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Don't underestimate joint hypermobility syndrome.

Once perceived as a predominantly benign condition characterized by joint laxity, hypermobility, and associated musculoskeletal symptoms in otherwise healthy children and adults, joint hypermobility syndrome is now understood to be a multifaceted, multisystemic heritable disorder of connective tissue.

Its range of potential clinical consequences "resonate far beyond the confines of the musculoskeletal system," according to Dr. Rodney Grahame. "There is hardly a clinical specialty to be found that is not touched in one way or another by joint hypermobility syndrome" (JHS), he said. In addition to "loose" joints, other symptoms can include pain, joint clicking, joint instability, skin changes, a range of autonomic disturbances, and muscle deconditioning because of pain avoidance.

INTERNAL MEDICINE NEWS: What are the most important clinical and laboratory features of JHS?

Dr. Grahame: JHS was initially defined in 1967 as the occurrence of musculoskeletal symptoms in the presence of generalized joint hypermobility. Patients usually present with noninflammatory joint and/or spinal pain, recurrent soft tissue injury or overuse lesions, and joint dislocations or subluxations. Over the last decade, it has become evident that chronic pain, dysautonomia, and gastrointestinal dysmotility are frequently encountered complications. In addition to joint hypermobility, key diagnostic features include such skin changes as increased stretchiness, paper-thin scars, striae atrophicae, and features of a marfanoid habitus. There are currently no diagnostic laboratory tests for JHS.

IMN: Early literature described JHS as a mostly harmless condition, but more recent data suggest that the syndrome can have serious clinical consequences. How do these different perspectives affect patient management?

Dr. Grahame: Enormously! In the former view, which is still widely held, hypermobility is largely perceived as a trivial disorder that does not merit serious consideration. Nothing could be further from the truth. Clinicians appear to be frequently unaware of the recent literature concerning systemic complications, so patients' complaints may be discounted. They are often left to "shop around" in vain, searching for a doctor who understands and believes their symptoms and attempts to alleviate them (Nat. Clin. Pract. Rheumatol. 2008;4:522-4). By contrast, the identification and recognition of features of a heritable disorder of connective tissue (HDCT) are much more likely to attract serious attention. Unfortunately, rheumatologists may not be familiar with the HDCTs, so the care of these patients may pass to clinical geneticists, who have enormously wide knowledge but who are not trained in rheumatology.

IMN: How can clinicians distinguish JHS from other HDCTs, such as Ehlers-Danlos syndrome?

Dr. Grahame: The debate as to whether JHS and Ehlers-Danlos syndrome-hypermobility type (HEDS) are one and the same has raged for 40 years. Gradually, as incontrovertibly convincing evidence has appeared, it has become obvious that JHS and HEDS are either truly identical, or if not identical, at least indistinguishable from one another (Am. J. Med. Genet. A 2009;149A:2368-70).

It is clearly incumbent on all clinicians to be aware of the more serious HDCTs such as Marfan syndrome and Ehlers-Danlos syndrome-vascular type (VEDS), which carry the risk of life-threatening complications, such as aortic aneurysm formation in the case of Marfan's, and arterial, visceral, or uterine rupture in the case of VEDS. Both VEDS and Marfan's have recognizable phenotypic features and their identification has been facilitated in recent years by genetic testing. Eliciting a careful personal and family history is all-important. This entails seeking out detailed information on close family members, and in particular, those who may have died unexpectedly or sud- denly early in life. The advent of the echocardiogram has been a major step forward in spotting early aortic root dilatation at a time when surgical intervention can be lifesaving. Examining the eye by slit-lamp is another useful tool in helping to exclude ocular evidence of Marfan's.

IMN: What are some of the most important management considerations?

Dr. Grahame: Hypermobile subjects should be encouraged to achieve maximal fitness at all ages as a means of avoiding many of the musculoskeletal lesions to which they are predisposed by virtue of their fragile tissues. Having strong muscles helps to improve proprioception, stabilize core muscle groups and unstable joints, and improve stamina.

Chronic pain in JHS generally does not respond well to analgesic medications, but pain management using cognitive-behavioral methods has enabled many patients to return to a reasonable quality of life. Surgery should be undertaken only after careful consideration of the risks of delayed healing, after the anticipated impact on outcome of a connective tissue disorder has been considered, and when conservative alternative nonsurgical treatments are not available.

-Interview by Diana Mahoney

Dr. GRAHAME is a consultant rheumatologist at University College Hospital, London. He disclosed having no conflicts of interest.
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Title Annotation:ASK THE EXPERT
Author:Mahoney, Diana
Publication:Internal Medicine News
Article Type:Interview
Geographic Code:4EUUK
Date:Dec 1, 2010
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