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
Is there anything being done to prevent this? I am sure that it would be hard to prevent, but are they doing research on it to help? Would there be a way to mutate the chromosomes so they did not carry the gene for this horrible disease?
Wonderful article. I am a carrier for fabry disease. I do not have any sons, but have two daughters. I would love to try for another baby but often worry that it will be a boy and he will have fabry disease. Obviously no matter what, I would love him unconditionally. I just would not want to see my child have to suffer though with pain. My father had the disease. I have seen what it does to a a person. Sadly his kidneys did fail him, when he was only in his mid 50s. He lived a great life, but I can not help but think that he should be here now with us to watch his two grand babies grow up.
How soon after one is born do they know if they have fabry disease? Is this a test that they perform in the hospital for anyone that is born? Or do you have to ask for it? Or do they only test if you are a carrier? If they do not test for it, how does one know that they have the disease until the side effects and symptoms show up?
My brother has fabry disease. He is 22 years old. He has the painful burning on his hands and feet. He does not do well with extreme temperature changes and has found that working out does make it worse, which is really sad because when he was a teen he loved to work out in the school weight room. But he has come to terms with the disease and plans on living a life to the fullest. He knows that he does not have as much time on the earth as he should and has vowed to make this life count. He limits the stress in his life, and has a carefree attitude, which I feel does him good. Granted, he still does take excellent care of himself. Regular doctors appointments, he gets enough sleep so he is not run down feeling. He keeps his hands and feet in check with anticonvulsants, which do help out his pain quite a bit he says.
I am appalled at how much the treatment for this is. Surely, there has got to be a better way or a more cost effective way. A life is priceless…I do agree to that. But there are very few people that can afford this kind of treatment for fabry disease. And even if you have good insurance, you will still have to pay a chuck of it yourself. I know that if I were to have this disease, I would not be able to afford the treatment. And the worst thing is it does not even cure the disease. It just slows down the prognosis and reverse some of the symptoms. You would think that with a treatment costing that much, it could at least cure the disease!