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For many people with Ehlers-Danlos syndrome the journey to diagnosis will have been a long and convoluted one. Poor awareness of the condition amongst medical professionals means that it can go undiagnosed. It is common to be wrongly diagnosed with another condition first in an effort to find answers. Misdiagnoses of fibromyalgia and ME/chronic fatigue syndrome, and the label of irritable bowel syndrome when someone has digestive problems, are common. Typically people will wait years or decades for a diagnosis of EDS, if they get one at all. Yet diagnosis is very important. The Ehlers-Danlos syndromes are genetic and are passed on from parent to child in different ways according to the type in question (some follow a dominant pattern of inheritence, others recessive). A precise diagnosis gives information about the risk of passing the condition on in a family and about prognosis. Diagnosis guides proper management of the syndromes, which includes learning to avoid activities which might cause irreversible joint damage as well as unhelpful treatments such as inappropriate medication. For these reasons the prognosis is likely to be better if someone is diagnosed at a younger age. Many with EDS would also argue that diagnosis is important for psychological reasons, encouraging motivation and acceptance. Most would agree that it’s easier to tackle something when you know what you’re dealing with.
The diagnostic pathway differs according the type of EDS suspected, with a different route for hEDS/HSD to that for the rare types. This section explores how to go about getting assessed and what to expect.
Genetic testing for rare types of EDS
Author
Juliette Harris, MS.c, Ph.D, Specialist Genetic Counsellor, Ehlers-Danlos Diagnostic Service London
Summary
Juliette Harris a specialist genetic counsellor from the Ehlers-Danlos Diagnostic Service, London
How to get assessed for hEDS or HSD
Author
EDS UK
Summary
A flow chart showing how to go about getting a referral to a specialist who will be able to assess you for hypermobile Ehlers-Danlos syndrome or hypermobility spectrum disorder.