The Brighton Diagnostic Criteria for Ehlers-Danlos syndrome (EDS)
In the last 1990’s, the 1997 Nosology outlined new diagnostic criteria for all Ehlers-Danlos Syndromes. As a result, The Brighton Criteria for Ehlers-Danlos was developed as a revision to the previously described types of Ehlers-Danlos Syndromes. EDS categorization went from types to using names such as EDS Hypermobility Type instead of EDS Type 3. The Brighton Diagnostic Criteria is outlined below; however it is important to note that the Beighton Score is still used as a quick first-line tool to assess joint hypermobility, as well as is included in the Brighton Diagnostic Criteria. The Beighton Score is still used as the main assessment in children according to the Hypermobility Syndromes Association’s page on the Brighton Criteria.
This graphic gives examples of joint hypermobility that are used in the Beighton Score, as well as additional examples of joint hypermobility and symptoms associated with Ehlers-Danlos Syndromes. Many times, connective tissue disorders have overlapping symptoms, which is why proper genetic consult is necessary.
With the Beighton Score, a score of 4 or higher out of 9, is considered to be a good indication of hypermobility syndrome or Ehlers-Danlos Syndrome Hypermobility type. However, as stated above, the Beighton Score is just a resource for quick assessment of joint hypermobility and is not the sole criteria for a proper diagnosis, nor does it rule it out either.
As stated above, geneticists first will use the Beighton Score as an initial assessment for joint hypermobility, but will also utilize The Brighton Criteria to include other minor and major criteria for proper diagnosis. The Brighton Criteria is especially useful for individuals who score lower on the Beighton Score but have distinct signs and symptoms characteristic of Ehlers-Danlos or other connective tissue disorders.
How the Brighton Criteria hypermobility due to Ehlers-Danlos Syndrome is assessed:
According to EDS UK’s website, “it is not necessary to have multi-systemic or dermatological involvement to be given a diagnosis of EDS-HT.”
Patients must meet one combination of the following:
– Two major criteria
– One major and two minor criteria
– Four minor criteria
– Two minor criteria and a first-degree relative (parent/child/sibling) who has been diagnosed with EDS-HT.
– Beighton score ≥ 4 (if there has been an injury or surgery affecting range of movement, this can be considered historically)
– Arthralgia (joint pain) in ≥ 4 joints for ≥ 3 months.
– Beighton scores 1-3 (or 0-3 if over 50 years)
– Arthralgia in 1-3 joints for ≥ three months
– Back pain, spondylosis (spinal arthritis) or spondylolisthesis (spinal subluxation) for ≥ three months
– Dislocating/Subluxation (partial dislocation) > one joint, or the same joint more than once.
– ≥ three soft tissue injuries, tenosynovitis (inflammation of sheath around tendons) or bursitis (inflammation of the fluid-filled sac in a joint)
– Marfanoid Habitus; a characteristic appearance including being tall and slim and having long, thin fingers.
– Thin, stretchy skin or abnormal scarring (cigarette paper scarring or easily scarring)
– Droopy eyelids, short-sightedness, double vision.
– Varicose Veins (particularly at a young age)
– Rectal or uterine prolapse
Additionally, EDS UK’s website also makes this additional comment:
“since the formulation of the Brighton Criteria, it has been recognised that there are other characteristic features of EDS-HT, most notably Intestinal Dysmotility and Autonomic Dysfunction. At present these are not included in the diagnostic criteria. However, it may be beneficial to take these factors into account in some patients.”
Similarly, both the Beighton Score and Brighton Criteria do not account for symptoms and conditions associated with Mast Cell Activations Disorders that have been increasingly noted as a distinct comorbid condition to EDS in many patients. To read more about the signs and symptoms of EDS, go here.
Usually, people seek a geneticist or call the genetics clinic of a larger institution for proper diagnosis. If you scored higher on the Beighton Score or you can answer questions that fit the major and minor diagnostic criteria for the Brighton Criteria, and you are interested in seeking medical care for a proper diagnosis, you can go here to read more.
***AUTHOR NOTE: The diagnostic criteria for all types of Ehlers-Danlos syndrome (EDS) were discussed at the EDS 2016 International Symposium. Reclassification of all types of EDS, in addition to a set of recognized and accepted set of universal guidelines for all medical professionals to follow on the proper diagnosis and care of individuals with EDS, was planned. Details, including research publications, will not be released until 2017.***
– EDNF’s page on the 1997 EDS Nosology
– EDS UK’s page on the Beighton Score
– EDS UK’s page on the Brighton Criteria
– EDS UK’s page on genetic testing