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Fabry Disease – Causes and Symptoms of Fabry Disease

Fabry disease is an inherited disorder of fat storage. It is caused by a deficiency of an enzyme that is involved in the breakdown of fats. The condition results in pain in the hands and feet, formation of dark red spots on the skin, decreased ability to sweat and hearing problem. It may also lead to life threatening conditions.

The condition is known to affect about 1 in 40,000 to 117,000 individuals. The most common is the milder form of the disease. This disease is also known by other names such as angiokeratoma corporis diffusum, ander-son fabry disease, ceramide trihexosidase deficiency, hereditary dystopic lipidosis.

Causes of Fabry Disease

Fabry disease is caused by a sudden change of a gene which is responsible for the breakdown of fats. This gene controls an enzyme called alpha-galactosidase A, also known as ceramide trihexosidase.

The defect in the gene leads to deficiency of the enzyme. Hence, the fat molecules are not broken down and accumulated in the body’s tissues such as nerve tissues, eyes, kidneys and heart.

The gene responsible for the fabry disease is present on the X chromosome. So, females have 50% chance of becoming a carrier and males have 50% chance of inheriting the disease.

Symptoms of Fabry Disease

Symptoms of Fabry disease develop during childhood or adolescence. The symptoms also depend on the level of enzyme deficiency in the individual. The symptoms are:

  • Pain and burning sensations in hands and feet
  • Back pain
  • Discomfort in abdomen
  • Decreased blood flow leading to heart and kidney problems
  • Decreased ability to perspire
  • Cloudiness of the cornea of eye
  • Small, raised red spots on the skin
  • In severe cases, blood vessels of heart are affected

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