Joint hypermobility syndrome: the most frequent cause of pain in rheumatological practice?

Zosia Chustecka

October 15, 2004

Oct 15, 2004

In this new rheumanation, Dr Jaime Bravo relates his personal experience with joint hypermobility syndrome. An interview by Zosia Chustecka.

Joint hypermobility syndrome (JHS) is probably the most frequent cause of pain in rheumatology practice, but it is rarely diagnosed. "Physicians do not give this condition its proper importance," says Dr Jaime Bravo (Clinica Arauco, Santiago, Chile).

Bravo has taken a special interest in these patients, and over the past 4 years has seen more than 600 adults with this condition. He approached JointandBone.org to share his experience with other readers and to alert fellow physicians to JHS as a possible diagnosis in patients who present with recurrent musculoskeletal pain. "This is a subject very close to my heart," he says. He hopes that spreading the word about the syndrome will benefit individuals who are still undiagnosed.

Although there is no specific treatment for JHS, individuals who are affected can be given advice about lifestyle, sports, and hobbies and offered physical therapy as well as drug therapy for some of the symptoms. All of these can improve quality of life for patients, he says. Often just making the correct diagnosis can alleviate worry and may prevent incorrect treatment. Bravo says his patients frequently don't have a diagnosis, even after having seen many physicians, or they may have been told, incorrectly, that they have fibromyalgia or chronic fatigue syndrome.

"I think rheumatologists need to make an effort to identify and diagnose the very frequent cases of JHS," Bravo says. It accounts for more than 34% of his private rheumatological practice in Santiago, Chile, and he notes that a group of Spanish doctors have reported finding it in 25% of their practice [ 1 ]. "It is also the most frequent cause of recurrent tendonitis, sprains, and tendon and muscle tears among our children, adolescents, young adults, and even professional gymnasts and sportspeople," Bravo says.

Hypermobile joints are often viewed as a curiosity, a party trick, but "double-jointedness" and clicking joints should trigger off questions about other symptoms, which together may indicate that the person has JHS. Not all individuals with hypermobile joints have this syndrome, Bravo points out, but those with laxity of the joints and other symptoms do. What makes the diagnosis even more difficult is that someone may have only 1 or a few lax joints (or may not even realize that he or she has hypermobility) and still have JHS, he comments.


Time to take hypermobility seriously

Bravo says he has been greatly influenced by the writings of Prof Rodney Grahame (University College Hospital, London, UK) and in particular praises his book on the subject, Hypermobility Syndrome: Recognition for Physiotherapists [ 2 ]. He also supports the sentiments in an editorial in Rheumatology [ 3 ] a few years ago, in which Grahame made the plea for hypermobility to "be taken seriously."

"There is now abundant evidence from papers published in peer-reviewed journals in many countries to demonstrate the serious impact that hypermobility can have on people's lives," Grahame wrote, adding that "there is no longer (if there ever was) any justification for regarding hypermobility merely as a circus act."

"If doctors would only take the trouble to look for joint hypermobility and other stigmata of JHS in the course of their routine examination of the locomotor system . . . the condition would certainly be diagnosed more frequently," Grahame commented.

Below, Bravo outlines the signs and symptoms that he looks for to reach the diagnosis and shares some of his personal observations about patients with this syndrome.


Not only joints-many other signs

JHS is now considered to be part of a spectrum of hereditary diseases of connective tissue (HDCT), caused by mutations in genes coding for proteins involved in connective-tissue metabolism, Bravo explains. The classical HDCT include Ehlers-Danlos syndrome (EDS), Marfan syndrome (MS), and osteogenesis imperfecta (OI). JHS is a forme fruste of these and has some of the features seen in them, although to a lesser degree--JHS seems to be a much milder but a tremendously more frequent variation, he comments.

Diagnosis is made according to a list of criteria. In the past, it was the Beighton scoring system for hypermobile joints (see sidebar). However, in recent years the recognition that systems other than the joints are also affected led to the drawing up of the Brighton Criteria (by Grahame et al in 2000), which incorporate Beighton but also take into consideration many other symptoms. The Brighton Criteria [ 5 ] were hailed as a landmark when announced and since then have become the standard for the diagnosis of JHS.



Brighton Criteria for diagnosis of benign joint hypermobility syndrome (BJHS)

- Major criteria

  1. A Beighton score of 4/9 points or greater (either currently or historically).*

  2. Arthralgia lasting 3 months or longer in 4 or more joints.

*Beighton score [ 6 ]


- Minor criteria

  1. A Beighton score of 1/9, 2/9, or 3/9. If aged 50 or more, 1 point is given even if the score is 0/9.

  2. Arthralgia of 1 to 3 joints or back pain, both lasting for 3 months or more; spondylosis, spondylolysis, or spondylolisthesis.

  3. Dislocation or subluxation in more than 1 joint, or in 1 joint on more than 1 occasion.

  4. Soft tissue rheumatism: 3 or more lesions (eg, epicondylitis, tenosynovitis, bursitis).

  5. Marfanoid body shape (tall, slim, span/height ratio > 1.03, upper/lower segment ratio less than 0.89, arachnodactyly).

  6. Abnormal skin: striae, hyperextensibility, thin skin, papyraceous scarring.

  7. Eye signs: drooping eyelids or myopia or antimongoloid slant.

  8. Varicose veins or hernia or uterine/rectal prolapse (either currently or historically).

BJHS is diagnosed in the presence of 2 major criteria, 1 major and 2 minor criteria, or 4 minor criteria; 2 minor criteria will suffice where there is an unequivocally affected first-degree relative. The first major criterion and first minor criterion are mutually exclusive as are the second major criterion and second minor criterion. BJHS is excluded by presence of EDS or MS.

A patient with positive Brighton criteria can be diagnosed as having JHS if even though the Beighton Score is negative (3 points out of 9 or less). (To have a positive Beighton score it is necessary to have at least 4 points of a possible total of 9.)

Each of the following counts for 2 points if bilateral; reaching the floor is 1 point:

  • Hyperextension of elbows, 10 degrees or more.

  • Touch passively, the forearm with the thumb, while wrist is in flexion.

  • Passive extension of the fifth finger, more than 90 degrees.

  • Hyperextension of the knees, of 10 degrees or more (genu recurvatum).

  • Touch the floor with the palms, when bending over with knees extended.


Bravo says he uses these Brighton criteria to assess all of the patients he suspects of having JHS and comments that he was asked by Grahame to talk about how he uses them at last year's American College of Rheumatology (ACR) meeting in Orlando, FL. He has also submitted an abstract describing 230 JHS patients to the forthcoming ACR meeting in San Antonio, TX. Bravo also elaborates on his work on his own website [ 7 ].


Every patient with joint or muscle pain should be tested

Every patient presenting with joint and/or muscle pain should be tested against the Brighton criteria, as should patients who have been previously labeled as having fibromyalgia and chronic fatigue syndrome. "My impression is that many patients who have been diagnosed with fibromyalgia actually have JHS," he says. "To me, there is no coincidence that the 'tender-points sites' described for fibromyalgia are exactly the areas of enthesis, tendonitis, and bursitis that are recurrent problems in patients with JHS [ 8 ]." Furthermore, he says, the chronic fatigue seen in fibromyalgia is also seen in some patients with JHS, but in this case it is caused by dysautonomia [ 9 ].

JHS should be considered in any patient who is presenting with recurrent episodes of arthralgia, tendonitis, bursitis, or back pain, as well as in any individuals who report having "double joints" or dislocations or say that they feel as if the joint (hip, knee, elbow, shoulder) is "going to give way," Bravos says. He also suggests asking detailed questions about childhood, probing for a history of flat feet, rotated knees, scoliosis, hip dysplasia, and umbilical hernia, and asking patients about their agility as a child and whether they did ballet or gymnastics. "It's also useful to ask whether their joints make cracking noises and whether they bruise frequently and for no good reason," he says. "I am always suspicious if I know that a family member has similar problems," he adds, as the condition has autosomal dominant inheritance.

Since the syndrome can affect any organ that has collagen fibers, the symptoms and signs can appear in different organs and systems. For example, the skin can be rather transparent, with veins being very prominent. "It also feels different from normal skin, it feels soft and humid, like velvet, and is quite noticeable on shaking hands," Bravo says.

Due to the fragility of the tissues, and depending on which are affected and how, different complications may arise. Patients can have problems with tendons (tendonitis, mitral valve prolapse), cartilages (early osteoarthritis, Tietze syndrome), fibrocartilages (meniscal tears, spinal disk disease, pubalgia), and bones (significant osteopenia and osteoporosis). Bravo notes that he has found osteoporosis in 26% of his 230 cases, even in young males. Dilated tissues can lead to varicose veins, arterial aneurisms, or cysts, while weakness of the tissues can led to constipation, diverticulosis, or vaginal or rectal prolapse.

With his wide experience with JHS patients, Bravo also feels that he has come to recognize a "phenotype" that has not been described before. Patients often have ear and nose abnormalities, he notes. The ears may be protruding, small, or without lobes; may look like "Dumbo ears" or "Mr Spock ears"; or may have a kidney shape, etc. The nose may have a bump where the cartilage and bone meet. Many women patients have already had cosmetic surgery to reduce such features.

Also, the tissue of the sclera can be transparent, so that the whites of the eyes have a bluish tinge. "It's infrequent to see this in the males (19%), but among the females, 77% have blue sclera," he says, adding that the color can be quite striking. Bravos says that with his experience of more than 600 patients, he can now grade the degree of blue sclera in 1, 2, or 3 pluses (mild, moderate, or marked). "This is like a yellow tinge indicating jaundice," he comments, and he recalls from his student days that Prof Rodolfo Armas at his teaching hospital in Santiago, Chile, was so experienced in treating jaundiced patients that he could guess the degree of jaundice by looking at the patient's eyes and be confirmed right in every case by blood tests.

Another clue can be the body shape, which in 11% of his cases is marfanoid--slender but ungainly, with long necks and long arms; the individual may have also scoliosis or flat feet. "It's particularly noticeable in Chile, where we tend to be short," Bravos comments.


Dizziness and fatigue

One result of poor tone in the veins in the lower extremities can be chronic fatigue and dizziness. Weakness of collagen fibers in the veins leads to a pooling of the blood, leading to orthostatic hypotension and this, coupled with a vasovagal imbalance, can result in dysautonomia, Bravo notes. These patients present with chronic fatigue, dizziness, and even syncope and have cold intolerance and low blood pressure. "They look pale and aren't interested in participating in social activities, because they have no energy or enthusiasm," Bravo comments. "They complain of somnolence and fatigue that gets worse as the day progresses. They say that they feel as if 'their batteries have become discharged,' and this is especially noticeable when they have been standing without moving the feet or walking slowly, especially in the malls or in the supermarket."

Dysautonomia is seen frequently among patients with JHS, Bravos says--he finds it in 23% of cases in his experience. As he explains in one of his articles [ 9 ], it can be confirmed with a tilt test and can be treated with advice on lifestyle and diet (eg, increasing salt and water intake, resting after eating, and when fatigued using elasticized stockings), as well as with drugs used for low blood pressure, such as a mineral corticoid, beta blocker (propanolol), or midodrine, and occasionally an antidepressant such as fluoxetine or sertraline. These steps can make a big difference to the quality of life of these patients, Bravos says, and even an explanation of what causes these symptoms and why they appear is useful, as it helps patients to deal with them.


Correct diagnosis can prevent future damage

Making the correct diagnosis of JHS [ 10 ] can prevent future damage in affected individuals, Bravo says. These people should avoid certain contact sports and hobbies--for instance, karate and skateboarding, because of the high risk of joint injuries. Some adolescents have recurrent tendonitis, subluxations, bursitis, and sprains while playing volleyball or basketball. To explain to patients the idea of having weak collagen, he uses the example of a person lifting a heavy box and getting a hernia--"it's not that the box is too heavy, it's that the tissues are weak." He encourages patients to take gentler forms of exercise, such as swimming, Pilates, and yoga.

Sources

1. Guma M, Olive A, Holgado S, et al. Una estimacion de la laxitud articular en la consulta externa. Rev Esp Reumatol 2001; 28:298-00.

2. Keer R and Grahame R. Hypermobility Syndrome. Recognition and Management for Physiotherapists. New York: Butterworth Heinemann Health; 2003.

3. Grahame R. Time to take hypermobility seriously (in adults and children) Rheumatology 2001; 40:485-91.

4. Bravo JF, Arteaga MP, Coelho L. Utility of bone scyntigraphy in the study of hereditary diseases of connective tissues (HDCT). Alasbimn J 2003; 6(22) Available: at http://www2.alasbimnjournal.cl/alasbimn/

5. Grahame R, Bird HA, Child A, et al. The revised (Brighton 1998) criteria for the diagnosis of BJHS. J Rheumatol 200; 27:1777-79.

6. Beighton PH, Solomon L, Soskolne CL. Articular mobility in an African population. Ann Rheum Dis 1973;32:413-18 .

7. Bravo JF. Personal website: http://www.reumatologia-dr-bravo.cl

8. Bravo JF. Importancia de la hipermovilidad articular como causa frecuente de morbilidad, no solo musculo-esqueletica, sino tambien sistemica: criterios diagnosticos. Reumatologia 2003;19 (1):33-38.

9. Bravo JF. Disautonomia: Un problema medico poco conocido. Bol Hosp S J de Dios 2004; 51:64-66.

10. Bravo JF. Sindrome de Hipermovilidad Articular. Como diferenciarlo de las otras Alteraciones Hereditarias de la Fibra Colagena. Reumatolog¿a 2004; 20(1):24-30.


 

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