What is Fabry's Disease?

Fabry's disease is a relatively rare genetic condition which primarily affects males, although female carriers can sometimes have some symptoms of the disease. This condition is characterized by a deficiency in the enzyme ceramide trihexosidase, also known as alpha-galactosidase-A. In healthy patients, this enzyme helps to break down lipids in the body, and in patients with Fabry's disease, lipids build up, causing a variety of medical problems.

Symptoms of Fabry's disease usually start to appear in childhood or adolescence. The patient usually develops pain in the feet and hands, along with rashes on various areas of the body. As the condition progresses, the patient's corneas can turn cloudy, blood pressure rises, and frequent fevers start to occur. The patient eventually begins to experience kidney and cardiac problems. Death from this condition is usually a result of renal compromise or heart problems which could not be corrected.

This condition was first described in the late 1800s by Doctor Johann Fabry and Doctor William Anderson. Historically, treatment for Fabry's disease has focused on managing the symptoms with treatments such as dialysis for the kidney problems. More recently, enzyme replacement therapies were developed, allowing patients to take regular infusions of enzymes to correct the deficiency. Enzyme replacement must continue for life, however, and it can be extremely expensive, which makes it inaccessible to many patients.

Although this condition most commonly occurs in males, symptoms have been identified in women and girls who carry the gene. On occasion, women can develop symptoms as severe as those experienced by males. This trait is an X-linked recessive, meaning that it is carried on the X chromosome, and if a woman inherited the gene from both parents, as would be the case if her father had Fabry's disease and her mother was a carrier, she could develop a full-blown version of the disease.

Like many genetic conditions, Fabry's disease does not always manifest in the same way. Patients can experience symptoms of varying severity, and they may respond differently to treatments and attempts to manage the disease. Parents who have a child with Fabry's disease may want to consider getting genetic testing to learn more about the origins of the condition. Having one child with the condition does not necessarily mean that future children will also have it, although female siblings of boys with Fabry's disease may want to be tested to find out if they are carriers.