Fabry disease is a genetic disorder related to a deficiency of enzymes that break down fat in the body. It is characterised by the accumulation of fatty molecules in blood vessels and vital organs like the heart, kidneys, skin, and central nervous system. People with Fabry disease inherit an abnormal or mutated GAL gene on their X chromosome. As a genetic disorder, Fabry disease does not have a cure. However, it can be managed with proper diagnosis and treatment.
What are the Treatments for Fabry Disease?
Fabry disease can be categorised as a classic type or a late-onset disease based on when the first symptom appears. There is no cure for Fabry disease, but healthcare providers will initiate the following treatment plan based on the patient's symptoms.
The treatment of Fabry disease includes:
Enzyme replacement therapy: Fabry disease is caused by a deficiency of the enzyme called alpha-galactosidase. In enzyme replacement therapy, the replenishment of enzymes slows down the build-up of fatty substances and prevents damage to organs like the heart, kidney, and brain. For this therapy, agalsidase beta and pegunigalsidase alfa are two lab-made enzymes similar to alpha-galactosidase available in the market. These enzymes are infused intravenously.
Oral chaperone therapy: This therapy is given based on the type of mutation present in the patient. The chaperone comprises small molecules that stabilise the faulty enzyme and help it work better. For this therapy, a pill called migalstat is prescribed for patients. The affected persons need to take this pill on alternate days to stabilise the functioning of the defective enzyme.
Apart from these therapies, healthcare providers may also prescribe:
- Drugs to relieve pain caused by nerve damage.
- Medicines for gastric symptoms like gastroparesis (paralysis of stomach muscles).
- Blood thinners for heart-related problems due to the build-up of fatty molecules in the blood vessels.
- Blood pressure medicines.
Conclusion
Fabry disease is an X-linked genetic disorder in which the body does not produce an enzyme that breaks down fatty molecules. This results in the build-up of fatty substances in the blood. Although there is no cure for Fabry disease, enzyme replacement therapy and chaperones are two treatment options available to manage this condition. If you are a victim of Fabry disease, it is better to have a health insurance policy to cover treatment costs for this rare disorder.
Disclaimer: The information provided in this blog is for educational and informational purposes only. It is not intended as a substitute for professional advice, diagnosis or treatment. Please consult a certified medical and/or nutrition professional for any questions. Relying on any information provided in this blog is solely at your own risk, and ICICI Lombard is not responsible for any effects or consequences resulting from the use of the information shared.