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Fabry disease

Fabry disease is a rare genetic disorder that results from a deficiency of the enzyme alpha-galactosidase A (α-GAL A). This enzyme is crucial for breaking down specific fats in the body, particularly globotriaosylceramide (Gb3). When α-GAL A is deficient or absent, Gb3 accumulates in various body tissues, leading to a range of symptoms and potentially severe complications.

The condition is inherited in an X-linked manner, meaning the gene responsible for the disease (GLA) is located on the X chromosome. Because males (XY) have only one X chromosome, they are more frequently and severely affected by the disease than females (XX), who may have a second normal copy of the gene to compensate for the faulty one.

Symptoms and Complications: Fabry disease can affect many parts of the body, including the skin, heart, kidneys, and nervous system. Common symptoms include pain in the hands and feet, small dark red spots on the skin (angiokeratomas), decreased sweating (hypohidrosis), and problems with the gastrointestinal system. More serious complications can involve progressive kidney damage, heart disease, and stroke, which can significantly affect life expectancy.

Diagnosis and Treatment: Diagnosis of Fabry disease typically involves measuring the activity of the α-GAL A enzyme and genetic testing to identify mutations in the GLA gene. Treatment options include enzyme replacement therapy (ERT), which involves regular infusions of a synthetic version of α-GAL A to replace the deficient enzyme. Another approach is chaperone therapy, which aims to stabilize the body’s own dysfunctional enzyme to make it more effective. These treatments can help manage symptoms and prevent some of the long-term complications of the disease.

Management of Fabry disease requires a multidisciplinary approach to address the various organ systems that the disease can affect. Early diagnosis and intervention are crucial for improving outcomes and quality of life for patients with Fabry disease.