Fabry disease

Fabry Disease is a rare genetic disease where an enzyme critical to the processing of certain types of fat are not produced. As such, these fats accumulate throughout the body, interfering with the normal functioning of many organs, such as the kidneys and heart. An individual with one good gene and one defective gene will not develop the disease. However, as the gene is carried on the X-chromosome, a male has a 50-50 chance of developing the disease if the mother carries the gene, but a female will not contract the disease unless both the mother and father have the gene and she inherits the defective copy from the mother. 
As the disease's symptoms are common and non-specific, Fabry is a zebra diagnosis. It is usually misdiagnosed as something else. The disease usually presents in childhood, with the symptoms getting progressively worse as the patient ages. Tests of the level of the relevant enzyme can be helpful, but can be normal in female patients. There is a genetic test for the disease that is definitive.
The disease is not curable, but is treatable with drugs that replace the missing enzyme. Patients generally have to come in for an intravenous infusion about every two weeks. However, at present, treatment is very expensive - about $250,000 per year for a typical patient. In addition, drug therapies to manage the symptoms can also be helpful.
Category:Genetics