Ehlers–Danlos syndrome (hEDS), or Hypermobility Spectrum Disorder are common but frequently under-diagnosed conditions affecting both females and males (but are more common in females). They are heritable genetic non-inflammatory connective tissue disorders, with the prevalence amongst children estimated at between 5 and 18%. There are variations in incidence associated with ethnicity, reducing with age (Peterson et al. 2018). According to this same paper, “both conditions are characterised by excessive joint range of motion and the presence of musculoskeletal symptoms, and are associated with joint instability, motion incoordination, decreased joint position sense, and musculoskeletal pain”.
Hyperextensibility of the skin is also a common feature. Fatigue and headache, while commonly reported are not yet considered diagnostic criteria (Castori et al. 2013). The aetiology of Hypermobility Spectrum Disorder and hEDS is thought to be associated with abnormalities of fibrous protein genes that encode collagen, elastin and fibrillin (Fatoye et al. 2011).
Interestingly, there is a huge range of “extra-articular” manifestations of these conditions potentially affecting the cardiovascular, ANS, gastrointestinal, vascular, ocular, gynecologic, neurologic, and psychological realms.
These may include postural tachycardia syndrome, fibromyalgia, urinary instability and anxiety disorders. With respect to the range of GI expressions of hEDS and Hypermobility Spectrum Disorder, everything from intestinal/abdominal vessel rupture to abdominal/diaphragmatic hernias, internal organ/pelvic prolapses, intestinal intussusceptions, postprandial symptoms, abdominal pain, nausea, dysphagia, gastro-oesophageal reflux, dyspepsia, recurrent abdominal pain, constipation and diarrhoea can occur in isolation or as a combination of symptoms.
Remain vigilant and assess your clientele thoroughly so you don’t miss important indicators of these insidious conditions. Remember, both hEDS and Hypermobility Spectrum Disorder go undetected in the majority of these individuals, and their emotional and physical wellbeing is at risk as quality of life deteriorates.