If you're wondering what is Fabry disease, you're not alone. Most of us are not familiar with the ailment. Fabry disease is a rare genetic disorder of enzymes that can break fats into fatty acids that can be absorbed by the bloodstream. Therefore, fat deposition increases in the body and slowly gets deposited in the tissue, increasing the risk of heart and kidney failure and also a brain stroke. Some treatment options include enzyme replacement, which helps slow the disease's progression and reduces the risk of organ failure. The other method is Oral Chaperone Therapy, which works on the mutated genes and brings stability to the body.
What is the Meaning of Fabry Disease?
It is a genetic disorder that needs to be treated with care. Fabry disease meaning refers to an enzyme known as alpha-galactosidase, commonly known as A (alpha-GAL). This is not adequately produced to break down the fat cells in the body. Sphingolipids need alpha-GAL to break down fats so that they can be absorbed in the bloodstream. However, the lipid may get deposited in the tissues and blood vessels in its absence.
Two kinds of Fabry disease are commonly found. The classical type of the disease can be seen in teenagers, and symptoms manifest as a burning sensation in the feet and hands. Sometimes, the symptoms also start appearing in children when they are at the age of two. The second type of Fabry disease, known as late-onset or atypical, is usually seen in young adults who are in their thirties and older.
A classic case of Fabry disease usually affects 1 in 40,000 males and those assigned male at birth (AMAB), while the atypical form can be seen in 1 out of every 1500 to 4000 men and AMAB. There is no clarity on how many women and those assigned female at birth (AFAB) have this ailment. In some cases, the symptoms are usually absent, mild, or hard to identify. This is also the reason why the disease remains undiagnosed in women to a large extent.
Research shows that male parents pass on this disease to their daughters genetically, which causes gene mutations; the sons are not at risk in this case. Female parents are also carriers; however, the chances of them passing the disease are 50%.
This ailment is also known by the name Anderson-Fabry disease, and scientifically, it is called alpha-galactosidase-A deficiency disease. Since this disorder has severe consequences, a health insurance policy can help a person avail of timely diagnosis and the best treatment available. Do check with your insurer whether this ailment is covered, as coverage for rare diseases like Fabry disease varies between insurers.
Conclusion
A comprehensive health insurance policy can help you tide over medical exigencies. Remember to compare various plans and the scope of coverage before finalising one that meets your requirements and budget. Talk to your insurer to know whether rare diseases and disorders are covered in your policy to avoid unpleasant surprises when making a claim.
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.