The case for renaming Hypermobility Syndrome

Hypermobility of joints (JHM) is not a disease. It is a feature of joints in which the range of movement at the joint is more than expected or normal. It can arise from many factors, genetic and acquired.

What is knows as the hypermobility syndrome has hypermobility of certain joints (defined by the Beighton score) as a component feature when the person is young. As the person grows older and joints become stiff, they may no longer have the “hypermobility of joints” as a clinical diagnostic indicator.

There is a growing group of experts that thinks that the names like BJHS, JHS, HMS, HS, etc should be replaced by the name Ehlers-Danlos Syndrome Hypermobility Type.

The hypermobility of the joints per se is not responsible for most of the musculoskeletal symptoms (only joint damage as a result of hyperextension is due to the hypermobility of the joints) and the myriad multisystemic manifestations. The defective connective tissue, arising from defect in the genetic code for collagens and possibly other proteins is responsible for the problems in the multiple bodily systems. The defect in the genetic coding for collagen in this condition is thought to result in an altered ratio of the different subtypes of collagen.

 

Many experts believe that there is a lack of clinical distinction between JHS and H-EDS and both are the variable expressions of the same disease [1].

The manifestations and severity of H-EDS/JHS can differ from patient to patient. There is no fixed set or severity of symptoms that can describe H-EDS/JHS. However, typically when there are few or mild symptoms, the person is diagnosed as Benign Joint Hypermobility Syndrome. When the same disease process leads to much severe course of disease with multisystem manifestations and recurrent dislocations of joints (partial or total), the person is likely to receive a diagnosis of Ehlers Danlos Syndrome Hypermobility Type (H-EDS or EDS-HT). There is a wide disparity between the accepted prevalence rates of H-EDS and JHM. It is likely that H-EDS patients are one of the extreme ends of this spectrum and there is a large pool of undiagnosed and untreated patients of this disease who have an intermediate range of severity.

Joint hypermobility syndrome immediately conjures up a prejudiced/ assumptive image of :

a “benign” disease (mentally related to JHM), 
consisting only of “flexible” joints, 
and
without “serious” complications or implications

 

This is a complete fallacy. 

Patients with H-EDS, in fact:

have considerable morbidity (proportion of sickness),
may not have hypermobility of joints,
and 
may have many serious complications. 
As Prof. Bravo writes in his article,

 Furthermore, and very important, when we speak of Joint Hypermobility Syndrome we do not give the subject the importance it deserves, since, at a glance, it implies a good condition to have, rather than a disease with frequent complications. This has brought us to conclude that the name that we have been using, diverts the awareness of this disease, and is the reason for the lack of interest by physicians and poor understanding of this disease by patients and public in general.

Often the H-EDS/JHS patient has a variety of seemingly unrelated multisystemic complaints and the clinical signs are not pronounced. There are no confirmatory laboratory or genetic tests that can diagnose H-EDS. Thus this condition remains sereiously underdiagnosed causing damaging impact on the patients’ lives. The patient suffers from a variety of health problems and yet goes through life being dismissed by doctors. relatives and friends. The chronic pain, fatigue, and other neurological features lead to disability and yet the patient receives no long-term relief or management or support.

Therefore, to increase the awareness regarding H-EDS/JHS, there are two essential and interrelated steps:

1. Shift the attention of the clinical picture of just musculoskeletal and skin involvement to the actual chronology of symptom development, transition and evolution of this multisystemic disorder [2]. 


2. Rename Joint Hypermobility Syndrome to Ehlers Danlos Syndrome Hypermobility Type. 


 

References:

1. Tinkle, Brad T., et al. “The lack of clinical distinction between the hypermobility type of Ehlers-Danlos syndrome and the joint hypermobility syndrome (aka hypermobility syndrome).” Am J Med Genet A 149.11 (2009): 2368-70.

PDF 

2. Castori, Marco, et al. “Re‐writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type.” American Journal of Medical Genetics Part A 161.12 (2013): 2989-3004.

PDF 

3. Read the interesting story of how there came to be two different names for this disease and how the work on two developed divergently in the same city, creating this chasm, here:

Grahame, Rodney. “Joint hypermobility: emerging disease or illness behaviour?.” Clinical Medicine 13.Suppl 6 (2013): s50-s52.
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About Hypermobility Syndrome India/Viv

I an an Indian woman with Ehlers Danlos Syndrome Hypermobility Type (EDS-HT), also known as joint hypermobility syndrome. Although I have "suffered" from this disease all my life, I was diagnosed at 38 years, 2 years after my child was born. My work mainly involves being a mom to my beautiful and compassionate child. I also write and work from home in the field of science. I aim to raise awareness about EDS-HT, chronic pain, invisible illnesses, mental illnesses and invisible disabilities through my blogs. Viv (Latin root, meaning Life/ Alive) is my blogging pseudonym and alludes to my continued endeavor to rediscover my life and its meaning.
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