What are the Symptoms of Fabry Disease? PainSkinEyeKidneyHeartBrain
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Pain is common in the hands and feet, and occurs in childhood onwards. This pain can be brought on by changes in temperature, stress or fatigue. The pain may be shooting or ‘bony’, as though it is coming from deep within the arm or leg. The medical term for this pain is acroparathesia.
Pain may also occur in the tummy, particularly after meals, and frequent bowel movements are quite common in patients with the disease.
People with Fabry disease are less inclined to sweat, which makes the control of their body temperature very difficult. The medical term for this is hypohidrosis.
Many patients have small reddish purplish dots on their skin around the bellybutton and the bathing suit area. The spots do not cause pain are are not usually very prominent, but the particular shade and distribution of the spots is unique to Fabry disease. Thus people with Fabry disease may be favourites as invited subjects to test young doctors in medical examinations!
Changes in the cornea of the eye with the appearance of a ‘starburst’ can be seen in some patients, by an eye specialist using special equipment. They do not usually cause serious visual disturbance or blindness.
Kidney function is usually normal in childhood, but the slow build up of GL-3 in the kidney causes progressive damage. Most people with Fabry disease slowly develop kidney failure, and need dialysis or a kidney transplant in their 20’s. A kidney transplant does not get affected by Fabry disease because it contains small amounts of the enzyme alpha-galactosidase from the donor, which protects the kidney (but unfortunately cannot help Fabry disease in the rest of the body).
Treatment with enzyme replacement may, in the future, be able to prevent the development of kidney failure in many people with Fabry disease.
The storage of the GL-3 in the heart begins to affect function in some patients, and the most common signs are enlargement of the heart, irregular heartbeat, heart valves not functioning as normal, and in the more severe cases, heart attack. Heart disease is one of the main causes of premature death in Fabry disease, but it is hoped that enzyme treatment will prevent many such deaths.
People with Fabry disease are more vulnerable to stroke, as small arteries in the brain become narrowed by GL-3. If a blood vessels in the brain blocks completely, part of the brain may be starved of blood and damaged, causing a stroke. This may be weakness down one side of the body, or more subtle effects on thought processes and co-ordination.
NKF Controlled Document No. 43, What are the Symptoms of Fabry Disease?, written 23 November 2002. Last reviewed 29 November 2010.
The National Kidney Federation cannot accept responsibility for information provided. The above is for guidance only. Patients are advised to seek further information from their own doctor.
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Page created: 23 November 2002
Last updated: 27 February 2011