Fabry disease is a rare inheritance disorder triggered by the less than the normal amount of alpha-galactosidase A enzyme in the body. This enzyme is needed for the breakdown of a fatty substance called globotriaosylceramide abbreviated as GL-3 or GB-3.
Improper metabolism of lipids in the body allows GL-3 to accumulate in the majority of cells within the body. This lipid buildup may damage the healthy cells and tissues and ultimately lead to a wide range of comorbidities such as kidney failure, heart attacks, and strokes at an early age. To prevent the development of kidney failure and other conditions an individual may need Fabry kidney disease ayurvedic treatment.
There is no exact cause of Fabry disease while scientists consider it to be a result of genetic mutation. The alpha-galactosidase enzyme which is present in the X-chromosome is produced because of the alterations in the gene resulting in Fabry disease. It is known that Fabry affects males mostly, albeit rarely females may also inherit the disease.
Other names of Fabry disease:
- alpha-galactosidase A deficiency
- Anderson-Fabry disease
- angiokeratoma corporis diffusum
- angiokeratoma diffuse
- ceramide trihexosidase deficiency
- Fabry’s disease
- GLA deficiency
- hereditary dystopic lipidosis
How is Fabry disease inherited?
The genetic mutation in the case of Fabry disease takes place in a person’s DNA. The condition is caused by the genetic mutation in the X chromosome, one of the two sex chromosomes in each of the cells. Sex chromosomes define the gender of the baby at the time of birth. Each parent passes the sex chromosomes to the baby where mothers can only pass the X chromosome and fathers can pass either of the X or Y chromosomes.
In males, if only one X chromosome is present, one faulted copy of the abnormal gene may cause the disorder. In the case of women who have two copies of the X chromosome, the only copy of the abnormal gene can cause less severe symptoms or may not cause any symptom at all.
Fabry disease causes severe medical conditions in females who have only one altered copy of the abnormal gene. These may include chronic pain, nervous system abnormalities, kidney failure, and so on. Since it is a genetic condition no promising solution is available in allopathic science except some life-threatening therapies. So, being a patient, you are advised to take Fabry kidney disease treatment in Ayurveda to avoid the risk of ESRD.
Symptoms
The signs and symptoms of Fabry disease appear late in life like any other kidney disease. Also, the signs appear to be less severe in females than males.
The manifestations of Fabry disease may include:
- Episodes of pain
- Burning sensation in the hands and feet
- Decreased ability to sweat
- Problems with the gastrointestinal system
- Back pain in the area around the kidneys
- Joint pain
What is the ubiquity of Fabry disease?
In men, Fabry disease has an explicit prevalence as it affects 1 in 40,000 males while in females, it is still not clear. It affects people of all ages and groups with no biased nature.
Diagnose
Fabry disease is hard to diagnose in the early stages, this is because the symptoms are too subtle and common to notice. Moreover, the symptoms affect several parts of the body at the same time. The test for Fabry disease also includes measurement of alpha-Gal A enzyme activity. With the help of this test, a doctor can examine the genetic mutation for Fabry disease in males.
If your family history suggests you could be at the risk, you may need to consult a doctor for genetic testing and physical examination.
Treatment
The treatment of Fabry disease includes enzyme replacement therapy with agalsidase-alpha or agalsidase beta to help normalize heart function. For problems in your kidneys, you may want to have Fabry kidney failure ayurvedic treatment.
Depending upon the complication different treatments can be initiated, such as:
- Phenytoin (Dilantin), carbamazepine (Tegretol), or gabapentin (Neurontin) for pain and burning sensations in hands and feet. Warfarin (Coumadin) to prevent cardioembolic strokes.
- Ayurvedic treatment for Fabry kidney disease.
- Pancrelipase (Ultrase), metoclopramide (Reglan), H2 blockers, such as Zantac, cimetidine, and others to relieve gastrointestinal related symptoms.
For hearing issues, you may need to consult an ENT specialist.
