- Correspondence to: I Knight , H A Bird
- Accepted 6 May 2010
On reflection, I should have realised that I was either a little bit different or had some remarkable powers of flexibility. It is perhaps unusual to be able to put your legs behind your neck or to put both hands flat on the floor without warming up first. As a teenager I was told that I had “swayback knees,” but I just got on with my life at the time, which was then (and remains) very ballet orientated. Not perhaps a wholly unexpected choice of activity for someone with an above average level of joint mobility; indeed, there is a high prevalence of hypermobility in the ballet world because of the desirable aesthetic qualities of hypermobile limbs. However, I had no idea that behind the beauty of my extensions lay immense pain and fatigue.
There is a difference between having hypermobile joints, which might be classified as generalised joint hypermobility and is asymptomatic, and the joint hypermobility syndrome, which has symptoms. My symptoms started when I was 17 years old (I am now 35), and I started to get pain in my lumbar spine. I had physiotherapy for an inflamed sacroiliac joint, but the pain became more established and painful over time. I had many years of back pain, which eventually became disruptive, and I gave up ballet classes in 1999 and even stopped work for six months in 2001 (aged 24). Magnetic resonance imaging showed a disc prolapse and degeneration at L4/5. Whenever I was referred to physiotherapists and osteopaths over those years, they used to ridicule my spine and say that it “looked” horrendous in terms of my range of movement and were often extremely unhelpful. Only one physiotherapist looked at giving me any core stability work to try to stabilise what is now described as a hinging at that level of the spine.
I attended a pain management course in a well known London hospital in the autumn of 2006, where they apparently knew I was hypermobile but did not look at all the symptoms that I was experiencing and piece things together. Unfortunately, joint hypermobility syndrome is a difficult condition to diagnose and only one in 20 people with the condition are given the correct diagnosis.
The clues to my diagnosis began two years ago. I had restarted ballet classes gradually in 2007 and by early 2008 was doing four classes a week; I was probably doing too much too soon, and not sensibly pacing my activity. As a result I partially tore my right calf. After some physiotherapy, I was discharged as soon as I was able to walk again. When I was dancing again I realised it was still not right, and decided to see a dance specialist physiotherapist at Laban Health in southeast London.
My physiotherapist initially gave me some rehabilitation exercises for the area of concern but soon realised that most of my problems were due to gross instability caused by my (many) hypermobile joints and that I was going to need extensive strengthening and core stability work. I am still nowhere near being “fixed,” but I have come a considerable way since then (the journey can be seen in my blog, www.danceinjuryrecovery.blogspot.com). It has taken immense determination to put my body back together, and if it wasn’t for the huge improvements in functioning and movement, and the payback of improved performance in class, I would have given up long ago.
After treating me for about six months my physiotherapist did some hands-on work on me and realised that my tissue response was somewhat unusual. For example, she might treat one area (the right hip, say), move to another area, then return to the starting point and find my tissues had gone back to where they were—therefore progress was seemingly nil. At the same time I was having considerable trouble with fatigue, not for the first time in my life. I was regularly feeling “run over” and disproportionately exhausted. It was at this point that my physiotherapist thought that I might not just be hypermobile, but have joint hypermobility syndrome. My history of chronic pain and frequent soft tissue trauma made this diagnosis more likely. Also, I had been a very late walker, had not crawled, and had night cramps and growing pains, including problems with motor control (my coordination was and still is very poor); these are all indicative of the syndrome.
Joint hypermobility syndrome is formally diagnosed, often by using the Beighton score and the Brighton criteria (boxes 1 and 2). The Brighton criteria differentiate the hypermobile patient from the one who has the syndrome, because of positive responses to joint pain and signs indicative of faulty collagen—for example, skin extensibility, prolapses, and varicose veins. My over-riding message to the medical profession would be to “think outside the box” in the case of a patient who regularly presents with joint pain and injuries. I believe that some of my injuries and traumas could have been prevented if I had been diagnosed when much younger and been given the appropriate remedial strengthening and stability work from the outset.
Box 1 Beighton score
Give yourself one point for each of the manoeuvres you can do, up to a maximum of 9 points:
Can you put your hands flat on the floor with your knees straight? (1 point)
Can you bend your elbow backwards? (left 1 point, right 1 point)
Can you bend your knee backwards? (left 1 point, right 1 point)
Can you bend your thumb back on to the front of your forearm? (left 1 point, right 1 point)
Can you bend your little finger up at 90º (right angles) to the back of your hand? (left 1 point, right 1 point)
Box 2 Brighton criteria
Beighton score of >4
Arthralgia for longer than 3 months in four or more joints
Beighton score of 1, 2, or 3
Arthralgia (>3 month duration) in one to three joints or back pain (>3 month duration) or spondylosis, spondyloysis/spondylolisthesis
Dislocation or subluxation in more than one joint, or in one joint on more than one occasion
Three or more soft tissue lesions (eg, epicondylitis, tenosynovitis, bursitis)
Marfanoid habitus (tall, slim, span greater than height (>1.03 ratio), upper segment less than lower segment (<0.89 ratio), arachnodactyly)
Skin striae, hyperextensibility, thin skin, or abnormal scarring
Ocular signs: drooping eyelids, myopia, antimongoloid slant
Varicose veins, hernia, or uterine or rectal prolapse
Mitral valve prolapse
Requirement for diagnosis
Any one of the following:
Two major criteria
One major plus two minor criteria
Four minor criteria
Two minor criteria and an unequivocally affected first degree relative in family history
Joint hypermobility syndrome is an invisible condition, but it is hard work controlling limbs that have such an extra range of movement. Indeed, I am lucky that I have not subluxated or dislocated any joints, as this is a regular problem for many patients with joint hypermobility syndrome. Pain and fatigue are a large part of this condition, but the range of symptoms is wider. For example, irritable bowel syndrome and asthma are related to the syndrome because it is a connective tissue disorder and the problems stem from having abnormally stretchy collagen fibres, as I understand it. Given that the guts and lungs are stretchy tissues in themselves, one can perhaps begin to understand the repercussions of faulty connective tissues.
On the whole, people are not sympathetic to the condition, and I have lost relationships because of being in pain so often. Even friendships have suffered because I have often been so exhausted at the end of a working day that I had no reserves for going out and socialising. I suppose that because I look healthy and well and I dance, people dismiss my symptoms. Sometimes it gets hard to deflect people’s lack of sympathy and negative comments. Talking to other patients—for example, via the Hypermobility Syndrome Association forum (see box 3)—can be supportive and helpful.
I am one of the lucky ones. I have a wonderful physiotherapist who is incredibly supportive and who has really helped me. My body has changed beyond all recognition over the past two years. With the help of regular pilates sessions and ongoing physiotherapy, I am still managing to do ballet classes. I will probably have to do remedial exercises for the rest of my life, but at last I am starting to have some sense of control over my body, compared with the chaos of the past. I have a mission to ensure that others with the condition are helped. Since completing my MSc in Dance Science, I have been researching the condition and am now writing a patient led book on joint hypermobility syndrome, to be published in mid-2011.
A doctor’s perspective
Joint hypermobility implies that the patient has joints with a wider range of movement than would normally be expected. Conventionally, this is identified by the nine point Beighton scoring system, devised in 1973 for epidemiological work in an African population (box 1). This in itself does not give information about the factors that are contributing to the increased range of movement of joints. The structure of collagen and the shape of the bony articulating surfaces both contribute, as may neuromuscular tone and possibly proprioception. Collagen is ubiquitous and when lax in the joint capsule it may also be lax at other sites in the body. If this occurs, and particularly if the joints are painful, it is normally described as a joint hypermobility syndrome. Separate criteria (the Brighton criteria, published in 2000; box 2) allow hypermobility to be diagnosed on the basis of fewer affected joints, especially if there are supporting features.
The multifaceted nature of the condition often leads to confusion in making a diagnosis, and I can sympathise with Isobel’s difficulty in finding a general practitioner, even a rheumatologist, with the skill and experience to make the diagnosis and then to analyse why the condition was present, which informs management. Management is likely to involve close collaboration between physician, physiotherapist, occupational therapist, and podiatrist. The websites of self help groups contain valuable educational material.
Isobel would clearly have benefited from earlier diagnosis and advice on treatment from a doctor or physiotherapist who was prepared to consider the body as a whole rather than just the joints. Interactions between hypermobility and the hormonal environment can be complex, as are some of the developmental orthopaedic abnormalities that are often associated with this condition.
Irritable bowel syndrome is common, partly because of stasis and partly because of the mild autonomic neuropathy that is often present in these patients. Laxity at the bladder neck can lead to stress incontinence. Easy bruising, severe Raynauld’s phenomenon, hypotension, and asthma all occur. Some patients seem to fracture easily. In women, hormonal levels often correlate with symptoms. Anxiety state is a recognised association, and some developmental psychological conditions may be related to the syndrome.
In more severe inherited conditions associated with hypermobility, such as Marfan syndrome, prophylaxis with losartan and even cytokine modulation to alter the rate of collagen formation may become possible. Specialised clinics devoted to these complex patients are few and far between and completely absent in some areas.
Isobel’s story draws attention to one of the benefits often conferred by hypermobile joints, which is prowess in dance as well as in some sports. Although joint laxity is generally advantageous in dancers, certain variants may be less suited to particular styles of dance. This is a complex area of performing arts medicine, and it demands not only a high degree of applied musculoskeletal expertise and knowledge of anatomy on the part of the practitioner but also an empathy with the artistic temperament.
Support for people with hypermobility syndrome
Hypermobility Syndrome Association—HMSA is a charity run by and for people with a diagnosis of hypermobility syndrome. The website (www.hypermobility.org) includes a discussion forum (www.hypermobility.org/forum/index.php) and patient support boards. The telephone line (tel 0845 345 4465) has a 24 hour answering service, and the association aims to reply to all messages within one working day.
Laban Health—Based in South East London, Laban Health (www.laban.org/health.phtml) has treatment rooms for physical therapy, a dance science laboratory and one of the largest pilates studios in the UK. Its multidisciplinary team of therapists specialise in dance and sports related conditions. They encourage a preventive approach to injury management and the development of cutting edge treatment strategies. Laban Health’s services are open to everyone.
Cite this as: BMJ 2010;340:c3044
Competing interests: None declared.
Provenance and peer review: Not commissioned; not externally peer reviewed.