Fabry Disease: Treatment, Procedure, Cost and Side Effects

Fabry disease is referred to by many names. Some of the most common ones are Alpha- galactosidase A deficiency, GLA deficiency, Hereditary dystopic lipidosis and Anderson-Fabry disease. Fabry disease is a genetic disorder that occurs as a result of deficiency of an enzyme known as alpha-galactosidase A. This enzyme is instrumental in the build-up of a fat known as globotriaosylceramide within the body. It is a rare disease. The disease has a widespread effect on various parts of the body such as heart, kidney, brain, gastrointestinal system and also the nervous system. Fabry disease is considered to a kind of lysosomal storage disorder. Enzymes are contained within lysosomes which are isolated pockets of cells. When there is a lysosomal storage malfunction the enzymes contained within don’t metabolize the fatty molecules. The fatty molecules that remain undigested start accumulating and impairing the ability of the cell to function properly.

This disease is likely to affect people between 30 to 45 years of age. In the Fabry disease, the malfunctioning gene is usually placed on the X-chromosome. The x-chromosome is a sex chromosome that can be received either from the mother or the father. The Fabry disease is most commonly seen to affect males. Females who end up inheriting the malfunctioning X-chromosome are known as carriers. They can pass the mutated gene on to the male child.

Detecting Fabry disease can be an extremely difficult business because the symptom for this disorder tends to overlaps with those that can also be present in many more health conditions. The symptoms of Fabry disease can start to show up throughout the span of a person’s life one by one. A prior knowledge of the history Fabry disease in the family can be beneficial to the doctor when it comes to the treatment. The symptoms of type 1 include trouble with seeing, cloudiness of cornea, cerebrovascular disorder, cardiovascular, kidney disorder and stomach problems.

The symptoms of Fabry disease in males include lowered ability to sweat, pain in limbs such as hands and feet and skin allergies such as rash.

On correct detection of the disease a chromosomal analysis may be carried out by the doctor because it will give more accurate results than the blood test. A blood test is difficult to decipher because of sudden inactivation of the X-chromosome.

The main purpose behind a fabry disease treatment is to control or prevent the symptoms from showing up. Patients who go through frequent and adverse episodes of the painful symptoms that are associated will be prescribed anticonvulsants. An enzyme replacement therapy (ERT) may be prescribed to replace the absent alpha- galactosidase A enzyme.

The side effects of enzyme replacement therapy medications include nausea, diarrhoea and abdominal discomfort. The side effects of anticonvulsant medications may include drowsiness, trembling, nausea, skin rash, rapid weight gain and fatigue.

A strip of anticonvulsant can range anywhere between Rs. 10 to Rs. 200. The price of enzyme replacement therapy medications can cost you somewhere between Rs. 1000 to Rs. 2000. And lastly, the price of a Chromosomal Analysis DNA test can cost about Rs 9,500 in India.