Benign Joint Hypermobility is not Benign

This issue of WJMP contains two articles (1,2) that address the problem of hypermobility syndrome (1,2): one article, Inter- and Intra-rater Reliability of the Beighton Score Compared to the Contompasis Score to Assess Generalised Joint Hypermobility, evaluates the reliability of the physical examination criteria used in making the diagnosis of generalized hypermobility syndrome (GHS). The other article, Impaired Quality of Life and Functional Status in Patients with Benign Joint Hypermobility Syndrome, focuses on the effect that benign joint hypermobility (BJHM) has on the quality of life of those who have this condition. These two articles underscore serious difficulties associated with the broad spectrum of hypermobility syndromes, one being the difficulty with diagnosis, the other with the affect HMS has on quality of life issues. The familiarity of clinicians with hypermobility syndromes is limited in my opinion, but undeservedly and tragically so.

Joint hypermobility is not a rare condition. The prevalence of joint hypermobility is reported to be anywhere from 5.7% to 19.2% depending on the criteria used (specifically, how many joints are affected when using the Beighton criteria), and the age and sex of the population described (3,4). Remvig et al. (5) cited a wide of 2–57% prevalence of hypermobility, again depending on the criteria used and the population studied. Polyarticular hypermobility has been observed to be present in 30% of males and 40% of females (6). These figures emphasize the wide variation in the prevalence of this condition is selected populations.

Not all persons with joint hypermobility are symptomatic. There is clearly a difference between the genotype for hypermobility and the phenotypic expression that determines the degree of symptom expression. The full extent of genetic variation that produces hypermobility is not appreciated. Genome wide examination of HMS subjects may help to identify a variety of genetic changes, each of which may produce HMS, so that the end result may in fact have many genetic variations that lead to a group of clinically related conditions (7). In addition, hypermobility is a definite risk for musculoskeletal pain and other comorbid pain and other disorders.

In my clinical experience, hypermobile individuals can present with chronic widespread pain that meet all the criteria for fibromyalgia syndrome (FMS). There is very little literature on this subject, however. Hypermobile individuals have many of the complaints seen in persons with fibromyalgia. The overlap of symptoms is so great, in fact, that it is reasonable to suspect that many persons diagnosed as having FMS in reality have hypermobility. One can argue whether or not there should be a category of secondary fibromyalgia or whether such individuals should be given FMS as a diagnosis at all. Nevertheless, patients with HMS have many of the comorbid conditions of FMS including gastrointestinal symptoms of constipation, diarrhea, bloating and hiatal hernia, dysphagia, as well as structural abnormalities of organ prolapse and intussusceptions (6). They have autonomic deficits of postural orthostatic hypotension and orthostatic intolerance, and palpitations. Headache, temporomandibular joint dysfunction, fatigue, and easy bruising are all associated with HMS (8). Anxiety and depression are more common in persons with the Ehlers–Danlos syndrome. Psychological symptoms are very common in this population. One psychiatric diagnosis is found in 42% of EDS patients and 22.7% have 2 or more psychiatric diagnoses (9). The odds ratios for having other complications are significantly high in EDS patients with psychological diagnoses of anxiety and depression. These complications include neuropathic pain, migraine, joint pain and fatigue (9). In those patients diagnosed as having FMS and EDS, the odds ratio for having mitral valve prolapse is 8.7 (95% CI 1.1–70.7) (10). EDS patients also show disturbances in proprioception and balance (11).

There is also an overlap between hypermobility syndrome and myopathy. EDS patients are often weak and scoliotic, just as people with myopathies are. Children and adolescents with myopathies tend to be hypermobile. Care must be taken to distinguish these two conditions, one from the other, because management, complications and prognosis are entirely different for EDS and myopathies. Aneurysmal and arterial rupture are also significant risks in EDS patients who have the more vascular than hypermobile forms, especially in the 3rd and 4th decades of life.

Myofascial pain syndrome (MPS) is generally not mentioned specifically with respect to HMS or EDS in the literature. MPS may be subsumed under the diagnosis of myalgia, a complaint mentioned frequently in association with HMS and EDS. The patients with EDS or symptomatic HMS that I treat generally have myofascial trigger point-related pain. It is difficult to treat this cause of pain because it tends to recur until the individual can strengthen enough to reduce joint instability.

Finally, there are specific neurologic syndromes arising from the increased association of HMS with Chiari type I, occipitoatlas instability, reduced clivoaxial angle and reduced clivo-atlas angle, that can give rise to visual disturbances, imbalance, numbness and subocciptial pain. There is also an increased association with the neuromuscular symptoms of hypotonia and weakness (12).

The two articles in this issue of WJMP, about aspects of hypermobility syndrome diagnosis and about impaired quality of life in this population, should make us more aware of the need to evaluate our chronic widespread neuromuscular pain patients, and those patients who present as fibromyalgia syndrome, for HMS, including EDS. We need to be aware that the diagnosis of HMS by physical examination varies depending on the age, sex and ethnicity of the patient. HMS is not just a joint laxity problem, but that it, like FMS, presents with multiple system complaints. Persons with HMS may limit their activities to reduce the possibility of developing pain, or they may “tough it out” in order to carry on their daily activities, but fail to inform us of how their life style is affected by the daily pain that they may consider normal. We must be sensitive to these nuances of the history, and become skilled in diagnosing HMS no matter what our specialty is, for the presenting symptoms can be found in many different organ systems, and we must listen well to our patients description of their activities. It is necessary to properly interpret range of motion in our patients, for example. It is necessary to prescribe an appropriate management plan, as well. I know on the basis of the patients I see with HMS that this is not done. Many of my HMS patients are treated with inappropriate stretching of lax joints, and not treated at all for the underlying HMS and for many of its comorbidities.