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Fabry's Disease - Symptoms and Treatment

Fabry's Disease is a fat storage disorder caused by a deficiency of an enzyme involved in the biodegradation of lipids. This causes certain lipid molecules, called glycosphingolipids, to accumulate in the body's tissues, particularly the heart, kidneys and nerve tissue. The gene for this disorder is on the X-chromosome, so only the mother needs to be a carrier to produce an affected child. Her sons have a 50 percent chance of having the condition, and her daughters have a 50 percent change of being a carrier. Some of the female carriers exhibit signs of the condition, especially cloudiness of the cornea. In addition to the eye manifestations, males characteristically have burning sensations in their hands and feet that is worse with exercise and hot weather. Most of the males have small, raised, reddish-purple blemishes on their skin. In patients with Fabry disease, the a-gal A enzyme is either partially or completely inactive. As a result, CTH builds up in the cells throughout the body, particularly in the walls of blood vessels. As this build-up continues over many years, the blood vessels become more narrow and therefore reduce the flow of blood, nutrients and oxygen in the body. This may become a major problem in parts of the body that depend on small blood vessels, since these vessels can become completely blocked by the deposits of CTH. The areas that are most affected by the closing of the small blood vessels are the kidneys, heart, nervous system and skin.

Fabry's disease is a genetic disorder related to the lack of an enzyme needed for normal metabolism. The disease causes the enzyme to collect in many tissues. The disorder belongs to a group of diseases known as lysosomal storage disorders. Lysosomes function as the primary digestive units within cells. Enzymes within lysosomes break down or digest particular nutrients, such as certain fats and carbohydrates. Low levels or inactivity of the alpha-galactosidase A enzyme leads to the abnormal accumulation of a substance consisting of fatty material and carbohydrates (i.e., glycolipids such as glycosphingolipid) in various organs of the body, particularly blood vessels and the eyes. Symptoms of Fabry disease may include the appearance of clusters of wart-like discolorations on the skin (angiokeratomas), abdominal pain, and/or visual impairment. Later in the course of the disease, kidney failure, heart irregularities, and/or progressive neurological abnormalities may cause serious complications. Fabry disease, which is inherited as an X-linked recessive trait, primarily affects males. A milder form of the disease has been identified in females.

Causes of Fabry disease

Common causes and risk factor's of Fabry disease include the following :

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

Symptoms of Fabry disease

Some common Symptoms of Fabry disease :

  • Inability to sweat
  • Fatigue.
  • Fever .
  • Abdominal discomfort.
  • Back pain.
  • Frequent bowel movements shortly after eating.
  • Kidney problems, often requiring dialysis or transplant.

Treatment of Fabry disease

  • Metoclopramide .
  • Pain relief - for hand and feet pain
  • 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.
  • 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.



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