Essay On Fabry Disease

Fabry Disease is caused by a particular build up of fat in the body, it has episodes of pain that comes with this disease. GLA Deficiency, globotriaosylceramide and hereditary dystopic lipidosis are different names for this disease. Fabry disease is estimated to affect 1 in every 55,000 males. Many more males have the defective gene, but with no symptoms. Fabry disease is a rare, inherited disease caused by the deficiency of an enzyme called alpha galactosidase A (a-GAL A). The mutated gene is carried on the mother's X chromosome, meaning there is a 50% chance she will pass it on to her sons, and a 50% risk her daughters will be carriers. Fabry disease runs in families. It can have lots of different symptoms, including pain in the hands and feet and a specific kind of rash. When you have Fabry disease, a certain type of fatty substance builds up in your body. It narrows your …show more content…
The disease is also called alpha-galactosidase-A deficiency. Fabry disease is one of several lipid storage disorders and the only X-linked lipid storage disease (where the mother carries the affected gene on the X chromosome that determines the child's gender and passes it to her son). Boys have a 50 percent chance of inheriting the disorder and her daughters have a 50 percent chance of being a carrier. Fabry disease management strategies should be tailored to the individual according to patient age and disease stage. These strategies include the use of medication to alleviate the symptoms, disease-specific treatment to delay and prevent possible serious organ damage, and adherence to standard health care measures and a healthy lifestyle. Daily prophylactic doses of neuropathic pain agents (eg, phenytoin, carbamazepine, gabapentin, or a combination of these agents) provide some degree of relief. They are effective in decreasing the frequency and severity of pain episodes or pain crises in most