Fabryziekte

Fabryziekte is a rare genetic disorder that affects multiple organs, including the skin, kidneys, heart, and nervous system. It is caused by a deficiency in an enzyme called alpha-galactosidase A, which is responsible for breaking down a fatty substance called globotriaosylceramide (Gb3). When this enzyme is lacking, Gb3 builds up in the body's cells, leading to various health problems.

The symptoms of Fabryziekte can vary widely in severity and age of onset. Some individuals may experience mild symptoms that appear in adulthood, while others can have severe symptoms that manifest in childhood. Common signs include burning pain in the hands and feet, reduced sweating, fatigue, gastrointestinal problems, and characteristic skin lesions called angiokeratomas. Over time, the buildup of Gb3 can lead to serious complications such as kidney failure, heart disease, stroke, and hearing loss.

Fabryziekte is inherited in an X-linked recessive pattern, meaning it is more commonly seen in males, but females can also be affected, though often with milder symptoms. Diagnosis is typically made through enzyme activity tests and genetic testing. While there is no cure for Fabryziekte, enzyme replacement therapy (ERT) is available to help manage symptoms and slow the progression of the disease. Other treatments focus on managing specific complications. Research is ongoing to develop more effective therapies.