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Fabry Disease is a rare X-linked inherited lysosomal storage condition caused by mutations in the GLA gene. This leads to a lack of the enzyme alpha-galactosidase A. This enzyme usually breaks down a fatty molecule known as globotriaosylceramide (GL-3 or Gb3). When there isn't enough of it, GL-3 builds up in cells over time, hurting the kidneys, heart, neurological system, and skin.

The first signs of the disease usually show up in infancy or adolescence. These include scorching pain in the hands and feet (acroparesthesia), not being able to stand the heat, less sweating, and angiokeratomas (skin sores). As the disease progresses, it might result in renal impairment, cardiac hypertrophy, arrhythmias, and cerebrovascular accident. Men are usually more seriously afflicted, but women may have lesser or different symptoms because of randomX-chromosome inactivation.

Enzyme activity measurements and genetic testing validate the diagnosis. Early diagnosis is crucial since Fabry Disease that isn't treated might lead to kidney disease or heart problems. Treatment consists of enzyme replacement therapy (ERT) to restore alpha-galactosidase A activity and chaperone therapy for certain mutations. Supportive care's goal is to manage pain, blood pressure, and organ involvement to improve the quality of life and survival of those who are affected.