INFORMATION ON FABRY’S DISEASE

Fabry’s disease is an inborn disorder caused by the buildup of a special type of fat (lipid) in the body's cells. This buildup outcome in pain, particularly in the hands and feet; bunch 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 injury, heart attack, and stroke. Milder forms of the disorder may appear later in life and influence the heart or kidneys only.

CAUSES OF FABRY’S DISEASE

This condition is inborn in an X-linked recessive pattern. A situation 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 distorted copy of the gene in each cell is adequate to cause the condition. In females (who have two X chromosomes) a mutation usually must be present in both copies of the gene to cause the disorder. Males are exaggerated by X-linked recessive disorders much more frequently than females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked characters to their sons.

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

SYMPTOMS OF FABRY’S 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 all over 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 usually severe features of Fabry disease. Mutations that decrease but do not remove the enzyme's activity usually cause the milder, late-onset forms of Fabry disease that affect only the heart or kidneys.

TREATMENT OF FABRY’S DISEASE

Enzyme substitution may be effective in slowing the progression of the disease. The pain in the hands and feet generally responds to anticonvulsants such as phenytoin and carbamazepine. Gastrointestinal hyperactivity may be treated with metoclopramide. Some persons may require dialysis or kidney transplantation.