Hypermobility SyndromeDz

Last updated: November 4, 2014

Synonyms: Benign joint hypermobility syndrome.

ICD-9 code: 728.5.
ICD-10: M35.7

Definition: The term hypermobility syndrome, coined by Ansell and Bywaters in 1967, denotes joint symptoms associated with excessive joint laxity, often in individuals with a strong family history of the same. This benign disorder excludes other causes of connective tissue laxity (Ehlers-Danlos syndrome, Marfan’s syndrome, osteogenesis imperfecta) that may result in cutaneous, ocular, or cardiovascular complications.

Etiology: It appears to be a genetically linked disorder of connective tissue. This is suggested by a strong family history. Family members may be asymptomatic yet exhibit the same connective tissue findings on examination.

Pathology: Thin skin with reduction and disorganization of collagen fibers. Alterations in collagen content and type have been reported.

Demographics: Symptoms often begin in children and young adults but may persist throughout adulthood. It is most common in females (60%–85%). Young women often have a history of gymnastics, ballet, dancing, and contortionism and later develop hypermobility syndrome when they resume physical activity. Older individuals can be suspected as having hypermobility syndrome with the onset of premature OA.

Cardinal Features: Symmetric joint pain, stiffness, and fatigue may arise or be aggravated by use. Some experience brief subjective swelling. Overuse and traumatic syndromes occur and may include recurrent sprains, tendonitis, and dislocations. Affected joints include the hands, wrists, elbows, feet, knees, and low back. Localized and asymmetric forms are common. Patients should be examined for hyperextensible joints using Beighton maneuvers (Table 17). Scoliosis, genu valgum, pes planus, and excessive lateral motion of patella or proximal interphalangeal joints are evident on examination. A marfanoid habitus and hyperextensible skin are seen with hypermobility syndrome.

Uncommon Findings: Dysautonomia (autonomic nervous system dysfunction) with complaints of palpitations, chest pains, light-headedness, orthostatic dizziness, and syncope is more common in hypermobility syndrome than matched control patients. Urinary stress incontinence may occur.

1. Passive hyperextension of fifth metacarpophalangeal joint >90 degrees
2. Passive apposition of the thumb to flexor aspect of forearm

Table 17: Diagnostic Criteria for Hypermobility Syndrome
Beighton Criteria: Screening maneuvers for hypermobility
1. Passive hyperextension of fifth metacarpophalangeal joint >90 degrees
2. Passive apposition of the thumb to flexor aspect of forearm
3. Hyperextension of the elbows >10 degrees
4, Hyperextension of the knee >10 degrees
5. Flexing the trunk and placing hands flat on the floor while keeping knees locked/extended
1998 Revised Brighton Criteria for Benign Joint Hypermobility Syndrome
Major criteria
1. Beighton score >4 (of 9) current or historic
2. Arthralgia (>4 joints) for at least 3 mo
Minor criteria
1. Beighton score of 1–3 (0–3 if >age 50 y)
2. Oligoarthralgia, back pain, spondylosis for >3 mo
3. Dislocation/subluxation in >1 joint more than once
4. Soft tissue rheumatism >3 lesions (bursitis, epicondylitis, tenosynovitis)
5. Marfanoid habitus
6. Abnormal skin striae, hyperextensibility of skin, papyraceous scarring
7. Drooping eyelids, myopia, or antimongoloid slant
8.  Varicose veins or hernia or uterine/rectal prolapse
Beighton Criteria: Scores range from 0 to 9: 1 point for each side (metacarpophalangeal, thumb, elbow, knee joints) and 1 point for hands to floor. Diagnosis of hypermobility syndrome requires 4 or more points.
1998 Revised Brighton Criteria for Benign Joint Hypermobility Syndrome Major criteria: Diagnosis requires two major criteria or one major and two minor or four minor criteria or two minor crite- ria with unequivocally affected first-degree relative. These criteria have only been established for adults older than the age of 16 years.

Complications: Although suggested by some studies, it is not clear whether patients with hypermobility have an increased rate of cardiac complications (mitral valve prolapse, other valvular lesions, aortic root disorders, abnormal electrocardiogram).

Imaging: Patients with benign joint hypermobility syndrome have a tendency for osteopenia and premature OA.

Diagnostic Criteria: Brighton criteria have long been used. Recent Brighton criteria expand the ability to make this diagnosis. Ethnic and age variations may allow for as many as 5% to 25% to achieve at least 4 points using the Brighton scale.

Keys to Diagnosis: Hypermobility syndrome is more common in young females. To diagnose the syndrome, Brighton criteria (at least 4 points, but higher is preferred) plus any of the following are required: a similar family history, joint complaints, ligamentous injuries, flatfeet, marfanoid habitus, or easy bruising. Children with fibromyalgia-like complaints should be evaluated for hypermobility syndrome.

Differential Diagnosis: Fibromyalgia, genetic disorders of joint laxity (Ehlers-Danlos syndrome, Marfan syndrome, osteogenesis imperfecta, homocystinuria, pseudoxanthoma elasticum), rheumatic fever, or acromegaly.

Therapy: Patients will benefit from reassurance. Maintenance of low body weight and moderate exercise to maintain extensor muscular and ligamentous support is advised. Modification of daily activities (especially those that provoke) and avoidance of repetitive joint stress are more effective than the use of simple analgesics or NSAIDs. Joint injections should be discouraged.

Prognosis: Some suggestion that patients with hypermobility syndrome are at risk of ligamentous and tendinous injury and may be at risk of premature OA.

Gazit Y, Nahir AM, Grahame R, et al. Dysautonomia in the joint hypermobility syndrome. Am J Med 2003;115:33–40. PMID:12867232
Graham R, Bird HA, Child A. The revised (Brighton 1998) criteria for the diagnosis of benign joint hypermobility syndrome (BJHS). J Rheumatol 2000;27:1777–1779.PMID:10914867
Kirk JA, Ansell BM, Bywaters EGL. The hypermobility syndrome: musculoskeletal complaints associated with generalized joint hypermobility. Ann Rheum Dis 1967;26:419–425.PMID:6039590

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