General Information About Fabry Disease
Disease Details and Frequently Asked Questions
It is an inherited disease where the body cannot produce the enzyme needed to break down a fat molecule called 'GL-3' (sphingolipid) inside the cell, causing these waste products to accumulate in blood vessel walls and clog organs.
It is passed down linked to the X chromosome. Therefore, while men experience all the symptoms and severe forms of the disease, women are generally carriers or have a milder form of the disease.
Symptoms in childhood include severe burning pains in the hands and feet that come in crises (especially after stress, fever, and exercise), lack of sweating, and small red/dark skin spots (angiokeratomas) appearing around the navel and knees.
The accumulated fat molecules slowly clog the capillaries of the kidneys, leading to kidney failure requiring dialysis; thicken the heart, leading to heart attacks; and clog the brain's blood vessels, leading to stroke (paralysis) at a young age.
In men, finding the 'alpha-galactosidase A' enzyme level in the blood close to zero confirms the diagnosis. Because enzyme levels can appear normal in women, a definitive diagnosis is made with Genetic (GLA gene mutation) tests.
To halt the progression of the disease, the enzyme the body cannot produce is regularly administered to the patient intravenously (Enzyme Replacement Therapy - ERT). Additionally, new-generation oral chaperone drugs that prevent accumulation are also used.
Our health library contents are prepared for informational purposes only and with scientific data available at the time of recording. For all your questions, concerns, diagnosis, or treatment regarding your health, please consult your doctor or a healthcare institution.
