Fabry disease is a rare genetic condition affecting about one in every 40,000 to 60,000 men worldwide. Women can also have the disease, but the prevalence is unknown, according to the National Institutes of Health.
Fabry disease is more prevalent worldwide than previously reported, and is not limited to any one particular ethnicity, said geneticists during their presentations at the 2nd International Congress on Advanced Treatments in Rare Diseases in Vienna. If data from newborn screenings are considered, the prevalence of Fabry disease would be closer to one in 3,000 to 7,000 men, they said.
Impact of genetics on prevalence
Fabry disease is caused by mutations in the GLA gene that carries the instructions to make an enzyme called alpha-galactosidase A. This enzyme is responsible for breaking down a particular type of fat called globotriaosylceramide.
The GLA gene is located on the X-chromosome, and a mutation in one copy of this gene is sufficient to cause the disease. Men have one X and one Y chromosome, while women have two X chromosomes. Therefore, men have only one copy of the GLA gene, and if it carries the mutation, they develop Fabry disease and exhibit its symptoms, which makes it easier to diagnose and report.
Women have two copies of the GLA gene, one on each X chromosome. The second healthy copy usually compensates for the mutated copy. Therefore, women may not develop symptoms of the disease as early as men, delaying their diagnosis and leading to the under-reporting of the condition.
Other factors that affect prevalence
Prevalence data for Fabry disease can be affected by many factors. For instance, certain symptoms, such as abdominal pain, nausea, diarrhea, and fatigue, are common in several other conditions. Symptoms are usually mild in the early stages of the disease, and in many cases, are late-onset. Therefore, diagnosis can be delayed, affecting the data on disease prevalence.
Geographical regions also impact genetics and hence, the manifestation of Fabry disease, with symptoms that can vary in severity and go undiagnosed. For example, a specific mutation that is associated with Fabry disease is prevalent in Taiwan, Mainland China, Vietnam, and Hong Kong. In addition, limited data about Fabry disease in Africa makes it difficult to determine the prevalence of the disease there.
Newborn genetic screening can improve prevalence information. Early diagnosis of Fabry disease in children not only aids in starting treatment sooner, but it also helps in reporting the occurrence of the disease.
Last updated: Oct. 29, 2019
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