Diagnosis

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 counselling for the Ehlers-Danlos syndromes

Author
Marion McAllister, Genetic Counsellor and MRC Research Fellow, University of Manchester & Judy Tocher, Genetic Counsellor, EDS National Diagnostic Service, Sheffield Children's Hospital

Summary

The work of a genetic counsellor, how genetic counselling could benefit you and what to expect from your appointment. Includes an explanation of the ways in which the Ehlers-Danlos syndromes can be inherited, and information about the EDS National Diagnostic Service.

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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.

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How to get assessed for a rare type of EDS

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 the rare types of the Ehlers-Danlos syndromes.

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Video: Molecular genetics and vascular EDS

Presenter
Duncan Baker, Head of Pharmacogenetics, Sheffield Diagnostic Genetics Service, Sheffield Children’s Hospital

Summary

The work of the Sheffield Molecular Genetics Laboratory and how they confirm a diagnosis of vEDS.

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Video: EDS – The National Diagnostic Service and Specialist Clinic

Presenter
Dr Glenda Sobey, Consultant and Lead Clinician, EDS National Diagnostic Service, Sheffield Children's Hospital

Summary

The work of the NHS specialist service for atypical and complex cases of EDS (rare types).

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Video: The EDS diagnostic services and rarer types of EDS

Presenter
Dr Anthony Vandersteen, Clinical Geneticist, EDS National Diagnostic Service, Northwick Park and St Mark’s Hospitals, Harrow

Summary

The work of the EDS National Diagnostic Service in diagnosing rare types of EDS.

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Video: Update from the EDS National Diagnostic Service

Presenter
Dr Glenda Sobey, Consultant and Lead Clinician, EDS National Diagnostic Service, Sheffield Children's Hospital and Rebecca Pollitt, Lead Scientist, Genetics Team, Sheffield Children's Hospital

Summary

An update from the clinic dealing with complex cases and rare types of EDS.

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What is EDS?

Information sheets, how to get a diagnosis, advice for medical profesisonals......