Living with joint hypermobility syndrome. Patient experiences of diagnosis, referral and self-care

Abstract

Background. Musculoskeletal problems are common reasons for seeking primary health care. It has been suggested that many people with 'everyday' non-inflammatory musculoskeletal problems may have undiagnosed joint hypermobility syndrome (JHS), a complex multi-systemic condition. JHS is characterized by joint laxity, pain, fatigue and a wide range of other symptoms. Physiotherapy is usually the preferred treatment option for JHS, although diagnosis can be difficult. The lived experience of those with JHS requires investigation. Objective. The aim of the study was to examine patients' lived experience of JHS, their views and experiences of JHS diagnosis and management. Methods. Focus groups in four locations in the UK were convened, involving 25 participants with a prior diagnosis of JHS. The focus groups were audio recorded, fully transcribed and analysed using the constant comparative method to inductively derive a thematic account of the data. Results. Pain, fatigue, proprioception difficulties and repeated cycles of injury were among the most challenging features of living with JHS. Participants perceived a lack of awareness of JHS from health professionals and more widely in society and described how diagnosis and access to appropriate health-care services was often slow and convoluted. Education for patients and health professionals was considered to be essential. Conclusions. Timely diagnosis, raising awareness and access to health professionals who understand JHS may be particularly instrumental in helping to ameliorate symptoms and help patients to self-manage their condition. Physiotherapists and other health professionals should receive training to provide biopsychosocial support for people with this condition.

The evidence‐based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome

“…The outcome of surgical and physical therapy treatment is largely disappointing, which illustrates the need for a stronger evidence base [Rombaut et al, ]. Education for health professionals [Billings et al, ; Rombaut et al, ; Terry et al, ; Lyell et al, ; Russek et al, ] is paramount in order to optimize physical therapy provision. A recent feasibility study of a six session package of treatment demonstrates future potential [Palmer et al, ,] and further research is required to explore the specific therapeutic actions of physical therapy for managing JHS/hEDS.…”

“…The reported prevalence of JHS/hEDS in adult physical therapy outpatient musculoskeletal settings has been reported to be between 30% [Connelly et al, ] and 55% [Clarke and Simmonds, ]. Despite the relatively high incidence of JHS/hEDS, recent research has found that many physical therapists and other clinicians are not familiar with the diagnostic criteria, prevalence, or common clinical presentation of affected individuals [Billings et al, ; Lyell et al, ; Russek et al, ], whereas clinicians also experience a lack of awareness of this condition [Billings et al, ; Rombaut et al, ; Terry et al, ; Lyell et al, ]. This guideline aims to provide physical therapists and other clinicians with the state of the art regarding the assessment and management of children, adolescents, and adults with JHS/hEDS.…”

Síndrome da hipermobilidade articular em jovem

“…The main purposes of treatment are symptomatic control and improvement of functional capacity. The patients should be taught to deal with the disease by modifying their activities, with self-care activities, preventing trauma by limiting the amplitude of movements, correcting posture and performing oriented physical exercise to muscle strengthening and joint stability, avoiding pain and articular wear [1][2][3]8 .These patients need to be managed for his JHS, as a multisystemic disease, and not for an individual symptom, as pain 13 . The use of analgesics and NSAIDs are generally ineffective and orthopedic surgery should be avoided 10 .…”

Keeping a Flexible Differential Diagnosis: an Exercise in Clinical Reasoning

“…14,15 Accordingly, patients with JH may experience frustrating delays in diagnosis or misdiagnosis, lengthy diagnostic evaluations focused on isolated symptoms, and an overall poor understanding of their disorder among clinicians. 12,16 & The Ehlers-Danlos syndromes (EDS) represent a group of quintessential inherited connective tissue disorders that characteristically include prominent JH. EDS subtypes are categorized further by their clinical features and associated genetic markers.…”