Fabry Disease
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Fabry disease is a kind of genetic ailment that derives its name from Johannes Fabry. It is alternatively called Sweeley-Klionsky disease and Anderson-Fabry disease in the medical fraternity. This is an exceptional genetic condition that impacts the human body’s capability to dissolve some types of lipids or fats.

This in turn can lead to some symptoms in the afflicted person’s body and he gets burning feeling in his feet and hand. It can also lead to more severe consequences like cardiac disorders. Fabry disease is an ailment which needs proper medical intervention as unless that is taken it can cause a medical emergency.

Causes of Fabry Disease

Fabry disease is classified in the clinical terminology as a lipid storage disorder caused by a defective gene which regulates an enzyme named alpha-galactosidase A. This enzyme is responsible for the dissolving of some fats in the human body. When there is a deficiency in the body of this particular enzyme, some lipid molecules named glycosphingolipids start accumulating in the tissues. To be more specific, the fat modules start building up in the afflicted person’s vital organs like kidneys, heart and eyes.

The gene that becomes modified in this disease stays on the X chromosome hence the transmission is always X-linked. Therefore, the women have 50% possibility of acting as a carrier of the gene where as men have equal chance of inheriting the disease. However, women are also affected by Fabry disease though the rate of infection is lower than men.

Symptoms of Fabry Disease

The symptoms of this disorder depend on large extent to the affected person’s nature of enzyme deficiency. If an afflicted person suffers from extreme levels of enzyme scarcity then he or she may develop the symptoms from adolescence or even childhood. If the level of deficiency is less then the victims may show the signs in their mature years.

The most prevalent symptom of this disorder is the feeling of burning and pain, particularly in the feet and hands of the victim’s body. This sensation of pain can become severe during fever.

Such a person can also develop raised abrasions with a reddish hue on the skin. These lesions are called angiokeratomas. They are more likely to appear on body parts like buttocks, thighs, groin and lower abdomen. The capacity of the affected people to sweat also takes a nosedive. The cornea as well as the lens in the victim’s eye may become cloudy thus hampering his/her vision.

In some instances of this ailment, the patients can also face strokes, heart attacks and kidney failures. Many people suffering from the disease have to face kidney related problems later which sometimes lead to renal failure. The person may develop cardiac complications when the fat modules start piling up in various sections of the heart. Naturally the heart ailments deteriorate with age and may finally result in heart failure.

The main problem with the disease is that many doctors are not aware about it and they mistake its symptoms as those of some other ailment. The symptoms of the disease may start appearing from one’s early years but with time the intensity grows. Sometimes the symptoms appearing in early childhood can be hard to diagnose.

Treatment of Fabry disease

Unfortunately, there is no specific remedy for Fabry disease but in recent times; enzyme replacement is recommended by the doctors. Since the disease causes severe pain to the patients, they are advised to take suitable medication for it. Some patients with a malfunctioning or damaged kidney may require a kidney transplant.

The drugs used in the enzyme replacement therapy are quite expensive and hence most of the patients suffering from the disease can not opt for it. It should be kept in mind that this therapy is not the equivalent of a remedy and also requires to be applied with caution. In some instances, tiny molecules are employed to cut down lipid production in cells.

The recent advancements made in the study of genetic science seem promising and a solution may come up in the near future for Fabry disease.

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