Joint hypermobility syndrome (JHS) can produce a wide array of musculoskeletal, visceral, and psychological problems, which can seriously reduce quality of life. Yet many rheumatologists remain largely unaware of the significance of hypermobility and its impact, says one of the leading experts in this field, Professor Rodney Grahame (University College London Hospitals). In order to provide an update on the condition and its management, Dr Grahame has organized a series of short reports for JointandBone.org. Each documented report was written by the speaker who presented the topic at the EULAR 2004 Hypermobility Symposium, held in Berlin on June 10, 2004. The reports were offered to JointandBone.org free of charge as an educational service for our readers.

• Joint hypermobility syndrome in 2004 Professor Rodney Grahame
• The rheumatologist's approach Dr Howard Bird
• The therapist's contribution Rosemary Keer
• Anxiety, depression, and chronic pain Kate Ridout

• Rodney Grahame MD, Hypermobility Clinic, Centre for Rheumatology, University College London Hospitals, London, UK

The original concept of the joint hypermobility syndrome (JHS) as a largely trivial complaint, whereby loose hypermobile joints give rise to aches, pains, strains, dislocations, and occasionally, osteoarthritis is now obsolete and should be abandoned. The last two decades have seen a major shift in opinion, all new evidence now pointing to a multi-system heritable disorder of connective tissue (HDCT) with clinical features that overlap with those of other HDCTs such as the Marfan and Ehlers-Danlos syndromes (EDS) [1]. These features include marfanoid habitus, thin stretchy skin with impaired scar formation, a tendency to osteopenia, and an autosomal dominant pattern of inheritance [2].

The (9-point) Beighton score [3], useful as an initial screen, can no longer be considered the gold standard for recognizing hypermobility syndrome in clinical or epidemiological practice. It is an arbitrary all-or-none test that does not take into account the degree of laxity and in some individuals the score diminishes with advancing age, perhaps even reaching zero. Moreover, it samples only five sites, although studies have now shown that pauciarticular hypermobility is more common than polyarticular [4, 5]. The revised 1998 Brighton criteria for the (Benign) Joint Hypermobility Syndrome, published in July 2000, take all of these characteristics into consideration in addition to the symptomatic aspect and the multi-systemic involvement [6].

New research has identified associated neurophysiological abnormalities resulting in chronic pain [7], joint proprioceptive impairment [8, 9], resistance to the local anaesthetic effects of lignocaine [10], autonomic dysfunction [11], and psychological distress [12]. The latter, combined with a wide array of musculoskeletal and visceral problems may result in a serious reduction in quality of life [13]. This complex constellation of problems presents health providers with major challenges, yet rheumatologists remain largely unaware of the significance of hypermobility and its impact [14]. The clinical prevalence of the JHS phenotype, as judged by the Brighton Criteria, has recently been estimated to be as high as one in three in both males and females among unselected consecutive new adult referrals to a community hospital rheumatology service in London. In the case of non-Caucasian females the figure rises to 58% [15].

• Howard A Bird MD, Clinical Pharmacology Unit, University of Leeds, Leeds, UK

Patients may have waited some years for a precise clinical diagnosis from a specialist in this field. That hypermobility may be a feature of one of the more serious inherited abnormalities of connective tissue such as EDS, Marfan, or osteogenesis imperfecta, needs to be excluded from the outset. Sometimes there may be a degree of overlap between EDS type III and JHS. If diagnosis for an HDCT is made, specific specialist attention is required. However, this is beyond the scope of this article.

If JHS is diagnosed, a full assessment of the joints is required, starting with the available scoring systems such as the Beighton [3] and Brighton systems [6]. Arguably more important, however, is the consideration of whether the joint laxity is widespread or localized to a small number of joints for specific reasons. In turn, the contributions of collagen laxity, shape of bony articulating surfaces, poor muscular tone, and poor proprioception all need to be considered as they may have implications for therapists and hint at the possible prospect of premature osteoarthritis. All of the abovementioned features must be clearly explained to the patient.

Other physiological systems should also be reviewed, including the heart (possible mitral valve prolapse), the vasculature (potential varicose veins and a tendency to Raynaud's phenomenon), and the skin (subject to easy bruising). Hernias can also be present and there may be signs of dysautonomia, fragile bones, or asthma. The increased frequency of asthma likely reflects altered collagen structure in the lungs.

In order to answer the urgent need for education, in the UK both the Arthritis Research Campaign (http://www.arc.org.uk/) and the Hypermobility Syndrome Association (http://www.hypermobility.org/) produce appropriate literature and have insightful websites. For those in whom EDS (http://www.ehlers-danlos.org/) or Marfan syndrome (http://www.marfan.org.uk/) has been diagnosed, separate more specialized websites are available.

The most frequently asked questions are concerned with the possibility of passing JHS onto the next generation, which requires examination of both potential parents, and the risk of obstetric complications in an affected female. Typically, these are premature rupture of the membranes and a quick labor. In JHS, ante-partum and post-partum hemorrhages are only very occasionally encountered. As subjects may present with easy bruising, an unsuspecting casualty officer, unfamiliar with this condition may suggest a battered baby syndrome. Symptoms often get worse in adolescence. This may be related to one of the growth spurts or to the onset of menstruation, with symptoms possibly getting worse prior to each period. Patients are often passed from one specialist to another until the diagnosis is fully appreciated. Cases of hypermobility restricted to a small number of joints may lead to greater diagnostic confusion.

Responsibility for management is then largely passed to the multi-disciplinary team. Local practices may vary. In our institution, four separate departments are involved. The physiotherapists advise on the spine and larger joints, the occupational therapists concentrate on ergonomic assessment (particularly of the hands), the podiatrists review the feet and ankles, and the pain clinic can assist if conventional analgesia is not helping. A rheumatologist normally coordinates the overall process. First aid usually consists of exercises to stabilize the muscles around the affected joints and makes use of elasticized bandages to provide additional stability at susceptible joints when ergonomic stress is anticipated. An orthotist may sometimes be required to provide more protective splinting until greater muscular control is acquired. Additionally, patients must learn to pace their lifestyle and may require counseling and psychological support. For these reasons our practice offers a brief post-diagnosis admission to coordinate all of these services and provide the best care to our patients. This is of particular importance when the patient lives at a distance.

Occasionally patients are referred for surgery. This is advised with extreme caution since complications associated with the surgery include hemorrhage, infection, and poor healing, which is much more common in this group of patients. Some surgical procedures are of great benefit for serious orthopedic abnormalities. Laser shrinkage of the joint capsule, particularly at the knee and shoulder, is currently being assessed.

• Rosemary Keer, Director, Central London Physiotherapy Clinic, Harley Street, London, UK

JHS frequently presents with a complex array of symptoms, with pain being the predominant feature. Other reported symptoms include feelings of instability, subluxation, dislocation, stiffness, and incoordination. The condition is often not recognized and symptoms can therefore be present for a long time before a diagnosis is made. This can lead to physical deconditioning [16] and psychological effects such as anxiety, anger, and the loss of confidence in oneself and in healthcare professionals.

The basis for the symptoms is thought to lie in lax connective tissue, which predisposes the patient to trauma from overuse and misuse of joints and soft tissues [17]. This results in poor movement patterns or movement abnormalities, which can further stress the joints and soft tissue, particularly during repetitive activities and prolonged static postures.

Physical therapy is the mainstay of treatment in JHS and needs to address all of these issues to be successful. A management plan is usually made up of five elements:

1. Restoration of a normal range of movement, even if hypermobile: The physical examination is concerned with the concept of relative flexibility [18] and treatment is then directed at mobilizing hypomobile (stiff) areas and improving or gaining control of hypermobile areas.
2. Correction and prevention of movement dysfunction: Hypermobile individuals frequently have difficulty focusing movement in a particular area, probably due to defective proprioception [9]. Therefore movement re-education involves improving postural control and alignment, joint position sense, balance, and proprioception.
3. Improving/gaining joint stability: Hypermobile individuals show a tendency to rest at the end of range of joint movement in an attempt to find more stability. It seems sensible to encourage maintenance of more neutral joint positions in order to prevent ligament strain. This involves developing effective core/trunk stability initially and progressing to improving stability around peripheral joints in an attempt to produce balanced movement and control of hypermobile joints throughout their full range and throughout normal daily activities [19].
4. Advice and problem solving: This should be tailored to each individual patient and should include reassurance, education about the disorder, and general advice on joint care, with a particular focus on avoiding sustained and unhelpful postures. Problem solving and advice regarding specific activities and lifestyle modifications may be necessary for some patients.
5. General fitness: It is important to develop an enjoyable, relevant and customized exercise program to improve stamina, strength, and endurance and to encourage a lifelong commitment to exercise. This is essential for maintaining good physical fitness in order to resume normal daily activities and return to sport performances. Exercise in water has anecdotally been found to be particularly beneficial to JHS sufferers.

The main aim of treatment is to increase function, decrease disability, and enable the patient to confidently and effectively self-manage the condition.

• Kate Ridout, Chartered Clinical and Health Psychologist, Pain Management Centre, University College London Hospitals NHS Trust, London, UK

Chronic pain is a physical and psychological experience and is often associated with a range of difficult emotions. Amongst these are emotions that manifest themselves in a variety of anxiety-type symptoms and/or depressed mood. People with JHS who have chronic pain may require help to manage these types of emotional difficulties when they occur.

Researchers such as Drs Antonio Bulbena [20] and Rocio Martin-Santos [21] (Hospital del Mar, Barcelona, Spain) have suggested an association between panic and anxiety-type symptoms and a diagnosis of JHS. Clinical evidence suggests that the experience of chronic pain in childhood and adolescence in susceptible individuals may lead to an increased risk of developing anxiety-type symptoms and depression. People with JHS who began experiencing chronic pain in early life may therefore be particularly vulnerable to these types of psychological problems and may benefit from specialized psychological interventions.

A Chronic Pain Management Programme specifically designed for people with JHS has been developed at the University College London Hospitals. This is based on the cognitive-behavioral chronic pain management program model (eg, [22]) and is presented within a group setting. Prior to the development of this specialist program, people with JHS who attended the general pain management program (PMP) at UCLH tended to feel different from other group members and were at risk of attrition from the group.

Pilot data collected from 12 people with JHS who attended the specialist group suggests that at baseline, 75% of participants experienced clinical depression and 58% were ?extremely fearful? of the risk of injury or re-injury associated with their condition. These numbers suggest that a substantial proportion of people attending the specialist PMP are very distressed at the time of referral.

The program is based on a multidisciplinary team incorporating physiotherapists, psychologists, nurses specialized in medication reduction, and specialized medical input in the educational component of the program. The program emphasizes the following aspects:

1. Recovering lost function: Improving fitness and overcoming fear with a program of education, stretch and exercise. This includes identifying mislabeling of certain symptoms as threatening, developing ways to change unhelpful habits of thinking (?catastrophizing?) around these symptoms, and in vivo experimentation to help overcome fear of further physical damage.
2. Improving mood and self-efficacy: People are taught psychological techniques for recognizing where their own patterns of thinking may be unhelpful and for restructuring them, often based on new information. They are also encouraged to define personally relevant goals and create systematic plans for achieving them. Relaxation techniques are also taught within this component of the program.
3. Pacing activities: This involves patients learning to increase/modify their activity levels using a systematic technique where patterns of activity have previously been associated with increases in pain. In combination with graded exercise, people can gradually increase their tolerance to activity and slowly therefore perform more without causing ?flare-up? pain.
4. Medication reduction: Analgesic medication should systematically be reduced when it is no longer required. This becomes possible as people become increasingly confident in using pain management skills such as pacing and relaxation.

Measures of mood, pain-related self-efficacy and disability, catastrophic thinking about pain/condition, and fear associated with injury or re-injury were measured at baseline, 1 month, 3 months, and 12 months post-program (n=12). Demonstrable improvements in group-average scores of mood and self-efficacy were found with notable reductions in pain-related ?catastrophizing? and disability, and fear of injury or re-injury measured using the Tampa Scale of Kinesiophobia [23]. While these results represent a small sample of patients (data from persons completing two initial groups), they suggest that this approach may be worthwhile for group participants. The next step will be to collect data from additional groups and perform a formal statistical analysis of the results.

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