Joint Hypermobility Syndrome is a connective tissue disorder characterized by overly elastic skin and “loose joints” that bend too much (joint hyperflexibility)1. It is a fairly common condition (it may be present in as many as 15% of the population) that has genetic underpinnings and runs in families, but it is generally benign and typically goes undiagnosed because in many people it does not produce any troublesome symptoms (this should not be confused with a more serious but rare condition with somewhat similar connective tissue abnormalities, called Ehlers-Danlos Syndrome). Because the joints are so loose in people with Joint Hypermobility Syndrome, those individuals are prone to joint dislocations, sprains and painful strain around their joints. When symptoms do occur, these are therefore often pain in joints – fingers, elbows, knees and fingers. In recent years, a couple of studies in the United Kingdom have indicated that gastrointestinal symptoms are associated with this syndrome. One study found that patients with this connective tissue syndrome had greater constipation and rectal evacuation problems than other people2, and another found higher than expected prevalence of this syndrome in a retrospective survey of patients with unexplained GI symptoms who had been seen in a neurogastroenterology clinic3.

Yesterday, Sunday May 19, the same team of researchers from the United Kingdom who published those previous observations presented a new well-designed study at Digestive Disease Week 2013 in Orlando that gives a clearer and more definite picture of the association of Joint Hypermobility Syndrome with gastrointestinal problems. They evaluated 694 newly referred patients in a row who were coming to gastroenterology (GI) clinics, and used the so-called Brighton Diagnostic Criteria to assess whether they had Joint Hypermobility Syndrome. They also evaluated 92 patients in other clinics coming for non-GI problems for comparison. After the GI patients had been evaluated and diagnosed by the GI doctors they were seeing, the researchers compared the prevalence of Joint Hypermobility Syndrome in patients with functional GI disorders, organic GI disorders (like inflammatory bowel disease or cancer), and in the non-GI control patients. They excluded GI patients who were diagnosed with reflux disease (GERD) from analysis for a clearer picture, as GERD can be considered a mixture of functional and organic disease.

The results were interesting and thought-provoking. The rate of Joint Hypermobility Syndrome was significantly higher in patients who GI doctors diagnosed as having functional GI disorders (40.5%) than in either patients found to have organic GI disease (26.9%) or non-GI comparison patients (25%). This strongly suggests that a subset of patients who are seen by gastroenterologists and diagnosed as having functional GI disorders like IBS or functional dyspepsia actually have a verifiable organic problem – a connective tissue abnormality – that either contributes significantly to their symptoms or might even cause them altogether, in which case they are really being mis-classified as functional GI patients. These very interesting results from a well-designed study definitely warrant future examination in research on functional GI patients in my opinion, especially since the Brighton Diagnostic Criteria can be easily incorporated in questionnaire evaluation of these patients.

So how do you know if you have Joint Hypermobility Syndrome? Some signs of it are1 (1) that you are (or ever have been able to) put your palms flat on the floor standing up with your legs straight; (2) that you can (or ever could) touch your forearm with your thumb (on the same side, of course!); (3) have been known to be “double jointed” or able to contort yourself into unusual shapes to amuse and amaze your friends, or (4) often dislocated your joints as a child. And if you are a professional contortionist, it’s probably a fairly sure bet that you have this syndrome!

Presentation:

Asma Fikree, Rubina Aktar, Lucy E. Glasgow, Katherine V. Gillespie, Adam D. Farmer, Rodney Grahame, Joan K. Morris, Charles H. Knowles, Qasim Aziz. The Association Between Functional Gastrointestinal Disorders and the Joint Hypermobility Syndrome – Connective Tissue Is the Missing Link! Wingate Institute of Neurogastroenterology; Blizard Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary University London, London, United Kingdom; National Centre for Bowel Research and Surgical Innovation, Blizard Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary University London, London, United Kingdom; Wolfson Institute of Preventive Medicine, Barts and the London School of Medicine and Dentistry, Queen Mary University London, London, United Kingdom; Rheumatology, University College Hospital, London, United Kingdom; Gastroenterology, Shrewsbury and Telford NHS Trust, London, United Kingdom

References:

1. Simpson MR. J Am Osteopath Assoc September 1, 2006 vol. 106 no. 9 531-536. Available in full online here: http://www.jaoa.org/content/106/9/531.full

2. Mohammed SD, Lunniss PJ, Zarate N, Farmer AD, Grahame R, Aziz Q, Scott SM.

Joint hypermobility and rectal evacuatory dysfunction: an etiological link in

abnormal connective tissue? Neurogastroenterol Motil. 2010 Oct;22(10):1085-e283.

doi: 10.1111/j.1365-2982.2010.01562.x. Epub 2010 Jul 5. PubMed PMID: 20618831.

3. Zarate N, Farmer AD, Grahame R, Mohammed SD, Knowles CH, Scott SM, Aziz Q.

Unexplained gastrointestinal symptoms and joint hypermobility: is connective

tissue the missing link? Neurogastroenterol Motil. 2010 Mar;22(3):252-e78. doi:

10.1111/j.1365-2982.2009.01421.x. Epub 2009 Oct 15. PubMed PMID: 19840271.