International Journal of Rheumatic Diseases 2013

ORIGINAL ARTICLE

Clinical profile of benign joint hypermobility syndrome from a tertiary care military hospital in India Gautam MULLICK,1 Darshan S. BHAKUNI,1 Krishnan SHANMUGANANDAN,1 Mahendra K. GARG,2 Vivek VASDEV,1 Sivasami KARTIK1 and Rahul JAIN1 1

Department of Rheumatology, and 2Department of Endocrinology, Army Hospital Research and Referral, New Delhi, India

Abstract Background and aims: Joint hypermobility when associated with symptoms in the absence of systemic rheumatologic disease is termed as benign joint hypermobility syndrome (BJHS). BJHS is often an under-recognised and a poorly managed entity. Indian studies on BJHS are very few and none have been carried out in any of the service rheumatology centres. Hence this retrospective study was carried out at a tertiary medical institute of the Indian Army to assess the varied clinical profile of BJHS. Methods: All patients consecutively diagnosed as BJHS at the rheumatology clinic of the Army Hospital (Research and Referral) Delhi from May 2010 to May 2011 were included in the study. Their age, sex, presenting features, clinical profile, laboratory and radiological parameters were studied. Results: The mean age of these patients was 30  5.71 years with a median duration of symptoms of 42 (06– 120) months. There were 45 males and 39 females (male : female = 1.15 : 1.00). The median Beighton’s score in these patients was 6/9 (range 4–9). Most of our patients were military personnel (43/84), and all had knee joint pain with evidence of degenerative changes in 19 and synovitis in two patients. Eleven patients including nine military personnel had evidence of soft tissue rheumatism with associated fibromyalgia in four and anxiety disorder in one. Out of 18 patients with a Beighton’s score of  7, nine had incidental findings of lateral head tilt on frontal observation. There was evidence of carpal tunnel syndrome in a patient with wrist synovitis and one patient had associated skin laxity without features of Ehlers–Danlos syndrome. Conclusion: BJHS is often under-recognized in clinical practice and is usually missed because of a lack of awareness. A high index of clinical suspicion to diagnose this entity is essential due to its associated morbidities, especially among those exposed to strenuous physical activities. Key words: Brighton criteria, joint hypermobility, military personnel, physical activity.

INTRODUCTION The term ‘hypermobility syndrome’ was first used by Kirk et al. in 1967 to describe a disorder in which musculoskeletal pain and generalized joint hypermobility occur together.1 The term benign joint hypermobility syndrome (BJHS) has been applied to distinguish this

Correspondence: Dr Gautam Mullick, Department of Rheumatology, Army Hospital Research and Referral, New Delhi, 110010, India. Email: [email protected]

symptomatic, but not life-threatening disorder from diseases such as the Marfan syndrome and certain types of Ehlers–Danlos syndrome. Although the question of how ‘benign’ this disorder is remains unanswered, BHJS has been defined as concomitant with otherwise unexplained symptoms and generalized joint hypermobility.2 This syndrome is thought to be an inherited connective tissue disorder.3,4 The assessment of joint hypermobility is made by the Beighton’s scoring system and a confirmation of the diagnosis is according to the Brighton criteria.3,4 Other criteria have been proposed for diagnosis, including Bulbena’s criteria5; however,

© 2013 The Authors International Journal of Rheumatic Diseases © 2013 Asia Pacific League of Associations for Rheumatology and Wiley Publishing Asia Pty Ltd

G. Mullick et al.

the criteria defined by Brighton are used as the gold standard. Generalized joint laxity is commonly seen in healthy individuals who do not have complaints. Hypermobility that is not associated with systemic disease occurs in 4%–13% of the population.6,7 Hypermobility diminishes as one ages, and it also appears to be related to sex and race.7 In general, women have greater joint laxity than men, and up to 5% of healthy women have symptomatic joint hypermobility compared with 0.6% of men.8 People of African, Asian and Middle Eastern descent also have increased joint laxity.9–11 BJHS has a strong genetic component with an autosomal dominant pattern. First-degree relatives with the disorder can be identified in as many as 50% of cases. Although little is known about the genetic basis of BJHS, it is postulated that the haploinsufficiency for the extracellular matrix protein tenascin-X may be associated with BJHS.12 The onset of symptoms can occur at any age with variable clinical profiles. Most commonly, the initial complaint is joint pain, which may affect one or multiple joints and may be generalized or symmetric. Pain may involve any joint but most commonly involves the knee and ankle, presumably because they are weight-bearing joints. Physical activity or repetitive use of the affected joint often exacerbates the pain.13 Patients with BJHS often say that they are ‘double-jointed’ or that they can perform volitionary subluxation.13 Patients with BJHS may also have a history of shoulder or patellar disloca-

tion. There are very few case studies on BJHS from India,14,15 and none at any of the military hospitals todate. Therefore, the present study was conducted at the rheumatology clinic of the Army Hospital (Research and Referral) Delhi, with a particular aim to analyze the varied clinical presentations and investigative profile of BJHS.

PATIENTS AND METHODS All patients who presented to the rheumatology clinic at the Army Hospital (Research and Referral) between May 2010 and May 2011 were assessed for evidence of joint hypermobility. Joint hypermobility (Fig. 1) was detected in 145 patients from a total of 2486 patients (5.8%) who attended the rheumatology clinic. A total of 84 patients with a minimum Beighton’s score of 4 (Table 1) were diagnosed as BHJS based on Brighton’s criteria (Table 2) and were included in the study. Of these, 73 (86%) patients had been earlier diagnosed with various rheumatological disorders, which included: nonspecific polyarthralgia (44 patients); rheumatoid arthritis (14) patients; ankylosing spondylitis (13 patients); undifferentiated spondyloarthritis (11 patients); and two patients were even labelled as depressive disorder. Seventy-five patients had been referred to this centre by primary care physicians for unrelenting musculoskeletal symptoms, whereas nine

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Figure 1 Clinical findings in patients with BJHS.

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RESULTS

Table 1 Modified Beighton score Assessment site

Right

Left

1

1

1

1

1

1

1

1

Hyperextension of elbow > 100 Thumb touching the forearm Hyperextension of fifth MCP joint Hyperextension of knee joint > 100 Hand touching the floor with full palms and knees extended Maximum possible score Hypermobility present if total score 

1

9 4

MCP, metacarpophalangeal joints.

Table 2 Diagnostic criteria for BJHS (Brighton 1998) Major criteria Beighton score of 4/9 or greater (either currently or historically) Arthralgia for longer than 3 months in four or more joints Minor criteria Beighton score of 1–3 Arthralgia (> 3 months) in 1–3 joints or back pain > 3 months, spondylosis, spondylolysis or spondylolisthesis Dislocation/subluxation in more than one joint, or in one joint on more than one occasion. Soft tissue rheumatism > 3 lesions (e.g. epicondylitis, tenosynovitis, bursitis) Marfanoid habitus (span: height ratio > 1.03 or upper segment lower segment ratio < 0.89) Abnormal skin: striae, hyperextensibility, papyraceous scars, thin skin Eye signs: drooping eyelids, myopia or antimongoloid slant Varicose veins, hernia, uterine/rectal proplase BJHS if 2 major OR 1 major + 2 minor OR 4 minor Criteria 1 major and 1 minor as well as 2 major and 2 minor mutually exclusive 2 minor sufficient if first-degree relative present Exclusions: Ehlers–Danlos (other than type III or hypermobility type) and Marfan syndrome BJHS, benign joint hypermobility syndrome.

had presented primarily on their own. A detailed general, systemic and musculoskeletal examination was done. They were also subjected to dermatological, ophthalmic and cardiac evaluation. Relevant laboratory and radiological investigations were carried out in these patients.

International Journal of Rheumatic Diseases 2013

The mean age of these patients was 30  5.71 years with a median duration of symptoms of 42 (6–120) months. There were 45 males and 39 females (male : female = 1.15 : 1.00). The median Beighton’s score in these patients was 6/9 (range 4–9). The most common symptomatology comprised of nonspecific polyarthralgia with excessive clicking and laxity of joints. Our study group mainly comprised of military personnel (43/84), and all had presented with severe exertional knee joint pain. There was evidence of knee osteoarthritis (OA) in 19 with synovitis in two of these patients. However, synovial fluid analysis revealed a non-inflammatory picture. There were 20 patients who had presented with low backache (LBA), but their symptoms were mechanical in nature with radiological evidence of lumbar degenerative disc disease in 17 patient. Human leukocyte antigen (HLA)-B27 was positive in six of these patients, but none had evidence of spondyloarthritis. Eleven patients, including nine military personnel, had evidence of soft tissue rheumatism with associated fibromyalgia in four and anxiety disorder in one. There was past history of recurrent joint dislocations on trivial trauma in seven soldiers. Fifteen patients with polyarthralgia had tested positive for rheumatoid factor, but none had any evidence of inflammatory arthritis, including negative anti-citrullinated peptide antibody results and normal serum inflammatory markers. Out of 18 patients with a Beighton’s score of  7, 9 (10.71%) had an incidental finding of a lateral head tilt (Fig. 1) on frontal observation. There was evidence of carpal tunnel syndrome (CTS) in a patient with wrist synovitis (Fig. 1) and one patient had associated skin laxity without any features of Ehlers–Danlos syndrome (Fig. 1). The complete clinical and investigative profiles of our patients is described in Tables 3 and 4.

DISCUSSION This study has shown that the prevalence of BJHS amongst patients presenting to a tertiary care rheumatology centre is 3.37%. In contrast, a previous study done by Kumar et al. at the All India Institute of Medical Sciences (AIIMS) in New Delhi had shown a higher prevalence (10%) of BJHS.14 This may be due the stringent referral system for the military personnel in the services despite having treatment facilities for their dependents. Although the exact population prevalence of BJHS is unknown, it may account for up to 30% of unselected patients presenting with non-inflammatory

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Table 3 Clinical profile of BJHS patients (n = 84; Median Beighton’s score: 6 [range: 4–9]) Symptom/clinical finding Non-specific polyarthralgia Knee pain Excessive joint clicking and laxity Low backache Soft tissue rheumatism (fasciitis/tendonitis) Lateral head tilt Recurrent joint dislocations Synovitis Fibromyalgia Carpal tunnel syndrome Skin laxity Anxiety disorder

No of patients (%) 44 (52.38) 43 (51.2) 21 (25) 20 (23.8) 11 (13.1) 9 (10.71) 7 (8.33) (shoulder, 5; knee, 2) 4 (4.76) (knee, 2; ankle, 1; wrist, 1) 4 (4.76) 1 (1.20) 1 (1.20) 1 (1.20)

BJHS, benign joint hypermobility syndrome.

disease to a general rheumatology outpatient clinic.16 There was also a reversal of male to female ratio in our study (1.15 : 1) in comparison to that of the AIIMS study (1.0 : 2.2) which could be a consequence of the strenuous physical activities performed by the serving soldiers. It is well established that patients with hypermobile joints who are routinely exposed to physical activities are prone to develop joint dislocation, traumatic synovitis or early OA.17,18 Similarly, serving personnel with BJHS who undergo regular physical exercises such as long runs and high jumps become susceptible to such consequences of joint laxity. A study in military recruits also supports the concept that excessive physical activity leads to musculoligamentous lesions in hypermobile patients.19 Another cause for recurrent joint trauma in BJHS may be impairment of joint proprioception which may result in disordered pain responses.20 Twenty-one patients with joint hypermobility described by Kirk and colleagues had pain that

was related to overuse.1 By virtue of being a service rheumatology centre, 95.5% (43/45) of the male patients were serving military personnel. Nineteen of these had premature knee OA and 7 had history of recurrent joint dislocations on trivial trauma. Studies have demonstrated soft tissue rheumatism (e.g., bursitis, tendinitis, fasciitis) to be associated with joint hypermobility,21 which was present in 11 patients in our study. LBA which was found in 20 patients in our study is also a frequent complaint in subjects with joint laxity.22 Fibromyalgia, a chronic pain syndrome characterized by diffuse pain and tender points is associated with joint hypermobility,23 and was detected in four of our patients. There have been very few reports of nerve compression disorders like CTS in patients with BJHS.24 The cause of CTS has been attributed to neuropraxia as a consequence of regularly adopted unusual sleep postures.24 In our study one patient who had gross synovitis of the right wrist was detected as having evidence of CTS. Studies have also demonstrated increased skin extensibility in BJHS patients.25 This feature which is one of the minor diagnostic criteria for BJHS,3 was detected in one of our patients. People with BJHS are more likely (69.3%) to have anxiety disorders than those with other rheumatological (22.0%) or chronic medical conditions (21.3%).26 Anxiety may be attributable to the perception of joint instability and frequent pain and injury without an understandable precipitating event.26 One patient in our study with soft tissue rheumatism and fibromyalgia, had a concomitant anxiety disorder. Patients with BJHS do not have an increased prevalence of significant cardiac, skin or eye abnormalities, helping differentiate from other hereditary disorders of connective tissue.27 Similarly, we did not find any significant extra-articular manifestations in our cases except for skin laxity in one. A lateral head tilt on frontal observation which was observed in nine patients with a high Beighton’s score

Table 4 Investigative profile of BJHS patients (n = 84) Investigation Mean CRP (normal < 10 mg/L by nephelometry) Rheumatoid factor (normal < 20 IU/mL by nephelometry) ACPA HLA-B27 Radiological findings Synovial fluid analysis (in 2 patients with knee synovitis)

Result 4.14 ( 2.41) Positive in 15 (17.85%) patients Mean: 42.4  8.4 Nil positive Positive in 6 (7.14%) patients Knee OA: 19 (22.61%) Lumbar spondylosis: 17 (20.23%) Non-inflammatory picture

BJHS, benign joint hypermobility syndrome; CRP, C-reactive protein; ACPA, anti-citrullinated peptide antibody; HLA-B27, human leukocyte antigen-B27.

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could be attributable to a hypermobile cervical spine. Although there were no localising symptoms of neck pain or stiffness reported, this ‘lateral head tilt sign’ gave a leading clue in the spot diagnosis of BJHS in three of these patients. To the best of our knowledge, this sign has not been mentioned in the literature to-date. One limitation of this study was the small number of patients recruited. Further, a longer duration of study with analysis of even greater numbers of subjects would have provided robust evidence of the association of this ‘lateral head tilt sign’ with BJHS.

CONCLUSION BJHS is often under-recognised and usually missed in clinical practice due to a lack of awareness. The possibility of BJHS should be considered in patients presenting with non-specific musculoskeletal symptoms. It has a disabling impact in military personnel who are exposed to strenuous physical activities. The ‘lateral head tilt sign’ which was observed as an incidental finding in 10% of our patients, may be considered as a leading clue to BJHS.

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10 Finsterbush A, Pogrund H (1982) The hypermobility syndrome. Clin Orthop Relat Res 168, 124–7. 11 Larsson LG, Baum J, Mudholkar GS, Kollia GD (1993) Benefits and disadvantages of joint hypermobility among musicians. N Engl J Med 329, 1079–82. 12 Zweers MC, Kucharekova M, Schalkwijk J (2005) Tenascin-X: a candidate gene for benign joint hypermobility syndrome and hypermobility type Ehlers–Danlos syndrome? Ann Rheum Dis 64, 504–5. 13 Simpson MR (2006) Benign joint hypermobility syndrome. Evaluation, diagnosis, and management. JAOA 106, 531–6. 14 Kumar A, Wadhwa S, Acharya P et al. (2006) Benign joint hypermobility syndrome: a hospital-based study from northern India. Indian J Rheumatol 1, 8–12. 15 Lawrence A (2005) Benign hypermobility syndrome. Indian J Rheumatol 5, 150–5. 16 Grahame R, Hakim AJ (2004) High prevalence of joint hypermobility syndrome in clinic referrals to a north London community hospital [abstract]. Rheumatology 43 (Suppl 2), 91. 17 Beighton PH, Grahame R, Bird HA (1999) Hypermobility of Joints, 3rd edn. Springer–Verlag, London. 18 Bird HA, Tribe CR, Bacon PA (1978) Joint hypermobility leading to osteoarthrosis and chondrocalcinosis. Ann Rheum Dis 37, 203–11. 19 Acasuso-Diaz M, Collantes-Estevez E, Sanchez Guijo P (1993) Joint hyperlaxity and musculoligamentous lesions: study of a population of homogeneous age, sex and physical exertion. Br J Rheumatol 32, 120–2. 20 Hall MG, Ferrell WR, Sturrock RD, Hamblen DL, Baxendale RH (1995) The effect of the hypermobility syndrome on knee joint proprioception. Br J Rheumatol 34, 121–5. 21 Hudson N, Fitzcharles MA, Cohen M, Starr MR, Esdaile JM (1998) The association of soft-tissue rheumatism and hypermobility. Br J Rheumatol 37, 382–6. 22 Howes RG, Isdale IC (1971) The loose back: an unrecognized syndrome. Rheumatol Phys Med 11, 72–7. 23 Acasuso-Diaz M, Collantes-Estevez E (1998) Joint hypermobility in patients with fibromyalgia syndrome. Arthritis Care Res 11, 39–42. 24 March LM, Francis H, Webb J (1988) Benign joint hypermobility with neuropathies: documentation and mechanism of median, sciatic, and common peroneal nerve compression. Clin Rheumatol 7, 35–40. 25 McCormack M, Briggs J, Hakim A, Grahame R (2004) Joint laxity and the benign joint hypermobility syndrome in student and professional ballet dancers. J Rheumatol 31, 173–8. 26 Bulbena A, Dura JC, Porta M et al. (1993) Anxiety disorders in the joint hypermobility syndrome. Psychiatry Res 46, 59–68. 27 Mishra MB, Ryan P, Atkinson P et al. (1996) Extra-articular features of benign joint hypermobility syndrome. Br J Rheumatol 35, 861.

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Clinical profile of benign joint hypermobility syndrome from a tertiary care military hospital in India.

Joint hypermobility when associated with symptoms in the absence of systemic rheumatologic disease is termed as benign joint hypermobility syndrome (B...
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