Fabry's disease

Fabry's Disease is a rare genetic disorder, resulting from the buildup of a particular type of fat, known as globotriaosylceramide, in the body's cells. It is one of several lysosomal storage diseases and is also known as Anderson-Fabry disease, angiokeratoma corporis diffusum, and alpha-galactosidase A deficiency.

Causes

Fabry's Disease is caused by mutations in the GLA gene, which provides instructions for producing an enzyme called alpha-galactosidase A. This enzyme plays a crucial role in the body's cells, breaking down a specific type of fat called globotriaosylceramide. When mutations in the GLA gene disrupt the function of this enzyme, globotriaosylceramide accumulates in the cells, leading to the symptoms of Fabry's disease.

Symptoms

The symptoms of Fabry's Disease can vary widely among affected individuals. Some people may have severe symptoms, while others may have mild symptoms or none at all. Common symptoms include pain, particularly in the hands and feet; clusters of small, dark red spots on the skin; decreased sweating; and problems with the gastrointestinal system, kidneys, heart, and brain.

Diagnosis

Diagnosis of Fabry's Disease typically involves a review of the patient's medical history, a physical examination, and specific laboratory tests. These tests may include a blood test to measure the level of alpha-galactosidase A enzyme activity, genetic testing to identify mutations in the GLA gene, and a kidney biopsy to look for globotriaosylceramide accumulation.

Treatment

Treatment for Fabry's Disease is primarily aimed at managing symptoms and preventing complications. This may include pain management, treatment for gastrointestinal problems, and measures to protect kidney function. Enzyme replacement therapy (ERT), which involves infusing a recombinant form of the alpha-galactosidase A enzyme into the bloodstream, is also a common treatment option.

See also

• Lysosomal storage disease
• GLA gene
• Enzyme replacement therapy