Anderson-Fabry disease is a rare inherited disorder characterized by the accumulation of a fatty substance called globotriaosylceramide (GL-3) within various cells of the body. This buildup of GL-3 primarily affects small blood vessels, especially those in the skin, kidneys, heart, and nervous system. The disease is caused by mutations in the GLA gene, which provides instructions for producing an enzyme called alpha-galactosidase A. This enzyme is responsible for breaking down GL-3, and mutations in the GLA gene result in its reduced activity or complete absence.
Symptoms of Anderson-Fabry disease usually appear in childhood or adolescence and can vary widely among affected individuals. Common signs include episodes of pain and heat sensitivity mainly in the extremities, such as the hands and feet. Other manifestations include skin rashes (angiokeratomas), cloudy vision, hearing loss, gastrointestinal problems, kidney dysfunction, and cardiovascular disease. Due to the progressive nature of the disease, individuals with Anderson-Fabry disease may also experience complications such as heart attacks or strokes.
Diagnosis of Anderson-Fabry disease involves a combination of clinical evaluation, genetic testing, and the measurement of alpha-galactosidase A enzyme activity. Treatment options focus on managing and alleviating symptoms. Enzyme replacement therapy, which involves regular administration of synthetic alpha-galactosidase A, has shown effectiveness in reducing GL-3 accumulation and improving symptoms. Additional therapies may include medications to manage pain and complications, as well as lifestyle modifications.
Anderson-Fabry disease is a chronic condition that requires lifelong management and monitoring. Regular follow-ups with healthcare professionals specialized in this disorder are crucial for optimal care and support.
