Fabry's DiseaseFabry disease (also known as Anderson - Fabry disease , Angiokeratoma corporis diffusum , Ceramide trihexosidosis , and Sweeley - Klionsky disease ) is an x linked recessive inherited lysosomal storage disease . Recent research suggests that Fabry mutations may be more frequent than previously thought in cryptogenic stroke patients, but these patients invariably had other signs of Fabry disease including proteinuria and acroparesthesias Since the gene that is altered is carried on a mother's X chromosome, her sons have a 50 percent chance of inheriting the disorder and her daughters have a 50 percent chance of being a carrier. In addition to the eye manifestations, males characteristically have burning sensations in their hands and feet that is worse with exercise and hot weather. This accumulation leads to an impairing of their proper function. Without this enzyme, glycosphingolipid molecules accumulate in certain tissues because they cannot be broken down into simpler molecules for excretion. The diagnosis of Fabry disease has considerable implications regarding treatment, management, and counseling. Specifically, physicians may be alert to the involvement of other organs besides those of the CNS and thus make early intervention possible. Early experiments have indicated that enzyme replacement may be useful. The pain in the hands and feet usually responds to anticonvulsants such as phenytoin and carbamazepine. The condition affects hemizygous males, as well as both heterozygous and homozygous females; males tend to experience the most severe clinical symptoms, while females vary from virtually no symptoms to those as serious as males. Fabry Disease is not the name you expected .Lipid storage may lead to impaired arterial circulation and increased risk of heart attack or stroke. The heart may also become enlarged and the kidneys may become progressively involved. Forty years later, it was recognized that the disease resulted from abnormal deposits of a particular fatty substance (known as globotriaosylceramide) in blood vessel walls throughout the body Without this enzyme, glycosphingolipid molecules accumulate in certain tissues because they cannot be broken down into simpler molecules for excretion. . The outer portion of the eye (cornea) may also become clouded in individuals with Fabry disease. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report . Other symptoms include decreased sweating, fever, and gastrointestinal difficulties, particularly after eating. Some female carriers may also exhibit symptoms. Fabry disease is one of several lipid storage disorders. Causes of Fabry's DiseaseThe common causes of Fabry's Disease :-
Symptoms of Fabry's DiseasesSome are common symptoms of Fabry's Diseases :-
Treatment of Fabry's Diseases
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