Fabry Disease

What is Fabry disease?

Fabry disease is a rare disease that is inherited.  It is a result of too much fat being built up in the body’s cells. The disease effects more males then females, with approximately 1 in 40,000 to 60,000 males having it. Milder cases are more common than severe cases. The disease is inherited by an X linked pattern.   The mutated gene is carried on the mother’s X chromosome, meaning her daughters will have a 50% chance of carrying the disease and her sons will have a 50% chance of getting the disease.

Fabry Disease Symptoms

Symptoms of Fabry disease include pain that is either localised or full body pain.  The localised pain will often happen in the extremities, and can be related to damage of the peripheral nerve fibers.  These fibers are responsible for transmitting pain. The painful burning sensation in the hands and feet is called acroparesthesia.  This pain is often severe and will worsen with exercise, stress, illness and a change in temperature.  This is usually one of the first symptoms that is present. Kidney complications are another symptom of fabry disease. Renal failure could get worse as the disease progresses. Proteinuria, which causes cloudy urine, is usually the first sign that the kidneys are involved in the disease. Renal failure is a common cause of death in the disease. Cardiovascular complications can occur and lead to hypertension and cardimyopathy.  These two conditions should be closely monitored. Glycolipids build up in the heart cells, and the condition can worsen with age. Tiny papules that are painless can occur on the thighs, around the belly button, lower abdomen, groin and buttocks.  They can also occur on the lips, tongue, hands and toes. This red rash can be confined to small areas on the body, but could also effect a larger portion of the body.  Anhidrosis, or lack of sweating, is a common symptom of fabry disease.  A less common symptom is hyperhidrosis, or excessive sweating.  Raynoud’s disease  like symptoms can also occur, such as burning extremity pain.  Clouding of the corneas could be a result of fabry disease, as could retinal vascular dilation, mascular edema, and posterior spoke like cataracts. Other common symptoms include ringing in the ears, fever, hearing loss, nausea, fatigue, neuropathy, inability to gain weight, chemical imbalances, vertigo, and diarrhea.  Early gastrointestinal symptoms also include frequent bowel movements after eating and abdomen cramps.

Diagnosing Fabry Disease

Fabry disease can be diagnosed with an enzyme assay.  This will measure the level of alphagalactosidase activity.  A kidney biopsy may also be done if there is excessive buildup of lipids.

Fabry Disease Treatment

Treatment for fabry disease could include Fabrazume, which was approved by the FDA in 2003.  This enzyme replacement therapy is used to provide the patient receiving the treatment with the enzyme  that is missing.  While this treatment is not a cure, it could reverse some of the symptoms and can prevent the prognosis of the disease.  This treatment is expensive, about $200,000 per patient. Pain management will be used with fabry disease.  NSAIDS (non-steroidal anti-inflammatory drugs), analgesics and anti-convulsants can be used.  If the disease has spread to the kidneys, a kidney transplant or dialysis may be needed. Males have a life expectancy of 58.2 years, while females have a life expectancy of 75.4 years.  People with fabry disease often live into adulthood, but may have an increased risk for stroke, heart attacks, heart disease, and kidney failure.  The most common cause of death for someone with fabry disease is cardiovascular disease.  Many patients who have died from cardiovascular disease that suffered from fabry disease do receive kidney transplants.   Reference Sources: 1. Fabry Australia 2. Department of Medicine