genetic disease also may trigger different problems in different people. And the symptoms can range from barely noticeable to very serious.

Common signs of Fabry disease may include:

  • Pain, numbness, burning, or tingling in your hands and feet
  • Small, dark red spots on your skin, often between your bellybutton and knees
  • Fevers
  • Sweating less than normal
  • Swelling in your legs and feet
  • Feeling weak and tired
  • Cloudy vision
  • Stomach pain and bowel movements just after eating

Fabry Symptoms in Women and Men

This disease is much more common in men than it is in women. The condition also can affect the sexes differently. In general, women with Fabry disease are more likely than men to have no or milder symptoms.

Kidneys. Kidney failure is a major cause of early death in men with Fabry disease. But this rarely is true of women.

The narrowing of blood vessels caused by Fabry disease may damage your kidneys. It can get worse over time. Signs of kidney problems include blood in your urine and swelling in your lower legs, ankles, or feet. Protein buildup in your urine may require dialysis treatments.

Fabry disease can damage your heart and kidneys together or separately. If you have a milder form of the condition, this may happen when you’re older. And the disease may affect only these two organs.

Skin. Groups of small, dark red spots may show up. They don’t usually hurt. Boys with Fabry disease usually find them on their hands, knees, and elbows as well as the area between their knees and hips. Women tend to get fewer lesions, and rarely in their genital areas.

In older people, spots can show up on the lips, bellybutton, and palms, as well as around your fingers and toes.

Nervous system. For many, Fabry disease is marked by periods of pain, especially in your hands or feet. These episodes can last a short or a long time. They could be mild or so painful you don’t feel you can do anything else. Along with pain, you may have body aches and fever and often feel extremely tired.

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Numbness, tingling, burning, or pain, especially in your hands or feet, are common. Women and girls with Fabry disease often report severe nerve pain. Your condition may lead to arthritis.

Heart. Problems with this organ are common. Heart damage may lead to an irregular beat. Part of your heart may get enlarged or form scar tissue. Other problems include mitral insufficiency.

Eyes. Cloudy, hazy streaks or circle-shaped patterns may show up near the front of your eyes. This symptom is unusual, so it often helps doctors diagnose Fabry disease earlier. These streaks usually don’t affect your vision.

Ears. You may hear ringing in your ears, which is called tinnitus. You may even notice hearing loss that happens suddenly and gets worse over time, especially with higher sounds.

Lungs. Some people with Fabry disease often wheeze or are short of breath. You may also cough a lot, a problem that can get worse if you smoke.

Digestive system. Fabry disease often causes a variety of problems digesting food. Starting in childhood, you may have loose stools often or just once in a while. You might also be gassy and feel bloated, have cramps and nausea, and throw up. About half of the women with Fabry disease have symptoms similar to irritable bowel syndrome.

Sweat glands. Men and some women may make little or no sweat. That can make higher temperatures or exercising uncomfortable.

Symptoms of Type 1 and Type 2

Classic “type 1” Fabry disease can start in early childhood. Burning pain in the hands and feet may be one of the first symptoms.

Type 2 is also called “later-onset.” Men with Type 2 may have a normal childhood and normal early adulthood. Your symptoms may not show up until your 20s or later.

Both types of Fabry disease worsen with age, mostly because of the buildup of fatty substances in your blood vessels. The disease tends to follow more unpredictable paths among women.

WebMD Medical Reference Reviewed by Brunilda Nazario, MD on April 23, 2021

Sources

SOURCES:

National Fabry Disease Foundation: “What is Fabry Disease?” “Symptoms Overview,” “Fabry Disease Skin Symptoms,” Fabry Disease Eye Symptoms,” “Fabry Disease Audiology Symptoms,” “Fabry Disease Neurologic Symptoms,” “Fabry Disease Kidney Symptoms,” “Fabry Disease Heart Symptoms,” “Fabry Disease Pulmonary Symptoms,” “Fabry Disease Gastrointestinal Symptoms.”

U.S. National Library of Medicine: “Fabry Disease.”

National Center for Advancing Translational Sciences: “Fabry Disease.”

Fabry Disease Perspectives from 5 Years of FOS: “Chapter 30: Fabry disease in females: clinical characteristics and effects of enzyme replacement therapy.”

American Journal of Cardiology: “Cardiac manifestations of Fabry's disease. Report of a case with mitral insufficiency and electrocardiographic evidence of myocardial infarction.”

National Organization for Rare Disorders: “Fabry Disease.”

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