A 16-year-old female came to clinic with a history of knee pain for 5 months. She had twisted the right knee during cheerleading practice and despite appropriate rest, exercise and strength building that was overseen by the school trainers, she still was having intermittent knee pain. The pain occurred off and on in both knees, not necessarily concurrently. It seemed worse after a heavier workout. She had pain also intermittently at night that would occasionally awaken her. She denied any swelling, erythema, difficulty walking, stiffness, weight loss, fever, skin or vision changes. Her past medical history was significant for multiple musculoskeletal pain episodes that occurred with exercise. Her mother said, “She always seems to be doing something to herself and is more clumsy. When she is running she easily trips over things.” The social history showed she was an avid cheerleader, dancer and runner. The family history was positive for rheumatoid arthritis and joint hypermobility.
The pertinent physical exam revealed a well-appearing female in no distress, normal vital signs and growth parameters in the 50% (weight) and 95% (height). Eye examination showed no obvious lens abnormalities. Cardiac examination had a regular rate and rhythm without a murmur. Abdomen was negative. Skin had no discolorations, apparent thinness, or stretch marks. Musculoskeletal examination showed no erythema or edema of any joint. She had full range of motion in all her joints and no specific pain could be elicited. She was able to oppose her thumbs to her forearm, hyperextend her 5th fingers, and could place her hands flat on the ground with forward trunk flexion. It was not clear if she could hyperextend her knees or elbows.
The diagnosis of probable generalized joint hypermobility was made. The pediatrician discussed this with the family as well as other possibilities including rheumatological diseases (later blood testing was normal). Because of the risk of Marfan syndrome, an echocardiogram was ordered (later also normal) while the patient was awaiting a genetics consultation appointment for possible Marfan syndrome or Ehlers-Danlos syndrome. The patient was also referred to orthopaedics and physical therapy for education and ongoing management of her current and probable future musculoskeletal problems.
Hypermobility can be seen in several different clinical entities. These include generalized joint hypermobility, joint hypermobility syndrome, Marfan syndrome, Ehlers-Danlos syndrome and Osteogenesis Imperfecta. For adults, a Beighton score of at least 4 or 5 is used as a definition of hypermobility. For children a score of 5 or 6 is used as a definition. (see scoring system below).
Generalized joint hypermobility is hypermobility with few or no symptoms. If they occur, knee symptoms are the most common.
Joint hypermobility syndrome has hypermobility along with other symptoms such as pain, reduced muscle strength, and decreased proprioception and balance.
Joint hypermobility syndrome is diagnosed by:
- 2 major criteria
- 1 major criteria and 2 minor criteria
- 4 minor criteria
- 2 minor criteria and a close relative who has been diagnosed with JHS
- Major Brighton criteria
- Beighton score of four or more – either now or in the past
- Joint pain for > 3 months in 4 or more joints
- Minor criteria
- Beighton score of 1-3, or having a Beighton score of 0-3 if age > 50 years
- Joint pain > three months up to three joints, back pain for longer than three months, or spondylosis or spondylolisthesis
- Dislocation or partial dislocation of > one joint, or the same joint more than once
- > 3 soft tissue injuries – i.e. bursitis, tenosynovitis
- Marfanoid habitus
- Abnormal skin
- Eye symptoms – i.e. ptosis, hyperopia
- Varicose veins, hernia, or uterine prolapse
Beighton tests are clinical maneuvers that are dichotomously scored. A total score from 0-9 is calculated with a higher score being associated with hypermobility.
They have been shown to have high inter-rater reproducibility for adults and children.
Items 1-4 are scored 1 point for each side, item 5 has 1 point only. Add total points for score
1. Passive dorsiflexion of the fifth metacarpophalangeal joint to > or = 90 degrees
2. Passive hyperextension of the elbow to > or = 10 degrees
3. Passive hyperextension of the knee to > or = 10 degrees
4. Passive apposition of the thumb to the flexor side of the forearm, while shoulder is flexed 90 degrees, elbow is extended, and hand is pronated
5. Forward flexion of the trunk, with the knees straight, so that the hand palms rest easily on the floor
Questions for Further Discussion
1. What defines a Marfanoid body habitus?
2. What genetic testing can be done for Marfan syndrome and Ehlers-Danlos syndrome?
3. What physical therapy can patient with hypermobility do to decrease musculoskeletal symptoms?
- Disease: Joint Hypermobility | Joint Disorders
- Symptom/Presentation: Pain
- Specialty: Genetics | Orthopaedic Surgery and Sports Medicine | Physical Medicine and Rehabilitation / Physical Therapy
- Age: Teenager
To Learn More
To view pediatric review articles on this topic from the past year check PubMed.
Evidence-based medicine information on this topic can be found at SearchingPediatrics.com, the National Guideline Clearinghouse and the Cochrane Database of Systematic Reviews.
Information prescriptions for patients can be found at MedlinePlus for this topic: Joint Disorders
To view current news articles on this topic check Google News.
To view images related to this topic check Google Images.
To view videos related to this topic check YouTube Videos.
Remvig L, Jensen DV, Ward RC. Epidemiology of general joint hypermobility and basis for the proposed criteria for benign joint hypermobility syndrome: review of the literature. J Rheumatol. 2007 Apr;34(4):804-9.
Smits-Engelsman B, Klerks M, Kirby A. Beighton score: a valid measure for generalized hypermobility in children. J Pediatr. 2011 Jan;158(1):119-23, 123.e1-4.
Scheper MC, Engelbert RH, Rameckers EA, Verbunt J, Remvig L, Juul-Kristensen B. Children with generalised joint hypermobility and musculoskeletal complaints: state of the art on diagnostics, clinical characteristics, and treatment. Biomed Res Int.2013;2013:121054
National Health System. Joint Hypermobility – Diagnosis. Medscape.
Available from the Internet at http://www.nhs.uk/Conditions/Joint-hypermobility/Pages/Diagnosis.aspx (rev. 9/18/14, cited 1/20/15).
Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa Children’s Hospital