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Fabry disease affects the body in several ways. It is caused by a defective gene which means that the body does not have enough of certain enzymes (proteins) to break down fatty substances. Therefore, fat builds up in the body and can cause a variety of symptoms. These symptoms may include pain in the hands and feet, digestive problems, stroke, heart and kidney disease, among other medical problems. Because the symptoms are very specific and the disease is very rare, often misdiagnosed as other conditions. Although symptoms appear in early childhood, the correct diagnosis of the disease is often not the case until the person is under 25's or 35's. Unfortunately, at present, more severe effects that may have set in, including heart and kidney damage, including lupus, multiple sclerosis, chronic fatigue syndrome, and arthritis.
However, early diagnosis and treatment with enzyme replacement therapy can help slow or stop the progression. Therefore, it is important to visit your doctor if you are showing symptoms and especially if you have a family history of Fabry disease. Without treatment, symptoms in adolescence and adulthood become worse and lead to stroke, heart disease, and kidney failure. Early treatment with enzyme replacement therapy can help stop the progression of the disease. Fabry disease is diagnosed with a simple blood test. Fabry disease can be treated with enzyme replacement therapy, however, begin early treatment is the key. In men who hit women and symptoms worsening over time. Children with the disorder typically suffer from leg and arm pain, digestive problems, decreased sweating, overheating, and rash.
If you are diagnosed with the disorder, consult your physician to determine what steps to take to minimize the symptoms and slow the progression of the disease. Enzyme replacement therapy available to replace missing enzymes that cause Fabry problems. In addition to enzyme replacement therapy, other medications used to treat the symptoms of the disease. Protein in the urine can be treated with a category of drugs called inhibitors and pain and burning sensation in the arms and legs can be treated with anticonvulsants. Gastrointestinal problems can be treated with metroclopramide. Given low-dose aspirin to reduce the risk of stroke.