We have a Fabry disease misdiagnosis, what now?
What is Fabry disease?
Fabry disease is the result of mutations in the GLA gene. This mutation causes an affected individual’s body not to produce an enzyme known as a-galactosidase A, or it prevents this enzyme from working properly. This then leads to a build-up of glycosphingolipids in the body’s cells, which damages different parts of the body, triggering the many symptoms of the syndrome.
Symptoms of Fabry generally appear in later childhood, from around ten years of age. However, many patients do not report any symptoms until adulthood. As a multisystem disorder, the disease may affect the hearing and ears, skin, neuropathic systems, gastrointestinal system, kidneys, heart, and brain of affected individuals.
Why is Fabry disease so commonly misdiagnosed?
- Fabry disease is a multi-system condition. The symptoms and features of the syndrome overlap with those of other diseases and conditions, making a Fabry disease misdiagnosis more common than it should be in affected patients. There are very few symptoms if any, that can be identified as unique to Fabry. However, one of the earliest identifying symptoms may be episodic pain, dark red spots on the skin, and an inability to sweat.
- Fabry disease progresses differently in affected individuals. Symptoms do not progress at the same rate in everyone, making it tricky to diagnose, and making a Fabry disease misdiagnosis more likely. This also leads to delayed diagnosis- with the mean length of time between symptoms appearing and a diagnosis is 13.7 years in males and 16.3 years in females (Beck M. In: Mehta A et al. editors. Fabry disease: perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis Ltd; 2006; Chapter 16).
How do we get the right diagnosis?
The right diagnosis for Fabry disease may require extensive genetic testing. However, understanding if this is necessary and if symptoms similar to those for the syndrome are indeed evidence of Fabry, the initial step towards a correct diagnosis can begin with genetic analysis.
FDNA’s telegenetics AI platform has been developed to provide a faster and more accurate analysis for Fabry disease, other genetic syndromes, and rare diseases. Shortening diagnostic journeys and reducing the rate of misdiagnosis in the rare disease field is the platform’s aim. It also connects patients to the essential genetic counseling, and genetic testing, that will make a misdiagnosis a thing of the past.