Introduction The joint hypermobility syndrome (JHS) is a common non-inflammatory connective tissue disorder characterised by joint hyperflexibility and skin hyperelasticity. A validated 5 point hypermobility questionnaire screens for the presence or absence of JHS; formal diagnosis requires fulfilment of the Brighton criteria. Previous small cohorts demonstrate an association between the JHS and lower gastrointestinal symptoms (1), particularly alternating bowel habit with predominant constipation. The underlying mechanism for these symptoms is unknown.
Methods Retrospective observational study of patients attending a specialist colorectal physiology unit for investigation of chronic constipation. Patients completed validated lower GI symptom and 5 point hypermobility questionnaires, then underwent lower GI physiology testing. 43 patients with an established rheumatological diagnosis of JHS were compared to 146 consecutive patients who screened negative (score = 0) for JHS (Non-JHS). Demographic features, prevalence of presenting symptoms, and physiological abnormalities were compared in JHS and Non-JHS. In view of the multiple comparisons, the significance level was set at p:0.01.
Results In patients with constipation, those with JHS were younger, and females were more likely to be nulliparous. JHS patients had significantly more alternating bowel habit, infrequent bowel motions, abdominal pain, and childhood bowel problems. They were significantly more likely to require manual manoeuvres to help with rectal evacuation, but did not have an increased prevalence of other evacuatory symptoms. On physiology testing JHS patients had more rectal hyposensitivity, but were less likely to have internal (IAS) and external anal sphincter (EAS) abnormalities on ultrasound (see Table 1). There was no difference in the prevalence of pelvic dyssynergia, slow colonic transit or rectal morphological abnormalities.
Conclusion JHS patients have more severe constipation which is likely to date back to childhood, and which requires digitation. These patients are more likely to have rectal hyposensitivity but less likely to have structural or transit abnormalities to account for their symptoms. The diagnosis of JHS should be considered in young nulliparous females with a longstanding history of very infrequent bowel motions.
Disclosure of Interest None Declared
Castori, M., et al., Am J Med Genet A, 2010. 152A(3): p. 556–64.
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