Case Studies

Benign Joint Hypermobility Syndrome – not so ‘Benign’

Yathish GC1*, Canchi Balakrishnan2, Mangat Gurmeet2, Taral Parikh1, Sagdeo Parikshit1, Girish Kakade1

 

Author Affiliations

1*Resident in Rheumatology, P.D Hinduja Hospital and Research Centre, Mumbai

2Consultant Rheumatologist, P.D Hinduja Hospital and Research Centre, Mumbai

 

Correspondence: Dr Yathish GC

yathishgc45@gmail.com

 

IJRCI. 2015;3(1):CS4

Received: 5 April 2015, Accepted: 30 April 2015, Published: 21 May 2015

© IJRCI

 

Abstract

Benign joint hypermobility syndrome (BJHS) was earlier considered as a mild or trivial entity, but nowadays it is reported as a multisystem hereditary connective tissue disorder with serious morbidities. In fact, the term ‘Benign’ has been removed, renaming the disease as ‘Joint Hypermobility Syndrome’ (JHS). In addition to the well-known musculoskeletal consequences of joint pain and instability, it can cause chronic widespread pain, gastrointestinal dysmotility, anxiety, phobic states and dysautonomia. We present here the case of a 53-year-old lady who presented with history of irritable bowel syndrome, elbow dislocation, repeated knee injuries, and instability resulting in severe secondary osteoarthritis (OA).

 

Case report

A 53-year-old lady presented to the OPD with a 16-year history of instability while walking, repeated knee injuries, and buckling and give away sensation at both knee joints. She had a previous episode of left elbow dislocation following a fall. She also experienced multiple joint and soft tissue pain while performing household activities. She denied back pain, swelling or morning stiffness in any of the joints. She was treated for irritable bowel syndrome by a gastroenterologist as she showed symptoms of repeated loose motions, abdominal pain and bloating sensation. She didn’t have any co-morbidities or previous episodes of fractures.

 

Physical examination revealed hyperextensibility of joints as evidenced by ability to oppose the right thumb to the volar aspect of the forearm and passive dorsiflexion of the fifth metacarpophalangeal joint to ≥90°. She had bilateral knee valgus, genu recurvatum, ankle valgus, and pes planus deformities in lower limb. Both knees were unstable and valgus test was positive. In spite of severe knee deformities, range of motion was well preserved and painless. She had Marfanoid habitus in the form of soft elastic skin, high arched palate, thumb sign (Steinberg’s sign), and an increased arm span to height ratio (Fig. 1 and 2). She didn’t have any other systemic features suggestive of Marfan’s syndrome. 

 

Her hematological and biochemical investigations including inflammatory markers were within normal limits. Knee X-ray (AP view) showed bilateral valgus deformity, subluxation, loss of lateral tibiofemoral compartment joint space, osteophytes, subchondral sclerosis, and cysts suggestive of secondary OA (Fig 3).

 

Fig. 1 : Soft, hyperelastic and visibly transparent skin

 

Fig. 2: Thumb sign (Steinberg sign)

 

Fig. 3: AP view of knee showing bilateral valgus deformity, subluxation, and severe lateral tibiofemoral compartment OA

 

Discussion

JHS is a common disorder originally defined as ‘the occurrence of symptoms in otherwise healthy hypermobile individuals’.1 It is now considered as a complex genetic disorder with manifestations that permeate well beyond the confinement of the musculoskeletal system. Hypermobility syndrome is diagnosed using the 1998 Brighton criteria, which includes relevant clinical symptoms, Beighton score, and other phenotypic features (Table 1 and 2).2

 

Table 1. Nine-point Beighton hypermobility score

 

Table 2: 1998 Brighton revised diagnostic criteria for BJHS

 

Musculoskeletal symptoms due to laxity of joints are the common presentation of JHS (Table 3). Skin may be visibly transparent, soft or silky, and palpably reduced in thickness with increased stretching. Scar formation is impaired, resulting in characteristically paper-thin scars. Visceral complications occur due to weakness affecting supporting structures such as the diaphragm, abdominal wall, and pelvic floor. Complications include hiatal hernias, abdominal wall hernias, uterine or rectal prolapse, rectocele, and cystocele. Varicose veins are also a common occurrence in JHS. Mitral valve prolapse and spontaneous pneumothorax are rarer manifestations. Depression, anxiety, fibromyalgia and irritable bowel syndrome are frequent accompaniments of the chronic pain in JHS.3, 4 Symptoms suggestive of an autonomic disturbance, including presyncope, syncope, and palpitations, are reported in around 60% of patients with JHS.5, 6

 

Table 3: Common musculoskeletal presentations

 

Treatment is often challenging in patients with severe symptoms. Agents like simple analgesics and anti-inflammatory drugs are the initial choices for both acute and chronic pain resulting from injuries. Majority of patients, however, report that these agents are of little benefit in reducing chronic pain. Serotonergic and noradrenergic agents are used for treating fibromyalgia and chronic widespread pain. Physiotherapy, occupational therapy, and podiatry are the important components of treatment for this not so ‘benign’ condition.

Competing interests

The authors declare that they have no competing interests.

 

References

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2.     Grahame R, Bird HA, Child A, et al. The revised (Brighton 1998) criteria for the diagnosis of benign joint hypermobility syndrome (BJHS). Journal of Rheumatology. 2000;27(7):1777-9.

3.     Gratacòs M, Nadal M, Martı́n-Santos R, Pujana MA, Gago J, Peral B, et al. A polymorphic genomic duplication on human chromosome 15 is a susceptibility factor for panic and phobic disorders. Cell. 2001;106(3):367–79.

4.     Farmer AD, Zarate-Lopez N, Mohammed SD, et al. Functional gastrointestinal symptoms and joint hypermobility: is connective tissue the missing link? [abstract 217]. Rheumatology. 2009;48.

5.     Gazit Y, Nahir AM, Grahame R, Jacob G. Dysautonomia in the joint hypermobility syndrome. The American Journal of Medicine. 115(1):33–40.

6.     Hakim AJ, Grahame R. Non-musculoskeletal symptoms in joint hypermobility syndrome: indirect evidence for autonomic dysfunction. Rheumatology. 2004;43: 1194-5.