Bimonthly, Established in 1959
Open access journal

Fabry disease

Fabry disease is a rare genetic disorder that affects various parts of the body, including the skin, eyes, kidneys, heart, and nervous system. It is caused by mutations in the GLA gene, which result in deficient activity of the enzyme alpha-galactosidase A. This deficiency leads to the accumulation of a specific type of fat, called globotriaosylceramide, in the body’s cells.

Patients with Fabry disease often experience a range of symptoms that can begin in childhood or adolescence. These symptoms include pain and burning sensations in the hands and feet, heat intolerance, a distinctive rash known as angiokeratoma, and cloudiness of the cornea. Over time, the disease can lead to more serious complications such as kidney damage, heart disease, and strokes.

Fabry disease is inherited in an X-linked manner, meaning the mutated gene is located on the X chromosome. This genetic pattern leads to predominantly male patients exhibiting severe symptoms, while female carriers may have milder symptoms or be asymptomatic.

Treatment for Fabry disease involves enzyme replacement therapy (ERT) which aims to supplement the deficient enzyme and reduce the accumulation of globotriaosylceramide. Additionally, supportive treatments are used to manage pain, gastrointestinal symptoms, and complications related to the heart and kidneys. Early diagnosis and treatment are crucial for managing the disease effectively and improving the quality of life for those affected.