Case of the Month #30: Pain and Hypermobility

Joint hypermobility is common in the general population and may be present with no complications, especially in children.¹ Generalised joint hypermobility, impacting four or more joints, has been reported to be present in between 12% and 28% of children, adolescents and young adults and is more common in females.^1,2 Joint hypermobility is a description rather than a diagnosis and is used to define a joint that exceeds its normal range of motion, taking into account age, sex and race.^3,4 Hypermobility is predominantly determined by the tightness or laxity of ligaments, which in turn, is influenced by genetics, involving the connective tissue genes collagen, elastin, and fibrillin.⁴ Heritable Connective Tissue Disorders (HCTD) like the Ehlers–Danlos Syndromes (EDS), Marfan Syndrome, and Osteogenesis Imperfecta, can result in systemic ligamentous laxity.⁵

Ehlers–Danlos syndromes (EDS) represents a group of 13 different but related heritable connective tissue disorders that have in common joint and skin manifestations. In 2017, the EDS International Consortium proposed the 2017 International Classification for the EDSs, recognising 13 subtypes of EDS with major and minor diagnostic criteria outlined for each subtype.⁶ The hypermobile subtype of Ehlers-Danlos syndrome (hEDS) is the most common type of EDS and involves generalised joint hypermobility, musculoskeletal manifestations, and skin involvement along with the presence of several comorbid conditions. The full detail of the diagnostic criteria can be found in the refence section (Ref 6), and more information can be found in the "Recommended Reading for August 2023" section. 

Hypermobility spectrum disorders (HSD) are a group of connective tissue disorders that involve a spectrum ranging from asymptomatic hypermobility or hypermobility affecting only one joint, to generalised joint hypermobility, subluxations, and dislocations. Patients with symptomatic joint hypermobility that do not meet the criteria for hEDS are often diagnosed as HSD, like the patient in this case report. For patients with HSD, the term "spectrum" is used to highlight the variety of phenotypic patterns of disease presentations that can arise in this group, but it is not intended to suggest a scale of severity of symptoms.³

Patients with clinical manifestations suggestive of HSD or hEDS should undergo a diagnostic evaluation, including degree of joint hypermobility on physical examination, using the Beighton Score (BS). This a set of manoeuvres in a nine-point scoring system, was originally developed as an epidemiological tool used in screening large populations for Generalised Joint Hypermobility (GJH) but has since been adopted as a clinical tool for diagnostic purposes.⁵ 

The major clinical features of both HSD and hEDS include symptoms and findings related to the musculoskeletal changes, including joint hypermobility. In hEDS, there is also fragility of skin and supportive connective tissues and some features common to other hereditary disorders of connective tissue (HDCT). Other systemic features, including chronic widespread pain, fatigue, autonomic dysfunction, and gastrointestinal dysmotility, are often present in patients with HSD or hEDS, with signs and symptoms of varying degrees and combinations. Musculoskeletal manifestations may include recurrent joint sprains and ligament and tendon injuries and episodes of recurrent joint instability, including subluxations (incomplete dislocation) or dislocations. There may be mechanical pain related to biomechanical differences, especially in the lower limbs and complex widespread musculoskeletal pain with evidence of central sensitisation. A significant number of patients with fibromyalgia have joint hypermobility.^7,8 An increased sensitivity to pain/generalised hyperalgesia, has also been reported in hEDS and HSD.⁹

Most people with joint hypermobility alone do not experience any problems from the condition and will generally not require any treatment. The management of patients with HSD or hEDS should be individualised, based upon the patient's symptoms and clinical findings. Management options may include patient education and guidance in self-management, physiotherapy and occupational therapy. Patients with more complex symptoms, for example, widespread pain, anxiety and depression and fatigue may benefit from multidisciplinary team input to consider medication, exercise, and psychosocial therapies. 

For details on current treatment approaches and further reading, please see the references below and the "Recommending Reading for August 2023” section of FPMLearning.