What Are the Cures of Fabry's Disease?

According to medicinenet.com, "Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids." The gene which controls the enzyme ceramide trihexosidase is mutated and causes it to not breakdown lipids. These lipids can build up and can be harmful to the eyes, cardiovascular system, kidneys and nervous system, explains medicinenet.com. Boys have fifty percent chance of inheriting the disorder, while girls have a fifty percent chance of carrying it. As of now there is no cure, but there are some possible treatments.

Symptoms

• Some, but not all women who have the mutated gene, will develop symptoms early in childhood. Medicinenet.com states that these include burning sensations in the hands that increase when exercising in hot weather, and "small, raised reddish-purple blemishes on the skin." Other symptoms include a decrease in sweating, high fever and stomach problems. As one gets older, the disease then starts to effect the eyes, nervous system, cardiovascular system and especially the kidneys.

Therapeutic options

• Fabry disease cannot be cured at present, but there are therapeutic options that can help. Frank Breunig and Christoph Wanner, from the Department of Medicine, Division of Nephrology, University of Würzburg in Würzburg, Germany, state that chronic pain therapy is an option for patients including membrane stabilizers such as gabapentin, carbamazepine and phenytoin. There are also drugs available that can slow the progression of kidney failure. According to Breunig and Wanner, cardiovascular therapy may require "implanting pace-makers, anti-arrhythmic medication and coronary-artery bypass grafting." Heart transplants have also been successful in late stage cases of Fabry disease.

Enzyme Replacement

• Enzyme replacement has shown to be effective in slowing the progression of Fabry Disease. "Anticonvulsants such as phenytoin (Dilantin) and carbamazepine (Tegretol, Tegretol XR, Equetro, Carbatrol)," have helped to ease the pain in the hands and feet of those who suffer from the disease, states medicinenet.com. Breunig and Wanner explain that enzyme replacement is safe. In clinical trials, enzyme replacement helped to stabilize kidney function and lessen neuropathic pain. It also helped with cardiovascular problems, state Breunig and Wanner.

Expert Insight

• Enzyme replacement may not be for everyone. Though studies have shown positive effects, more research needs to be done according to Breunig and Wanner. Breunig and Wanner explain that longer periods of treatments will be needed for those with advanced organ damage before any improvement or stabilization occurs. They also state that "there may be a point in the process of organ damage beyond which Enzyme Replacement Therapy cannot reverse existing tissue damage or delay organ failure in the short term." This means that early detection of the disease is critical.

Potential

• Research for cures continue each day. Since this is a rare disease, it is difficult to gather large numbers of patients for clinical studies. Breunig and Wanner explain that Enzyme Replacement Therapy may be only effective for short periods of time. The challenge will be to find options that are long term. According to Breunig and Wanner, researchers are trying to conclude whether or not it is possible to reverse organ damage or if their goal should be to simply prevent any future organ damage. However Breunig and Wanner are optimistic: "Additional treatment options in the future may include gene therapy and substrate synthesis inhibition, perhaps in combination with ERT [which could be of great help]."