Although perceived as a rare condition, joint hypermobility syndrome is common. Its prevalence in rheumatology clinics is extremely high. Early estimates suggest that it may be the most common of all rheumatologic conditions. The problem lies in the general lack of awareness of the syndrome, its means of recognition, and the resultant failure to diagnose it correctly when present. It is a worldwide problem. This article provides an overview of hypermobility and hypermobility syndrome, stressing its multisystemic nature and the negative impact that it may have on quality of life, with particular reference to gastrointestinal involvement.
Key points
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Joint hypermobility syndrome is a common, heritable disorder of connective tissue that is frequently overlooked.
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It is almost certainly identical to the Ehlers-Danlos Syndrome, hypermobility type.
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It is not a trivial articular problem occurring in healthy individuals; it is now recognized as a multisystemic disorder and a major source of chronic widespread pain, dysautonomias, and gastrointestinal dysmotility. It is a neglected area within rheumatology.
Introduction
Most rheumatologists have a basic appreciation of joint hypermobility (JH). They know that the term refers to the increased passive or active movement of a joint beyond its normal range. They are familiar with the 9-point Beighton score and many see this as the gold standard for recognizing JH. On an all-or-none basis, it signals the flexibility of 5 body areas (spine/hips and paired elbows, fifth metacarpophalangeals, thumb/wrists, and knees) as shown in Table 1 , but takes no account of the rest. The maximum score is 9 out of 9. Higher scores do not represent greater degrees of JH, merely the number of joints affected out of a limited selection. A score of 4 or more out of 9 is arbitrarily considered to show the presence of generalized JH. However, it was introduced as an instrument for epidemiologic research; it was never intended to become a tool for clinical diagnosis. It is with the interpretation of hypermobility that most rheumatologists have difficulties. The wherewithal to establish a definitive differential diagnosis and thereby to develop an appropriate management plan is often lacking. This article is intended to assist colleagues in this critical task.
| The Ability to: | Right | Left |
|---|---|---|
| (1) Passively dorsiflex the fifth metacarpophalangeal joint to ≥90° | 1 | 1 |
| (2) Oppose the thumb to the volar aspect of the ipsilateral forearm | 1 | 1 |
| (3) Hyperextend the elbow to ≥10° | 1 | 1 |
| (4) Hyperextend the knee to ≥10° | 1 | 1 |
| (5) Place hands flat on the floor without bending the knees | 1 | |
| TOTAL | 9 | |
Introduction
Most rheumatologists have a basic appreciation of joint hypermobility (JH). They know that the term refers to the increased passive or active movement of a joint beyond its normal range. They are familiar with the 9-point Beighton score and many see this as the gold standard for recognizing JH. On an all-or-none basis, it signals the flexibility of 5 body areas (spine/hips and paired elbows, fifth metacarpophalangeals, thumb/wrists, and knees) as shown in Table 1 , but takes no account of the rest. The maximum score is 9 out of 9. Higher scores do not represent greater degrees of JH, merely the number of joints affected out of a limited selection. A score of 4 or more out of 9 is arbitrarily considered to show the presence of generalized JH. However, it was introduced as an instrument for epidemiologic research; it was never intended to become a tool for clinical diagnosis. It is with the interpretation of hypermobility that most rheumatologists have difficulties. The wherewithal to establish a definitive differential diagnosis and thereby to develop an appropriate management plan is often lacking. This article is intended to assist colleagues in this critical task.
| The Ability to: | Right | Left |
|---|---|---|
| (1) Passively dorsiflex the fifth metacarpophalangeal joint to ≥90° | 1 | 1 |
| (2) Oppose the thumb to the volar aspect of the ipsilateral forearm | 1 | 1 |
| (3) Hyperextend the elbow to ≥10° | 1 | 1 |
| (4) Hyperextend the knee to ≥10° | 1 | 1 |
| (5) Place hands flat on the floor without bending the knees | 1 | |
| TOTAL | 9 | |
Recognizing hypermobility
The 5-Point Questionnaire
JH can also be identified reliably with the use of the 5-point questionnaire, which is a simple statistically validated questionnaire that accurately predicts the presence of hypermobility according to the individual’s response to 5 questions. It has an 84% sensitivity and an 80% specificity when 2 or more questions are answered in the affirmative ( Box 1 ). This questionnaire is particularly useful as a screening tool when the person is not present or available for examination. It is easy and quick to complete, and therefore a useful research tool. It has been successfully used to estimate the heritability of hypermobility in a twin study.
- 1.
Can you now (or could you ever) place your hands flat on the floor without bending your knees?
- 2.
Can you now (or could you ever) bend your thumb to touch your forearm?
- 3.
As a child, did you amuse your friends by contorting your body into strange shapes or could you do the splits?
- 4.
As a child or teenager, did your kneecap or shoulder dislocate on more than 1 occasion?
- 5.
Do you consider yourself ‘double-jointed’?
Hypermobility Syndrome
Hypermobility syndrome (HMS; later termed joint hypermobility syndrome [JHS]) is a poorly understood clinical entity, the nature of which has changed almost beyond recognition since it was first described by Kirk and colleagues in 1967. It was originally conceived as the occurrence of musculoskeletal symptoms in the presence of generalized joint hypermobility. These early workers in the field (being eminent rheumatologists) thought of it as a purely rheumatologic disorder that occurred in healthy individuals who happened (by chance) to be at the upper end of the spectrum of normal joint mobility. Although in their discussion they considered the alternative interpretation, namely that these individuals might have a heritable disorder of connective tissue (HDCT) akin to Ehlers-Danlos syndrome (EDS) or Marfan syndrome (MFS), they rejected it outright, without stating their reasons for doing so, carrying with them most of the rheumatologic community worldwide. It has taken nearly half a century to set the record straight. This realization arose from the steady acquisition by a handful of interested investigators of new knowledge that gradually accrued during the second half of the twentieth century. It started in the 1980s, with the observation that patients with JHS showed phenotypic overlap with patients with other HDCTs, notably with skin and skeletal manifestations, so that JHS began to seem more and more like EDS type III than a seemingly trivial rheumatologic disorder occurring in healthy people, as it was widely perceived. This change was swiftly followed by the revelation that gynecologic abnormalities arising from pelvic floor weakness, such as uterine prolapse, were frequently found among women with JHS. In the 1990s, the focus moved to the further revelations that chronic pain and dysautonomia were also becoming recognized as complications associated with JHS. It is only in the last decade that interest has focused on the gastrointestinal (GI) tract with the discovery of a strong association between JHS and functional disorders of the GI tract (functional GI disorders [FGID]).
Recognizing Hypermobility Syndrome: the Brighton Criteria for JHS
The Beighton score identifies JH but not the symptoms that may have arisen as a result of it. It could, therefore, never be used to diagnose JHS. Thus, before 2000, there was no reliable way of identifying the syndrome other than by using the 1967 definition, which was too inclusive to be of use for this purpose, and therefore research was hampered by the lack of any means of defining the phenotype or classifying the syndrome. The Brighton criteria were conceived in the 1990s and published in 2000 for the purpose of addressing this need. Like its predecessors, the Ghent criteria for MFS and the Villefranche criteria for EDS, the Brighton criteria comprise major and minor criteria and incorporated the Beighton score and, in addition, included the principal symptoms, notably joint/spinal pain, dislocations, soft tissue lesions, as well as overlap features of connective tissue disorder such as hernias, uterine/rectal prolapse, marfanoid features, and skin changes. The full criteria are shown in Box 2 . The diagnosis of JHS should always be considered against the background of the other HDCTs, and the clinician must be alert to the wider differential diagnosis, so that a working knowledge of the clinical features including prognosis and availability, or otherwise, of genetic testing of the other major HDCTs, such as MFS, EDS (other than type III), and osteogenesis imperfecta (OI) is important ( Fig. 1 ). There is currently no genetic test or other biological marker for EDS III or JHS. A recent guide to the diagnosis of HDCTs written from a rheumatologist’s perspective may assist readers in this task.
Major criteria
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A Beighton score of 4/9 or greater (either currently or historically)
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Arthralgia for longer than 3 months in 4 or more joints
Minor criteria
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A Beighton score of 1, 2, or 3/9 (0, 1, 2, or 3 if aged 50 years or older)
- 2.
Arthralgia in 1 to 3 joints or back pain or spondylosis, spondylolysis/spondylolisthesis
- 3.
Dislocation in more than 1 joint, or in 1 joint on more than 1 occasion
- 4.
Three or more soft tissue lesions (eg, epicondylitis, tenosynovitis, bursitis)
- 5.
Marfanoid habitus (tall, slim, span > height, upper segment/lower segment ratio less than 0.89, arachnodactyly)
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Skin striae, hyperextensibility, thin skin, or abnormal scarring
- 7.
Eye signs: drooping eyelids or myopia or antimongoloid slant
- 8.
Varicose veins or hernia or uterine/rectal prolapse
JHS is diagnosed in the presence 2 major criteria, or 1 major and 2 minor criteria, or 4 minor criteria. Two minor criteria suffice if there is an unequivocally affected first-degree relative. JHS is excluded by presence of MFS or EDS (other than the EDS hypermobility type, formerly EDS III) as defined by the De Paepe 1996 and Beighton 1998 criteria respectively.
