Patients with hypermobility have a significant and often unappreciated risk for osteoporosis.
The prevalence of osteopenia and osteoporosis is very high in this cohort, said Dr. Eric P. Gall, chief of rheumatology and allergy at the Chicago Medical School, North Chicago.
“In my patient population, this is something that I'm well aware of and I tend to screen for osteoporosis sooner rather than later, particularly if there are any other risk factors.” said Dr. Gall during an audioconference on the subject organized by the American College of Rheumatology.
Additional complications of hypermobility include problems with proprioception, osteo- arthritis, mitral valve prolapse, hernias, passing out, palpitations, chest pain, fatigue, and heat intolerance.
“These patients don't just complain of pain in their joints; they complain of lots of things,” he said. “They maybe have headaches and chronic pain. Sometimes pain disrupts their sleep and they get secondary fibromyalgia. [They could have] problems with sexual relations. They may have injuries and [psychological] reactions to the injuries. They have resistance to local anesthetics.”
One of the reasons why hypermobility can be difficult to diagnose is that patients may not always have pain in the affected joints. “If a patient has pain, they protect their joint and develop arthritis in the joint,” he said, reducing range of motion and disguising the hypermobility. (For complete diagnostic criteria of hypermobility, see sidebar.)
One specific type of hypermobile disease is Ehlers-Danlos syndrome, which has 10 subtypes, all characterized by slightly different associated comorbidities and risk factors. One of the most serious of these (type 4) may be fatal, but is also especially rare, with an estimated prevalence of 1 in 250,000, said Dr. Gall. Hallmark signs are vascular aneurysms; bowel and organ rupture; milder hyperextensibility compared with other types; translucent skin; pinched nose; dystrophic scars; and severe ecchymosis, which can often lead doctors to think that the sufferer is being physically abused.
“So how do we manage these people?” asked Dr. Gall. He mentioned that screening for mitral valve prolapse—both by listening and, if indicated, echocardiogram—is very important. “We discourage the hypermobile activities of daily living, although in the musician and the dancer we have to put practicality together … and make compromises.” Additionally, physical therapy can help these patients, as can measures to protect fragile skin. Recurrent dislocations can be treated with surgery, but sutures must be very carefully and closely placed, with “careful hemostasis.” “All [of the patients] who have severe disease are in need of genetic counseling” as well, he added.
Another serious hypermobility disease is Marfan syndrome. The criteria for a Marfan diagnosis is complicated, but Dr. Gall said that from a practical standpoint, if a patient's arm span measures more than 1.1 times his height, that is a good sign that Marfan syndrome may be present.
These patients can suffer complications like scoliosis, pectus excavatum, and pectus carinatum, also known as a “pigeon chest.” “That can be so severe that it actually can compress the heart,” said Dr. Gall. These patients also often have a high, arched palate. “You wouldn't see it unless you looked for it,” he said.
In Marfan syndrome, Ehlers-Danlos syndrome, and all hypermobility disorders, Dr. Gall emphasized that “management is multidisciplinary. People really have to work together as a team: The patient, the rheumatologist, the orthopedist, and the primary care providers all need to work together with the physical and occupational care therapist in dealing with these diseases.
“I have seen more and more [hypermobility] in patients that I see for other things … but you have to look for them; you have to be aware of them,” he said.
Patients with hypermobility often amaze others with their special skill, enabled by their joint laxity, in piano playing, ballet, and athletics. However this gift may become “a danger if we don't manage it appropriately,” he warned.
Dr. Gall said he had no conflicts of interest to disclose in relation to his presentation. The conference was sponsored in part by the following pharmaceutical companies: Genentech Inc., Biogen Idec Inc., UCB Inc., Abbott Laboratories, Amgen Inc., Wyeth Pharmaceuticals, and Hoffman-LaRoche Inc.
Diagnosis RequiresSeveral Criteria
A diagnosis can be made if a patient has both of the major criteria, or if the patient fulfills one major criteria and two minor criteria, or simply has four minor criteria. The Beighton hypermobility score assigns up to 9 points based on a patient's ability to bend and flex certain parts of the body.
Major criteria:
▸ A Beighton score of greater than 4 (out of 9).