Hypermobility Syndrome

Original Editors - Free Picke

Top Contributors - Julie Schuermans, Emma Guettard, Free Picke, Blondeel Jonathan and Simisola Ajeyalemi   Read more.


Definition/Description

The hypermobility syndrome(HMS) was first described in 1967 by Kirk et al as the occurrence of musculoskeletal symptoms in hypermobile in healthy persons.[1] Meanwhile, other names are given to HMS, such as joint hypermobility syndrome and benign hypermobility joint syndrome. HMS is a dominant inherited connective tissue disorder described as “generalized articular hypermobility, with or without subluxation or dislocation.[2]The primary symptom is excessive laxity of multiple joints. [3]

Hypermobility syndrome is different from localized joint hypermobility and other disorders that have generalized joint hypermobility, such as Ehlers-Danlos Syndrome, Rheumatoid Arthritis, Systemic Lupus Erythematosus, and Marfan Syndrome.[3] HMS may occur also in chromosomal and genetic disorders such as Down syndrome and in metabolic disorders such as homocystinuria and hyperlysinemia.[4] Laboratory tests are used to exclude these other systemic disorders when HMS is suspected.[3]

Clinically Relevant Anatomy

The pathophysiology in Hypermobility Syndrome is not yet fully understood, it appears to be a systemic collagen abnormality. The abnormality in collagen ratios is related with joint hypermobility and laxity of other tissues. The ratio of collagen (type I,II and III) is decreased in the skin. The diagnostic criteria for HMS includes joint abnormalities but it also affects cardiac tissue, smooth muscle in the female genital system and the gastrointestinal system. HMS also affects the joint position sense.[3]

Epidemiology /Etiology

Joint hypermobility happens most often in children and reduces with age.[5] Joint mobility is highest at birth, there is a decrease in children around nine to twelve years old.
In adolescent girls, there is a peak at the age of fifteen years, after this age the joint mobility decreases, as well in boys as in girls. [6]Hormonal changes that occur in puberty by adolescent girls, will influence the joint mobility.[6]
In general, hypermobility is more common in children than adults, is more common in girls than in boys [7], more common in Asian, African and middle eastern people. [4]

Characteristics/Clinical Presentation

Possible Neuromusculoskeletal signs in individuals with hypermobile joint syndrome:

  • Acute or Traumatic sprains: - recurrent ankle sprains
  • Meniscus tears
  • Joint instability[3]: Acute or recurrent dislocations or subluxations[6] of the shoulder, patella, meta-carpo-phalangeal joint and temporo-mandibular joint
  • Traumatic arthritis[5]
  • Bruising
  • Fractures: chronic or non-traumatic
  • Soft tissue rheumatism-tendinitis[6], epicondylitis, rotator cuff syndrome, synovitis, juvenile episodic synovitis, bursitis
  • Chondromalacia
  • Scoliosis
  • Fibromyalgia[5]
  • Chronic fatigue syndrome[3],[5]
  • Nerve compression disorders- Carpal Tunnel Syndrome, Tarsal Tunnel Syndrome, Acroparesthesia, Thoracic Outlet Syndrome
  • Raynaud syndrome
  • Flat feet and sequelae
  • Unspecified arthralgia or effusion of affected joint(s)- (foot, ankle, knee, hip, back, neck, shoulder, elbow, wrist, finger)[6]
  • Back pain[2],[6]
  • Osteoarthritis
  • Delayed motor development
  • Congenital hip dislocation
  • Exercise-related/post-exercise-related pains[2]
  • Nocturnal leg pains[2]
  • Low nocturnal sleep quality[8]
  • Joint swelling[2]
  • Clumsiness[2]
  • Enhanced flexibility[3]
  • Chronic pain[3]
  • Little changes of the skin[8],[3]
  • Greater risk in failures in tendon, ligament, bone, skin and cartilage[4]
  • Functional gastro-intestinal disorders[5]
  • Chronic headache[3],[5]
  • Immune system dysregulations[5]
  • Pelvic dysfunction[5]
  • Cardio-vascular dysautonomia[5]
  • Exocrine glands dysfunction[5]
  • Ankylosing Spondylitis[5]



Differential Diagnosis

The signs and symptoms of hypermobility syndrome are variable. Most commonly, the initial complaint in a hypermobile patient is joint pain, which may affect one or multiple joints and may be generalized or symmetric. Primary care physicians can use the five simple questions to aid in recognizing hypermobility.[4] Other complaints are muscle cramps[4]( after physical activity) and joint stiffness. People with HS can suffer from subluxations and dislocations. [9]


Diagnostic Procedures

Brighton criteria

Major Criteria:

  1. Beighton Score of ≥ 4/9
  2. Arthralgia for > 3 months in > 4 joints

Minor Criteria:

  1. Beighton score of 1–3
  2. Arthralgia in 1–3 joints
  3. History of joint dislocation
  4. Soft tissue lesions >3
  5. Marfan-like habitus
  6. Skin striae, hyperextensibility or scarring
  7. Eye signs, lid laxity
  8. History of varicose veins, hernia, visceral prolapse

For a diagnosis to be made either both of the major criteria must be present or 1 major and 2 minor or 4 minor.[10]

Requirement for diagnosis of hypermobility syndrome:

  • 2 major criteria
  • 1 major criteria + 2 minor criteria
  • 4 minor criteria
  • 2 minor criteria and unequivocally affected first-degree relative in family history

Another test that the physiotherapist can do is: 'The Beighton score' [1]

Beighton Score.png

  1. A passive dorsiflexion of the little finger above 90degrees (1 point for each hand).
  2. Bringing the thumb passive against the ventral side of the forearm (1 point for each thumb).
  3. Hyperextension of the elbow above 10 degrees ( 1 point for each elbow)
  4. Hyperextension of the knee above 10 degrees (1 point for each knee)
  5. Flexion of the trunk, whit knees straight and the palms flat on the ground ( 1 point)

According to the Beighton and Horan criteria, generalized joint laxity is present when four or more of five tests are positive, including contralateral knee hyperextension.[7] In fact, there is no universal agreement on a threshold for BJHMS, some researchers use a Beighton scale score of 5/9, other researchers use a score of 6/9 and still others use a modified score of 3/9.

  • Kinesiophobia: Tampa Scale for Kinesiophobia (TSK-I) is a questionnaire to measure pain and pain-related fear of movement. It can be used for patients with musculoskeletal complaints. This questionnaire has two sub-scales: “evaluating activity avoidance” ( a belief that activities who cause pain should be avoided) and “harm” (a belief that pain is a sign of damage of the body).[8]
  • Fatigue: Fatique Severity Scale (FSS) is a scale that quantifies the fatique intensity. This scale has a high internal consistency and validity. FSS exist out 9 items with a 7-point response format that indicates the degree of agreement with each item.[8]
  • Pain: Numeric Rating Scale (NRS) is an 11-point numeric scale to roughly measure any kind of pain.[8]
  • Quality of Life: The Medical Outcome Study 36-item Short Form Health Survey (SF-36) is a survey to evaluate aspects of health that are most closely related to quality of life. It consists of 36 questions that measure 8 domains: body pain, physical functioning, physical limitations, general health, vitality, social functioning, emotional limitations and mental health.[8]

Outcome Measures

  • Range of motion [3]
  • Joint integrity and mobility[3]
  • Muscle performance[3]
  • Function and muscle strength[2]
  • Visual analog scale was used to assess musculoskeletal pain.[8]
  • Quality of life was evaluated by a Short Form 36 questionnaire (SF-36).[8]

Examination

  • ROM: Norkin and White[3]
  • End feel[3]
  • Manual testing[3]

Medical Management

For HMS, there is no medical management. To control pain you can use NSAIDs (Non-steroidal anti-inflammatory drugs) or acetaminophen.[4]

Physical Therapy Management

The aim of physical therapy in hypermobility syndrome is to approach the muscle inhibition, atrophy and the reduced joint control caused by the joint pain. Another important step in treating hypermobility syndrome is education. Without this education patients will continue to go over the normal joint range and their extreme joint range can cause a more unstable joint. Fatigue, anxiety and depression are sometimes associated with HMS, and we must try to ameliorate their quality of life. It is necessary to encourage an active lifestyle, so give for example a schedule with exercises to fulfil at least 3 times a week. [7] (Level of Evidence: 2A)

Treatment overview:

  • Education of hypermobility syndrome
  • Activity modification
  • Stretching affected joint
  • strengthening exercises for affected joint
  • osteopathic manipulative treatment[4]

Active mobilisation exercises: shoulder rolls, arm circles, neck rotations, neck lateral flexions, wrist circles, side flexions of the spine, thoracic rotations in sitting.[7](Level of Evidence: 2A) Closed chain exercises are good exercises in many regards: it may reduce strain on injured ligaments, augment proprioceptive feedback, and optimise muscle action. In the studies by Sahin et al. [10](Level of Evidence: 1B) and Ferrell et al. [8](Level of Evidence: 4) they trained specific with the knee joint, whilst the other two studies incorporated whole body exercise interventions to treat joint hypermobility syndrome.


Strengthening exercises: stabilizing muscles around hypermobile joints can be effective for joint support during movement or can reduce pain. These included shuttle-runs, bunny-hops, squat-thrusts, sitting-to-standing, step-ups and star-jumps. (30seconds or a predetermined number of repetitions) [7](Level of Evidence: 2A)


Proprioception exercises: a decreased joint position sense (is there proof of will make patient more vulnerable for damage. Decreased sensory feedback may lead to biomechanically unsound limb positions being adopted, leading to abnormal postures. [9](Level of Evidence: 2C) Coordination and balance exercises may improve proprioception. Exercise on board balance wood (2 to 3 minutes), mini-trampoline jumping (30 reps), walking with eyes closed, single leg balance, single leg ball rolling, forward/backward bends on one leg (eyes open or closed)


Control neutral joint position: identifying the abnormal resting position of symptomatic joints, re-training postural muscles to facilitate optimal joint alignment (avoid hyperextension of the knee when standing)


Re-train dynamic control: once a ‘neutral’ resting position is achieved, re-training of specific muscles to maintain joint position while moving adjacent joints (hip flexion while maintaining spinal neutral) Dynamic control will be exercised with daily activities or sports.


Motion control: improving the ability of specific muscles to control the joint through its entire range, both concentrically and eccentrically, static and posture ( on sitting to- standing quadriceps or working concentrically on standing up and eccentrically on sitting down) [2](Level of Evidence: 1B)

Key Research

add links and reviews of high quality evidence here (case studies should be added on new pages using the case study template)

Resources 

Ehlers-Danlos_Syndrome

Rheumatoid_Arthritis

Systemic_Lupus_Erythematosus

Marfan_Syndrome

Beighton_score

Clinical Bottom Line

Because hypermobility syndrome can excist with other symptoms and complaints, it is important that physiotherapists can diagnose hypermobility syndrome.
According to several articles physical therapy for HS patients includes education of hypermobility syndrome, activity modification, stretching and strengthening exercises for affected joints and osteopathic manipulative treatment.[4]

References

  1. 1.0 1.1 Kirk JA. Et al. The hypermobility syndrome: musculoskeletal complaints look for more recent sources associated with generalized joint hypermobility. Ann Rheum Dis. 1967; 26: 419–25. (Level of Evidence: 4)
  2. 2.0 2.1 2.2 2.3 2.4 2.5 2.6 2.7 Russek LN. Hypermobility Syndrome. Physical therapy . 1999 (Level of Evidence: 2C)
  3. 3.00 3.01 3.02 3.03 3.04 3.05 3.06 3.07 3.08 3.09 3.10 3.11 3.12 3.13 3.14 3.15 Castori M. Et al. Re-writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. American Journal of Medical Genetics part A. 2013. (Level of Evidence: 2C)
  4. 4.0 4.1 4.2 4.3 4.4 4.5 4.6 4.7 MAJ Michael, R.Simpson. Benign Joint Hypermobility Syndrome: Evaluation, Diagnosis, and Management. J Am Osteopath Assoc. 2006;106:531–536 (Level of Evidence: 2C)
  5. 5.00 5.01 5.02 5.03 5.04 5.05 5.06 5.07 5.08 5.09 5.10 Seçkin U. Et al. The prevalence of joint hypermobility among high school students. Rheumatol Int. 2005;25 (4):260–263. (Level of Evidence: 2C)
  6. 6.0 6.1 6.2 6.3 6.4 6.5 Jansson A. Et al. General joint laxity in 1845 Swedish school children of different ages: age- and gender-specific distributions. Acta Paediatr. 2004;93(9):1202–1206. (Level of Evidence: 2C)
  7. 7.0 7.1 7.2 7.3 7.4 Clinch J. Et al. Epidemiology of Generalized Joint Laxity (Hypermobility) in Fourteen-Year-Old Children From the UK:A Population-Based Evaluation.2011(Level of Evidence: 2B)
  8. 8.0 8.1 8.2 8.3 8.4 8.5 8.6 8.7 8.8 Celletti C. Evaluation of Kinesiophobia and Its Correlations with Pain and Fatigue in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type. (Level of Evidence: 2C)
  9. 9.0 9.1 Howard P Levy. Ehlers-Danlos Syndrome, Hypermobility Type. 1993-2013, University of Washington, Seattle
  10. 10.0 10.1 Tofts Louise J. The differential diagnosis of children with joint hypermobility: a review of the literature. Pediatric Rheumatology. 2009 (Level of Evidence: 2C)