What is Fabry Disease?
Fabry disease is brought by deficiency or failure of the enzyme required metabolizing lipids, a fat-like substance that involves oils, fatty acids and waxes. The enzyme is called ceramide trihexosidase, also known as alpha-galactosidase-A. A gene mutation that controls this enzyme brings the deficiency in the breakdown of lipids, which accumulate to dangerous levels in the kidneys, autonomic nervous system, eyes, and cardiovascular system. For the reason that the mutated gene is transmitted on an X chromosome, her sons have a 50% probability of having the Fabry disease and her daughters have a 50% probability of being a carrier.
Fabry Disease Symptoms
Several women who have the mutated gene may experience symptoms of the disease. Symptoms normally start during childhood or adolescence and involve:
- Burning feeling in the hands that are aggravated with exercise and hot weather
- small, elevated, reddish-purple blemishes seen on the skin
Some men will also suffer eye symptoms, particularly a cloudy cornea. Storage of lipid may result to impaired circulation of the artery and a greater possibility to have heart attack or stroke. Also, heart enlargement and kidney impairment may also happen.
Other symptoms involve:
- Less sweating
- Fever
- Gastrointestinal problems especially after eating
Fabry Disease Causes
Fabry disease is brought about by an abrupt gene mutation. The gene that mutates is the one responsible for lipids breakdown. This gene affects an enzyme known as alpha-galactosidase A or ceramide trihexosidase.
The failure in the gene results to the lack of the enzyme. Therefore, the fats are not broken down and build up in the body’s tissues like nerve tissues, eyes, kidneys and heart.
The gene that causes fabry disease is only present on the X chromosome. Therefore, women have 50% possibility of becoming a carrier while men will have 50% possibility of having the disease.
Fabry Disease Diagnosis
The diagnosis of fabry disease will be based on the child’s symptom. A skin sample through biopsy can be obtained and assessed under the microscope. Unusual number of fat in the skin cells can signify Fabry disease.
Fabry Disease Treatment
Replacement of enzymes may be helpful in reducing the progress of Fabry disease. The pain felt in the hands and feet typically relieved by the use of anticonvulsants like phenytoin and carbamazepine. Gastrointestinal problems may be relieved by taking metoclopramide. Several patients may need dialysis or kidney transplant because of the kidney impairment brought by the disease.