Fabry Disease

What is Fabry disease?

Fabry disease is an inherited disorder caused by the buildup of a particular type of fat (lipid) in the body's cells. This buildup results in pain, particularly in the hands and feet; clusters of small, dark red spots (angiokeratomas) on the skin; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (the cornea); and hearing loss. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. Milder forms of the disorder may appear later in life and affect the heart or kidneys only.

How common is Fabry disease?

This condition affects an estimated 1 in 40,000 to 117,000 live births. Milder forms of the disorder may be more common.

What genes are related to Fabry disease?

Mutations in the GLA gene cause Fabry disease.

The GLA gene makes an enzyme called alpha-galactosidase A. This enzyme is active in lysosomes, which are structures that serve as the cell's recycling center. The enzyme normally breaks down a molecule called globotriaosylceramide. Mutations in the GLA gene prevent alpha-galactosidase A from breaking down globotriaosylceramide, allowing it to build up in the body's cells. Over time, this buildup damages cells throughout the body, particularly blood vessels in the skin and cells in the kidneys, heart, and nervous system.

GLA mutations that result in an absence of alpha-galactosidase A activity lead to the typically severe features of Fabry disease. Mutations that decrease but do not eliminate the enzyme's activity usually cause the milder, late-onset forms of Fabry disease that affect only the heart or kidneys.

How do people inherit Fabry disease?

This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome) one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes) a mutation typically must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

In many cases, females with one altered copy of the GLA gene may have mild signs and symptoms related to Fabry disease. Some women with one altered copy of the gene never have any features of the disorder, however, while other women experience severe medical problems such as heart attack, stroke, and kidney failure.

What other names do people use for Fabry disease?

  • Alpha-galactosidase A deficiency
  • Anderson-Fabry Disease
  • Angiokeratoma Corporis Diffusum
  • Angiokeratoma diffuse
  • Ceramide trihexosidase deficiency
  • Fabry's Disease
  • GLA deficiency
  • Hereditary dystopic lipidosis

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