Fabry’s disease is a rare genetic disease which is caused by the deficiency of the alpha-galactosidase A enzyme. This enzyme is known as a glycoprotein which hydrolyzes (breaks apart the bonds) from glycolipids (fats) and glycoproteins found in complex sugars. In a person with Fabry’s, there is a deficiency of this enzyme that causes a buildup of globotriaosylceramide (Gb3) in the body. It is the second most prevalent lysosomal storage disorder in which the enzymes do not properly metabolize the buildup of fat. As a result, the fat accumulates and inhibits a cell’s ability to function. Fabry disease can affect the function of the skin, eyes, GI (gastrointestinal) system, kidney, heart, brain and nervous system. Fabry disease is X-linked inherited meaning that if a mother is carrying the defective gene for Fabry disease, both male and female children have a 50% chance of inheriting the gene. If the father is carrying the gene, the female will inherit it because the father passes along the X chromosome but the male children will not because they receive the Y chromosome.
There are a multitude of signs and symptoms which may include burning sensations, small, dark red spots on the skin, decreased ability to sweat, cloudiness of the front part of the eye, problems with the GI system, tinnitus (ringing in the ears), hearing loss, mitral valve prolapse, carpal tunnel syndrome, joint pain, back pain as well as other symptoms. Left ventricular hypertrophy may also accompany Fabry disease. However, LVH may be indistinguishable from HCM due to gene mutations which cause the echocardiograms to look similar. Fabry disease accounts for 2-4% of all HCM, diagnosed as nonobstructive with mild to moderate hypertrophy.
Fabry’s is a progressive disorder, and symptoms will affect other organs when the patients are ages 30-45 years. It usually affects 1 in 40,000-60,000 males. In worst case scenarios, the life expectancy of males with Fabry disease is about 58 years and woman is a little over 75 years. However, with proper treatment and therapies, these numbers can increase.
There is no cure yet for Fabry’s however, there are treatments available. Fabry disease may be treated using enzyme replacement therapy (ERT) to help normalize heart and kidney function as well as blood supply to vital organs such as the brain. This therapy focuses on replacing the deficient enzyme. Other treatments are available including phenytoin (Dilantin), carbamazepine (Tegretol), or gabapentin (Neurontin) which may help prevent episodes of pain burning sensations. Opioids may also be prescribed in order to alleviate severe pain. Aspirin may be prescribed to prevent recurrent ischemic strokes. Warfarin (Coumadin) may be prescribed for cardioembolic strokes. There is a chance that the patient with Fabry disease has kidney failure in which hemodialysis and kidney transplantation may be necessary. In addition to medications, patients should eat a balanced diet and avoid smoking.
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