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Fabry's Disease

Fabry 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 Disease

The common causes of Fabry's Disease :-

  • Proximal renal tubular acidosis
  • Hypertension systemic
  • Mitral valve incompetence
  • Fabry disease, the absence of GALA causes this fatty substance to accumulate in the blood and blood vessel walls.
  • Eventually, the decreased blood flow leads to problems of the skin, kidneys, heart, and nervous system.

Symptoms of Fabry's Diseases

Some are common symptoms of Fabry's Diseases :-

  • Kidney problems, often requiring dialysis or transplant
  • Pain and burning sensations in the hands and feet, often provoked by exercise and hot weather
  • Spotted dark red skin rash that occurs from the belly button to the knees
  • Burning sensations in hands and feet - worse with exercise and hot weather
  • Frequent bowel movements shortly after eating

Treatment of Fabry's Diseases

  • Pain relief - for hand and feet pain
  • Metoclopramide
  • The labeling for agalsidase beta states that the product is for use in patients with Fabry's disease to reduce deposits of GL-3 in the capillary endothelium of the kidney and certain other types of cells.
  • This topic reviews the prognosis of untreated Fabry disease, and the trials of enzyme replacement therapy in Fabry disease and outcomes on renal replacement therapy, and provides recommendations for treatment.
  • Treatment with Fabrazyme may improve signs and symptoms of Fabry disease; however, the relationship between GL-3 reduction and specific signs and symptoms has not been established. In order to benefit from the treatment, patients need to receive regular infusions.


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