The BRIGHTON Diagnostic Criteria

The BRIGHTON Diagnostic Criteria
Joint pain

March 20, 2017: The following information is now completely obsolete since the brand new nosology and diagnostic criteria for all known forms of the (now plural) Ehlers-Danlos Syndromes was  just released on March 15th, 2017, and the new diagnostic category for subclinical patients was added called Hypermobility Spectrum Disorders, or HSDs. This now catches all of those who aren’t quite “bendy” enough (as I lobbied so hard for below!) to meet the more stringent criteria for the hypermobile form of EDS (hEDS), the most common type still, and still lacking a known underlying genetic marker.

This is the first update in 20 years~! (Count em, 20!) So please be patient with yourselves and your doctors as we ALL get slowly up to speed with the new information to be found here now:

https://ehlers-danlos.com/2017-eds-international-classification/

Original (Now Obsolete) Text from October 2016

(I am leaving here for historical purposes and reference only. PLEASE SEE THE UPDATED CRITERIA IN THE LINKS ABOVE TY! JG April 2017)

As I’ve mentioned  elsewhere, it is best to see a medical geneticist whenever possible to get diagnosed with any form of Ehlers-Danlos Syndrome so as to rule out any other Heritable Disorders of Connective Tissue (especially Marfans, Sticklers and OI), and also the more rare and dangerous forms of EDS if suspected, especially Vascular.

But the most common type by far,  Hypermobile EDS or hEDS (formerly called EDS III as well as HMS, JHS and BJHS elsewhere) has no single tissue marker identified yet (except for the rare autosomal-recessive Tenascin X variant) and still must be diagnosed clinically, that is, through careful informed physical examination and thorough family history (where available) using the Brighton Diagnostic Criteria (spelled with an “r” and not to be confused with the Beighton 9 pt Hypermobility Scale spelled with an “e” which is just one misleading part of it).

The Hypermobility Syndrome Association of the UK still intends the Brighton Criteria only for diagnosing “JHS” or Joint Hypermobility Syndrome. But many leading US doctors, Dr Jaime Bravo in Chile, and leading UK rheumatologist Professor Rodney Grahame believe JHS, BJHS and HMS should all just be called hEDS now. (See “The Lack of Clinical Distinction Between…” by Tinkle, Grahame et al on p. 17 of the Autumn 2010 EDNF Loose Connections).

However, I’m posting the Brighton Diagnostic Criteria shown below from the HMSA website as they are presented nicely there to get you acquainted as they are the only generally recognized clinical method available for diagnosing HEDS at this time as far as I know.

I have italicized the seven minor criteria that do not require you to be bendy (flexible) at all (i.e, you can score a zero on the Beighton 9 pt scale even if you are under age 50!), and I’ve bolded the four which have nothing to do with your joints!  This latter is why a lot of US rheumatologists and even some geneticists still fail to diagnose us as they keep only looking for grossly bendy patients or stretchy skin which you do NOT have to have! (You can have thin skin that is soft or tears easily instead.)

Further, I’m pleased to see Hamonet at al agree with me on the inefficacy of the Beighton 9pt scale in this paper from 2015 where they state:

“A Beighton score equal to or greater than 4 is suggestive of hypermobility. However this test is often misleading or poorly applied; it considers only a small number of joints [11], it does not take into account pain or muscle contractures, and therefore wrongly rules out a large number of patients. Thus a negative score is not incompatible with a positive diagnosis, especially in adults [7]”

I developed a totally unofficial Reverse BRIGHTON Criteria slide showing them in reverse for this very reason, to help de-emphasize the hypermobility aspect that keeps tripping everyone up (both doctors and patients) that I first shared in this post about not being rare. I like to say “we got Bright in Brighton, England” to keep them straight, smile.

The Original Brighton Diagnostic Criteria (not scale!) (via the HMSA of the UK)

Revised diagnostic criteria for the Joint Hypermobility Syndrome (JHS)

Major Criteria

  • A Beighton score of 4/9 or greater (either currently or historically)
  • Arthralgia for longer than 3 months in 4 or more joints

Minor Criteria

  • A Beighton score of 1, 2 or 3/9 (0, 1, 2 or 3 if aged 50+)
  • Arthralgia (> 3 months) in one to three joints or back pain (> 3 months), spondylosis, spondylolysis/spondylolisthesis.
  • Dislocation/subluxation in more than one joint, or in one joint on more than one occasion.
  • Soft tissue rheumatism. > 3 lesions (e.g. epicondylitis, tenosynovitis, bursitis).
  • Marfanoid habitus (tall, slim, span/height ratio >1.03, upper: lower segment ratio less than 0.89, arachnodactyly [positive Steinberg/wrist signs].
  • Abnormal skin: striae, hyperextensibility, thin skin, papyraceous scarring.
  • Eye signs: drooping eyelids or myopia or antimongoloid slant. [JG – aka almond-shaped eyes]
  • Varicose veins or hernia or uterine/rectal prolapse.

JHS is diagnosed in the presence two major criteria, or one major and two minor criteria, or four minor criteria. Two minor criteria will suffice where there is an unequivocally affected first-degree relative.

JHS is excluded by presence of Marfan or Ehlers-Danlos syndromes. Criteria Major 1 and Minor 1 are mutually exclusive as are Major 2 and Minor 2.

NB italics are mine, to highlight the seven minor criteria you can still pass and use to diagnose without scoring at all on the Beighton 9 pt Hypermobility (bendy) Scale. (That is how you can be a 0 and still pass!) I also highlighted four criteria in bold that have nothing to do with your joints! If you pass any 4 minor criteria, or any 2 minor plus either major, or both major criteria you pass. (You also pass if you have a known 1st degree relative and any 2 minor criteria.) That’s a lot of ways to pass without being bendy!

Also, as stated by the HMSA rather dryly at the bottom, the first two Minor criteria are essentially a restatement of the two Major criteria, but with a much lower threshold. So they are mutually exclusive. I.e, if you pass just one of the Major criteria, you cannot also count whichever of the first two minor criteria that matches, since obviously you have already surpassed its lower threshold by passing it as a major criteria. You need to pass other non-matching minor criteria in addition to whichever major criteria you passed. (Sorry if that’s confusing, but there you are.)

I dearly hope this helps some more of you to suspect and hopefully get diagnosed with Hypermobile EDS where appropriate with the help of your doctors. I will go to my grave trying to get people to stop telling me their “number” from the Beighton 9pt scale only!

As I’ve hopefully made clear enough here, you can be a zero and still have hEDS! You don’t get a “score” from the Brighton Criteria either, you get a criteria combo (e.g. “2 major”, or “1 major and 3 minor”, or “5 minor:”), so anyone who says “but I’m just a 3” on the Beighton Hypermobility Scale only is doing it wrong.

I’ve lost track of the number of patients who’ve come to me in great distress after being  quickly dismissed by uninformed doctors who ONLY look at the Beighton 9 pt scale and not the rest of the Brighton Diagnostic Criteria and stop short and fail to diagnose them despite obvious and even life-threatening extra-articular (non-joint related) issues.

Thank you for reading this far and trying to get it right with me! I’m also going to go to my grave lobbying for a name change – they differ by only one letter! Is it any wonder everyone gets confused??~! Obviously I ultimately hope they come up with more of the tissue markers and a better naming system and soon, but meanwhile this is the best we have. You can see me attempting poorly to explain this (while in great pain) in person at our not so “mini-conference” in Oregon in 2013.

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