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CLINICAL PRESENTATION

While joint hypermobility is very common, occurring in 10-20% of populations of Western countries, and higher still in those in Indian, Chinese, and Middle Eastern groups, it is important to distinguish between joint hypermobility and Joint Hypermobility Syndrome.¹⁹ People who are hypermobile without symptoms are merely people with hypermobility. Those with symptoms attributable to their hypermobility may have JHS if they conform to the Brighton criteria.

While hypermobility with arthralgias (joint pain), may sound rather benign, JHS is typically a multi-system disease that can be quite disabling. In one study out of the University of Manchester involving 125 children with JHS, 74% had arthralgia, 13% speech difficulties, 14% learning difficulties, 12% urinary tract infections 10% subluxation/dislocations of joints, while 48% had limitations of school-based physical education activities, and 67% difficulties in other physical activities.²⁰ Because of deconditioning, children with JHS have been found to have a significantly decreased maximal exercise capacity compared with age and gender-matched control subjects.²¹ Another study linked an increased prevalence of migraine headaches with JHS.²² It is not uncommon for patients with JHS to go 10 years or more before getting appropriately diagnosed.²³ One reason for this is doctors and others are trained to examine for reduction of joint mobility rather than for an increased range, so that hypermobility is commonly missed. When hypermobility is sought it is the most common finding among patients presenting to a rheumatologist, but more often than not, is overlooked.²⁴ Nearly one-half of rheumatologists are skeptical about the significant impact that JHS has on people’s lives, and about three-quarters are skeptical about a significant contribution to the overall burden of rheumatic diseases.²⁵ Besides arthralgias, generalized joint laxity, the hallmark of the HDCTs, including JHS, is a significant risk factor for conditions such as joint dislocations, temporomandibular disorders, pathologic disc degeneration, diffuse idiopathic skeletal hyperostosis, osteoarthritis, as well as joint injury during sports.^26-30

Typical clinical manifestations of JHS and EDS are abnormalities of the skin, joint hypermobility, recurring joint dislocations, and arthralgia. Skin abnormalities can include thin, transparent skin, significant skin hyperelasticity, easy bruising, poor wound healing, and atrophic “cigarette paper” scars. Joint symptoms, which represent some of the more severe aspects of these conditions, range widely; however, the most frequent complaints are joint pain and dislocations. Patients with JHS often say that they are “double jointed” or that they can contort their bodies into strange shapes (i.e. voluntary subluxations) or do the splits. Many JHS patients have signs and symptoms suggestive of fibromyalgia and are usually misdiagnosed.³¹ These patients present with a wide variety of readily identifiable traumatic and overuse lesions, such as traction injuries at tendon or ligament insertions, chondromalacia patella, rotator cuff lesions, or back pain due to soft tissue injury or disc herniation. Others suffer the effects of joint instability, such as flat feet, recurrent dislocation or subluxation-notably of the shoulder, patella, metacarpophlangela joints, or temporomandibular joints. Others still, develop a chronic degenerative arthritis that may be a direct complication of JHS (See Figure 4.) For those who suffer from dislocation of joints, the pain can be immense, and sometimes is the first indication a patient has hypermobile joints. Many hypermobile patients also experience myofascial pain, which may be explained by the extra stress placed on muscles to compensate for lax joints as the muscles attempt to stabilize the joints.

One of the more serious long-lasting affects of joint laxity is chronic joint degeneration. The increased mechanical stress caused by ligament laxity leads to chronic joint instability, making them more susceptible to soft tissue injuries. Continual instability and injury leads to an earlier onset of degenerative joint disease in hypermobile and other patients with ligament injuries than in the normal population.^32-34

While the signs of a typical HDCT may be present, including scoliosis, pes planus, genu valgu, lordosis, patellar subluxatin or dislocation, marfanoid habitus, varicose veins, rectal or uterine prolapsed, or thin skin, often the only manifestation are hypermobile joints. Because young children are generally very flexible, the presence of a hypermobility disorder can go undiagnosed for years; joint symptoms often will not surface until adolescence as the patient becomes more active and prone to dislocation and injury.

There is an urgent need to increase the awareness of JHS and spectrum of HDCTs. These are prevalent conditions that are frequently undiagnosed and that can cause significant health problems. Beside recurrent musculoskeletal problems and signs and symptoms derived from tissue fragility, adolescents and young adults may develop osteoporosis, early osteoarthritis or dysautonomia, that are common in the disease and deteriorate quality of life. Doctors may be unaware of the prevalence of the condition, its effect on quality of life or its multisystemic nature, and may not routinely look for hypermobility in the clinical examination, especially as the condition rarely forms part of the curriculum in medical schools or in postgraduate training programs.^35-37

The erroneous view that hypermobility is a variant of normality, rather than part of an inherited connective tissue disorder is still widely held. If joint hypermobility syndrome and the other inherited connective diseases are missed on a physical examination the following problems may arise:

• Inappropriate and potentially harmful labeling or treatments may be applied on the basis of an erroneous diagnosis such as fibromyalgia, degenerative disc disease, hypochondriasis, or degenerative arthritis.
• Overzealous physical manipulation which make hypermobile joints even more lax.
• Orthopaedic operations may be done without the surgeon knowing the patient has an underlying connective tissue disorder, which may lead to poor outcomes.
• Chronic pain may lead to a potentially reversible downward spiral of immobility, deconditioning, dependency, and despair. Out of 700 patients with JHS attending the UCH Hypermobility clinic, 168 were experiencing serious pain, disability and impairment of their quality of life, some patients becoming chairbound or even bedbound.³⁸

While hypermobility may be generalized or extreme in a small number of joints, it is important for pain physicians to recognize when it is present. Besides knowing the Brighton criteria, based on determination for the Beighton Score, comparing a patient’s joint range of motion compared with normal ranges for age and sex can give a clinician a clue that joint hypermobility is present. There are other common clues in both children, adolescents and adults that suggest Joint Hypermobility Syndrome is present. Some of the clues that a patient has joint hypermobility include: recurrent joint dislocations, frequent ankle sprains, child with poor ball catching and handwriting skills, premature osteoarthritis, as well as laxity in other supporting tissues. (See Figure 5.) A small proportion of patients with generalized joint hypermobility will have one of the more serious conditions such as Ehlers-Danlos Syndrome, Marfan Syndrome or Osteogenesis Imperfecta. When these more serious conditions are considered, a referral is made to a geneticist or other clinician for genetic testing, skin biopsy or diagnostic tests, such as an echocardiogram to look for valvular defects, or other diagnostic tests on other organs to search for signs of a multisystem connective tissue disorder. It is important to differentiate JHS from the Vascular Ehlers-Danlos Syndrome, for instance, to prevent life threatening vascular hemorrhages from arterial ruptures in the latter condition.