Fabry disease occurs when the body does not produce enough alpha-galactosidase A (alpha-GAL) levels. This enzyme is vital for breaking down fat-like substances and preventing them from accumulating in the blood. Fabry disease is a rare inherited disorder and a type of lysosomal storage disorder. It occurs when a person carries an abnormal copy of the GLA gene on the X chromosome. Therefore, in males who have one faulty gene, the disease occurs in full-blown form.
What are the types of Fabry disease?
In Fabry disease, loss of alpha-GAL activity leads to the accumulation of harmful levels of sphingolipids in the blood, which can damage organs and cause serious symptoms.
There are two types of Fabry disease -- classical and late-onset.
Classic Fabry disease: It occurs when a patient has less than 3% of the enzyme activity left and the fatty molecule builds up in most tissues at a very young age. In this type of Fabry disease, symptoms are very severe and appear first during childhood or adolescence. Symptoms include burning pain in the hands and feet, reddish or dark blue spots on the skin in clusters, decreased ability to sweat, and gastrointestinal problems. Symptoms become worse with age and lead to severe heart problems, progressive kidney damage, and stroke.
Late-onset Fabry disease: This type of Fabry disease has a higher level (3–15%) of alpha-GAL activity. Therefore, patients have some leftover activity to break down sphingolipids. Fatty molecules build up at a much slower rate in such patients; therefore, symptoms of the disease do not appear until 30 years or later. People suffering from this type of Fabry disease also experience heart, kidney, or brain damage.
The Fabry syndrome types are categorised based on the age at which the first symptom of the disease occurs and the enzyme activity present. A cure for Fabry disease does not exist yet. However, it can be managed through enzyme replacement therapies and chaperone therapy.
Conclusion
In Fabry disease, the body lacks or has low activity of the enzyme alpha-GAL. Alpha-Gal prevents the accumulation of fatty molecules in the blood. In classic forms of disease, patients lack or have less than 3% enzyme activity, and disease symptoms first appear during childhood or adolescence. In late-onset disease, due to some residual enzyme activity, the accumulation of fatty molecules is slow, and the disease occurs after 30 years of age. To bear the expense of treating this disease, you should invest in a health insurance policy that covers the treatment of rare diseases.
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