People often ask me, “How is EDS diagnosed?”
Here’s a pretty simple explanation: EDS or Ehlers-Danlos Syndrome is usually diagnosed by a geneticist or through the genetics department of a large hospital. However, not all geneticists or genetics departments are up-to-date on the latest criteria for diagnosing EDS. An EDS diagnosis used to require a skin biopsy, but now can be done through a clinical assessment in-office, called the Beighton Score and/or the Brighton Criteria when an individual scores lower on the Beighton Score.
In 1997, a nosology was written at the Villefranche International Conference that refined the types of EDS into the current six major types. Each type has a set of major diagnostic criteria and of minor diagnostic criteria. Traditional diagnosis of EDS consists of family history and clinical evaluation to assess the diagnostic criteria. Genetic testing is available for most types of EDS, although not for the most common type, Hypermobility. The tests vary in accuracy; in most instances genetic testing should be used conservatively to confirm an EDS type diagnosis rather than to rule one out.
To learn more about the EDS Nosology, please visit: http://www.ednf.org/nosology.
Last, The Ehlers-Danlos National Foundation has announced an International Symposium scheduled for May 2016. EDNF’s goal for this symposium is to reclassify the diagnostic criteria for all the types of Ehlers-Danlos syndrome, as well as will put together guidelines for medical professionals to use once a diagnosis has been reached as a universal guide for the management of EDS. To learn more about the International Symposium, go here: EDNF International Symposium on EDS.