Practicing good health, including diet and exercise, is often a lifestyle choice not considered until later in adulthood. For some adults, the need to practice health living, including diet and exercise, is the direct result of a male dominated genetic condition known as Fabry disease.
As a condition involving a deficiency of enzymes naturally occurring in the body, Fabry disease affects a man’s ability to naturally process specific chemical reactions in the body. Complications, long term, by this absence of enzyme activity, may include complications of the heart, eyes, kidneys and even the brain.
So, why are women not affected by Fabry disease? Fabry disease is a genetic disorder directly linked to the X chromosome gene known as the GLA gene. Since women carry two X chromosomes, and men carry only one, a complication of the GLA gene is exhibited in men whereas women commonly do not suffer from the complication since they are double equipped with X chromosomes. For men, since their only X chromosome carries the defective GLA gene, the symptoms of Fabry disease are seen.
As a common genetic disorder among men, Fabry disease affects approximately one in 40,000 births. Usually, a child born with Fabry disease will not initially be diagnosed with such a condition. Often, the genetic condition is not diagnosed until complications appear. Symptoms initially seen include burning in the hands and feet, cornea clouding and, even more odd, the development of a rash in the area from the belly button to the knees.
These complications are attributed to the Fabry disease tendency to create an excessive accumulation of globotriaosylceramide over time and with aging. This accumulation begins the process for symptoms to appear. By age 40, many sufferers begin to experience complications of the heart and kidneys with some men experiencing brain and neurological complications including seizure, dizziness and even stroke.
While there is no cure for Fabry disease, the condition can be managed through monitoring of the secondary complications. Frequent visits to a cardiologist, urologist and neurologist are important. As an added measure, men who suffer from Fabry disease must begin to focus on a health lifestyle including making smart dietary choices, exercising regularly and avoiding risky lifestyle choices that place that at greater risk; smoking, alcohol consumption and consumption of caffeine.
For men who suffer from pain associated with Fabry disease, the use of pain medications is quite common. In the near future, it is anticipated that medical technology will advance so as to allow men who suffer from Fabry disease to have an option to pursue enzyme replacement therapy as a form of treatment.
As with any genetic disorder, the key to optimal health outcomes lies in the early diagnosis and treatment. With Fabry disease, men must follow a healthy diet and exercise program to ensure the secondary complications of the disorder are negated as much as possible until such time as enzyme replacement therapy is approved.