Joint hypermobility

Joint hypermobility is an area of neglect in rheumatology. That is not to say it is overlooked by rheumatologists. It is spotted when sought, but for many unfortunate patients, here the story ends. The act of recognition becomes the goal in itself rather than the medium through which effective therapy can be provided. This chapter serves to reinforce the clinical and epidemiological importance of a common disorder whose significance is under-appreciated and impact largely ignored. In contradistinction to our earlier chapter, published in 2000, which took for its remit the heritable disorders of connective tissue in general, the current one focuses on the commonly encountered (so-called benign) joint hypermobility syndrome, its recognition, epidemiology, clinical features and management according to the most recent literature.     

Joint hypermobility

Patients with joint hypermobility, perhaps the mildest of the various inherited abnormalities of connective tissue, may present to a rheumatologist or general practitioner although a large proportion are recognized by health professionals, particularly physiotherapists. Hypermobility may be generalized or extreme at a small number of joints. Sometimes it is associated with involvement of other organs because of abnormal inherited collagen structure elsewhere. A small proportion of patients will have one of the more serious conditions such as Ehlers-Danlos syndrome, Marfan's syndrome or osteogenesis imperfecta. Management is multidisciplinary requiring a team including physicians, physiotherapists, occupational therapists and podiatrists, among others. Patients often wait a long time before receiving their definitive diagnosis and are sometimes dismissed as malingerers. Patients often have a lot of queries about their condition unrelated to their joints. Among these are whether there will be problems in pregnancy, whether the condition will be passed on to their children, whether symptoms arising from organs other than the joints are related and whether they might have been incorrectly accused of battering their children.     

Joint hypermobility and fibromyalgia in schoolchildren.

OBJECTIVES--To test the hypothesis that joint hypermobility may play a part in the pathogenesis of pain in fibromyalgia, schoolchildren were examined for the coexistence of joint hypermobility and fibromyalgia. METHODS--The study group consisted of 338 children (179 boys, 159 girls; mean age 11.5 years, range 9-15 years) from one public school in Beer-Sheva, Israel. In the assessment of joint hypermobility, the criteria devised by Carter and Bird were used. Any child who met at least three of five criteria was considered to have joint hypermobility. Children were considered to have fibromyalgia if they fulfilled the 1990 American College of Rheumatology criteria for the diagnosis of fibromyalgia, namely, widespread pain in combination with tenderness of 11 or more of the 18 specific tender point sites. The blind assessments of joint hypermobility (by AG) and fibromyalgia (by DB) were carried out independently. RESULTS--Of the 338 children 43 (13%) were found to have joint hypermobility and 21 (6%) fibromyalgia; 17 (81%) of the 21 with fibromyalgia had joint hypermobility and 17 (40%) of the 43 with joint hypermobility had fibromyalgia. Using chi 2 statistical analysis, joint hypermobility and fibromyalgia were found to be highly associated. CONCLUSIONS--This study suggests that there is a strong association between joint hypermobility and fibromyalgia in schoolchildren. It is possible that joint hypermobility may play a part in the pathogenesis of pain in fibromyalgia. More studies are needed to establish the clinical significance of this observation.     

Joint hypermobility in patients with fibromyalgia syndrome

Objective. To test the hypothesis that joint hyperlaxity can play some role in the pathogenesis of pain in primary fibromyalgia. Methods. A total of 66 women with fibromyalgia (according to the 1990 American College of Rheumatology criteria) and 70 women with other rheumatic diseases were examined for joint laxity based on 5 criteria (The Non-Dominant Spanish modification). Individuals meeting 4 or 5 criteria were considered to be hyperlax. Results. Joint hyperlaxity was detected in 18 (27.3%) of the patients with fibromyalgia and 8 (11.4%) of those with another rheumatic disorder. The statistical analysis revealed significant differences (p < 0.05) between both groups. Conclusion. The results of this study suggest that joint hypermobility and fibromyalgia are associated. Joint hyperlaxity may play a prominent role in the pathogenesis of pain in fibromyalgia.     

Joint hypermobility and preschool-age flexible flatfoot

Flexible flatfoot is the most common condition seen in pediatric orthopedic practice and generalized joint hypermobility is widely regarded as one of the predisposing factors. However, in previous studies, the flatfoot was defined by observers’ subjective evaluation of the eversion of the bare foot in the standing position; and the joint hypermobility was defined by the Beighton score. The objective of this study is to evaluate the correlation between preschool-age flexible flatfoot and joint hypermobility in preschool-age children objectively.Footprints were measured on a Harris and Beath footprint mat. Flatfoot flexibility was assessed by Staheli Plantar Arch Index (PAI). Other than the Beighton score, 2 new measurement methods, the thumb-to-forearm test and the thumb-thrust test were developed to evaluate joint hypermobility.Of the 291 preschool children from 4 different kindergarten schools included in this study, 156 were boys and 135 were girls. The mean age was 64.18 ± 9.33 months (range 35–88 months). Pearson correlation analysis demonstrated PAI was not associated with the Beighton score (R = 0.020, P = .735), thumb-to-forearm grade (R = 0.109, P = .066), and thumb-thrust grade (R = 0.027, P = .642). Two-sample t-test results showed that the normal and flatfoot groups did not differ significantly in the Beighton score (P = .404), thumb-to-forearm grade (P = .063), and thumb-thrust grade (P = .449).The results demonstrated no correlation between joint hypermobility and preschool-age flexible flatfoot when flatfoot was defined with Staheli PAI and joint hypermobility with the Beighton score. Even with 2 new methods, the thumb-to-forearm test and thumb-thrust test, to define joint hypermobility, we still found no correlation between preschool-age flexible flatfoot and joint hypermobility.     

Joint hypermobility in primary mitral valve prolapse patients

Summary Twenty-seven patients with echocardiographic evidence of primary mitral valve prolapse (MVP) were tested for the presence of joint hypermobility using the criteria of Beighton and Horan. In the examined group, joint hypermobility was found in 14 patients (52%). This occurrence was statistically significant. In patients with simultaneous occurrence of MVP and articular hypermobility we have found a number of pathologic arthrologic manifestations, such as arthralgias, synovitic reactions, distortions, low back pain, and others. In patients with articular hypermobility, there were increased functions of antigen B 35.     

Joint hypermobility in adults referred to rheumatology clinics.

Joint hypermobility is a rarely recognised aetiology for focal or diffuse musculoskeletal symptoms. To assess the occurrence and importance of joint hypermobility in adult patients referred to a rheumatologist, we prospectively evaluated 130 consecutive new patients for joint hypermobility. Twenty women (15%) had joint hypermobility at three or more locations (greater than or equal to 5 points on a 9 point scale). Most patients with joint hypermobility had common musculoskeletal problems as the reason for referral. Two patients referred with a diagnosis of rheumatoid arthritis were correctly reassigned a diagnosis of hypermobility syndrome. Three patients with systemic lupus erythematosus had diffuse joint hypermobility. There was a statistically significant association between diffuse joint hypermobility and osteoarthritis. Most patients (65%) had first degree family members with a history of joint hypermobility. These results show that joint hypermobility is common, familial, found in association with common rheumatic disorders, and statistically associated with osteoarthritis. The findings support the hypothesis that joint hypermobility predisposes to musculoskeletal disorders, especially osteoarthritis.     

Joint hypermobility leading to osteoarthrosis and chondrocalcinosis.

We have reviewed 21 adults referred to rheumatology clinic and considered to have generalised joint hypermobility by the criteria of Carter and Wilkinson (1964), modified by Beighton et al. (1973). They fell into two categories. 5 patients had a raised plasma viscosity (PV) and in each case a definite pathology was found to account for this, superimposed on hypermobile joints. The remaining 16 had a normal PV and this group was thought to represent the late natural history of hypermobility. 5 of these (aged 32 to 54 years) had no evidence of osteoarthrosis but the remaining 11 (aged 34 to 80 years) had widespread radiological osteoarthrosis. Synovial histology was obtained at arthroscopy in 6 of these patients and 4 (aged 60 to 75) had chondrocalcinosis. This previously undescribed finding may be the end result of hypermobile joints. Hypermobile patients with joint deformity (lax connective tissue), widespread synovial thickening (traumatic), and hot joint effusions (chondrocalcinosis) may mimic rheumatoid arthritis. They must be distinguished from patients who develop rheumatoid arthritis in hypermobile joints.     

Joint hypermobility: the use of a new assessment tool to measure lower limb hypermobility

OBJECTIVES: The aim of the study was to compare the use of a new assessment tool for diagnosis of hypermobility in the lower limb to the Beighton score for generalised hypermobility. METHODS: Three groups of children were compared (n = 225) and included a "normal" population of 116 school children, a "possible hypermobile" group of 88 children attending afoot and gait clinic and a "known hypermobile" group of 21 children referred from a paediatrician or rheumatologist. The Beighton score was used to measure generalised hypermobility. The Lower Limb Assessment Score was used to measure hypermobility in the lower limbs. RESULTS: The Lower Limb Assessment Score was able to distinguish between the three groups of children better than the Beighton score. At a threshold of 5/9 indicating hypermobility, the Beighton score identified hypermobility in 34% of school children; the lower limb score identified hypermobility in 21% of school children after a threshold was identified. There was disagreement between the scores in school children where 26.7% of children appeared to have a positive Beighton score that was not accompanied by a positive lower limb score. In the "known hypermobile" group the Beighton score was positive in only 10% of children when the lower limb score was negative for hypermobility. CONCLUSION: In this group of school children, the Beighton score appeared to over-diagnose hypermobility at the threshold of 5/9. Specific thresholds for diagnosis need to be set dependant on the age and ethnic group of the population being studied. The Lower Limb Assessment Score may be a useful score for health professionals specifically interested in lower limb hypermobility.     

Joint hypermobility syndrome: problems that require psychological intervention

Joint hypermobility syndrome (JHS), also known as Ehlers–Danlos III, is an inherited disorder of connective tissue, characterised by an exceptional increase in the joint’s mobility and the presence of musculoskeletal and other symptoms. It is a benign syndrome if compared with the other types of Ehlers–Danlos, but it can become disabling particularly because it is a significant source of pain and distress. The purpose of this work is to describe some common problems in JHS that render psychological intervention in their overall management relevant. Chronic pain, associated psychopathological factors such as anxiety, depression and somatosensory amplification, and problems arising from a lack of recognition and knowledge of the syndrome, are frequent among those affected, having a negative impact on their quality of life. We emphasise the relevance of addressing JHS from a biopsychosocial approach.     

Joint hypermobility and primary fibromyalgia: a clinical enigma

OBJECTIVE: To investigate the association of joint hypermobility (JH) and primary fibromyalgia (FM). METHODS: Eighty-eight patients admitted with widespread pain and 90 matched healthy controls were blindly evaluated according to criteria for the presence of JH and FM. RESULTS: Fifty-six patients initially recognized as having FM met the American College of Rheumatology (ACR) diagnostic criteria for FM and 6 of 90 healthy controls had these criteria at the subsequent blinded examination. The frequency of JH was 8% in patients with FM and 6% in subjects without FM (p > 0.05). Interestingly, JH was found in 10 of 32 "FM" patients (31%) who had not exactly met the ACR criteria for FM. The occurrence of JH was more common in these patients compared to controls (p < 0.001). In total, 16% of patients evaluated with widespread pain had associated with JH. CONCLUSION: Some patients who have clinical symptoms of FM but do not exactly meet the ACR criteria could in fact have JH, and these patients may be misdiagnosed as having FM. Widespread pain is associated with JH in women under age 50, with some of them fulfilling ACR tender point criteria for FM.     

Joint laxity and the benign joint hypermobility syndrome in student and professional ballet dancers

OBJECTIVE: To ascertain the prevalence of hypermobility and the benign joint hypermobility syndrome (BJHS) in male and female student and professional ballet dancers, and explore whether BJHS has any effect on a dance career. METHODS: Students from the Royal Ballet School and professional dancers from the Royal Ballet Company, London, were compared with a control group of teenagers and adults from a local secondary school and The Royal Opera House, respectively. The data, examined by variance analysis, included anthropometric variables, the Beighton score, and clinical features constituting BJHS. Odds ratios for hypermobility and BJHS in dancers were calculated, and the prevalence and distribution of BJHS was examined. RESULTS: Hypermobility and BJHS were common in male and female dancers compared with controls. An OR of 11.0 (95% CI 3.3-31.8) was found for hypermobility in dancers for both the ballet school and the professional company. The prevalence of BJHS was found to decline both from student to professional and within the ballet company from corps de ballet to Principal. Odds ratios for BJHS in student dancers were significant, OR = 3.9 (95% CI 1.3-11.3), but not so in professional dancers: OR = 1.7 (95% CI 0.6-4.7). Arthralgia was common in dancers and was reported more often in males than females. In females, pain was reported most by dancers with other features of BJHS, in particular stretchy skin. CONCLUSION: Hypermobility and BJHS are common in both male and female student and professional ballet dancers. The fall in prevalence, and the greater reporting of arthralgia with other features of BJHS in young female dancers, suggests that BJHS may have an important negative influence, and this may have implications for training. The same pattern was not observed in males, suggesting that their pain-reporting and injury are related to factors other than BJHS.     

Phenylketonuria in Indian children

Three untreated phenylketonuric Indian children aged respectively 3 1/2 years, 1 1/2 years and 1 year showed rapid neurological deterioration. Plasma, cerebrospinal fluid and urine phenylalanine concentrations were significantly raised and the phenylalanine-tyrosine ratio was high. Analysis of a biopsy of the right frontal lobe of the brain in one case showed the myeline lipids—cerebroside and sulphatide—to be decreased. The total cerebroside in white matter was low. Light microscopy showed marked pallor of the white matter of the brain and extensive spongy degeneration. Ultrastructurally these spongy vesicles are located between the lamellae of the myelin sheath.     

Pain intensity and quality of life perception in children with hypermobility syndrome

Hypermobility syndrome (HMS) is a major source of morbidity in children. Impaired quality of life (QoL) has been observed recently in adults with HMS; however, this issue is yet to be investigated in children with this condition. This study compared pain intensity and QoL in children with HMS with healthy controls. It also examined the relationship between pain intensity and QoL in children with HMS. Following ethical approval, 29 children diagnosed with HMS and 37 healthy children aged 8–15 years participated. Informed written consent was obtained from participants and their parents/guardians. Average knee pain over the past week was examined using the Coloured Analogue Scale. QoL was measured via the Pediatric Quality of Life Inventory. Mann–Whitney U tests were performed to compare pain and QoL scores between the two groups. Spearman Rho correlation analysis was performed to examine the relationship between pain and QoL. Overall QoL scores in each domain were significantly lower in children with HMS (all p < 0.001) compared with the controls. Pain intensity was significantly higher in children with HMS compared with their healthy counterparts (p < 0.001). A strong negative correlation was observed between pain intensity and overall QoL and all the domains (r range = −0.614 to −0.717; all p < 0.001). In conclusion, the findings of the present study imply that pain and QoL assessment might form important components of clinical examination for children diagnosed with HMS. These children may benefit from appropriate treatment programmes to alleviate pain intensity and improve QoL.