Causes of Fabry Disease

Fabry disease is a genetic disorder caused by an alteration in a gene that codes for the alpha-galactosidase (alpha-GAL) enzyme. Patients with GLA gene mutations either have little enzyme activity or do not produce alpha-GAL, essential for breaking down sphingolipids and preventing the accumulation of fatty molecules in the blood and vital organs. The accumulation of fatty molecules in the blood vessels affects the heart, kidneys, skin, and central nervous system. The classic form of Fabry disease occurs at a young age, while late-onset Fabry disease occurs after 30 years of age.

What are the Causes of Fabry disease?

The causes of Fabry disease have genetic roots, and the time of expression of symptoms depends on the amount of enzyme activity present in the body. Mutations in the GLA gene, which result in an alteration in the structure and function of alpha-GAL, cause Fabry disease. Symptoms of the disease include heart enlargement, arrhythmias, heart attack, kidney failure, nerve damage, and brain stroke. Understanding the causes of Fabry syndrome helps in better management of the condition.

Characteristics of Fabry disease:

• Fabry disease is a genetic disease/disorder caused by the alteration in the GLA gene.
• The GLA gene provides instructions for the production of alpha-GAL, an enzyme present in the lysosome.
• Mutation in the gene alters the structure and functioning of the alpha-GAL enzyme, which prevents it from breaking down fatty substances.
• The build-up of fatty substances in the blood occurs and leads to damage to vital organs like the kidneys, heart, skin, and brain.
• The gene of Fabry disease resides on the X-chromosome, making it an X-linked disorder.
• Fabry disease affects males more. This is because males have only one X chromosome.
• Females have two X chromosomes; therefore, women with only one defective gene may show symptoms but do not experience full-blown disease.
• For testing the disease, gene targeting testing and genomic testing can be done.
• These molecular tests, as well as the treatment costs of the disease, can be covered by having a health insurance policy for rare diseases.

Conclusion

People with Fabry disease either lack alpha-GAL or have very little enzyme. Alpha-GAL is important for the breakdown of fatty molecules. Without this enzyme, fatty molecules build up in blood vessels and organs and damage them. Fabry disease is passed from parents to children. If you are experiencing symptoms as described above, you must seek immediate consultation with a healthcare provider. It is also advisable to avail a health insurance plan to cover the costs associated with the Fabry disease.

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.