^Pain

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:

1. Ongoing burning, tingling pain, and discomfort. This type of pain is called acroparesthesia, and mainly affects the hands and feet.

2. Occasional episodes of intense, burning pain. These usually start in the hands and feet and 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 be brought on by changes in weather, exposure to hot temperatures, stress, exercise, and/or fatigue.

^{Impaired sweating}

Many people with Fabry disease sweat less than people without the disease. They may either perspire very little (hypohidrosis) or not at all (anhidrosis). This can cause overheating, frequent fevers, and sensitivity to weather extremes. Impaired sweating is generally caused by damage to the nerves and sweat glands.

^{Exercise intolerance}

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 all together.

^{Skin rashes}

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, like elbows or knees. Angiokeratomas usually appear during adolescence and can become larger and more numerous with age.

^{Corneal whorling}

Corneal whorling is a starburst pattern on the cornea of the eye. The starburst, or whorling, does not affect vision and can only be seen through a process called slit-lamp ophthalmoscopy, which is often part of a routine eye exam. Corneal whorling is caused by GL-3 deposits in the blood vessels of the eye and is another symptom that may lead a doctor to suspect the presence of Fabry disease.

^{Gastrointestinal problems}

Many people with Fabry disease experience stomach problems, which may range from mild to severe. These disturbances may include pain after eating a meal, diarrhea, and nausea.

^{Heart problems}

Heart problems are also common to Fabry disease and may become progressively worse with age. This is because GL-3 accumulation becomes greater over time and may cause increasing damage to the tissues and to the blood vessels supplying the heart. Heart problems may include:

• Enlarged heart
• Malfunctioning heart valves
• Irregular heartbeat
• Heart attack
• Heart failure

^{Kidney problems}

After years of GL-3 buildup, problems with the kidneys can develop, and kidney function can be compromised. Kidney damage can become so severe that the kidneys may lose some of their functionality (renal insufficiency) or may fail (renal failure). Thus, GL-3 accumulation in the kidneys may represent a major health risk for those with Fabry disease, and can be present in the absence of Fabry symptoms. However, kidney problems are not unique to Fabry disease. Often it is other signs and symptoms (like Fabry pain and angiokeratomas) that may lead a doctor to suspect Fabry disease.

^{Problems with the nervous system}

Significant GL-3 accumulation can thicken small blood vessels in the brain. As a result, people may experience a number of symptoms including:

• Weakness
• Head pain
• Numbness
• Dizziness
• Stroke

^{Psychological and social issues}

Living with difficult physical symptoms is only one of the challenges people with Fabry disease may face. They may experience fear, depression, isolation, or guilt about passing the disease along. Family members may be affected as well.