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Hypermobility

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Definition/Description

Hypermobility

Joint hypermobility describes the ability of a joint or group of joints to move passively and, or actively through an excessive range of motion, beyond typical physiological limits, considering factors such as age, gender and ethnicity.[1] [2][3] It is typically assessed using the Beighton Score, a clinical tool that quantifies joint laxity but does not serve as a diagnostic criterion by itself.[2] Hypermobility is not a diagnosis but rather a clinically observable finding or sign, that may be congenital or acquired through various means including training, disease or injury/trauma.[2] [4]

Hypermobility can be localised to a single joint, multiple joints or occur throughout the body, termed generalised joint hypermobility (GJH). [2][5] It is often asymptomatic and exists in isolation without any significant health-related manifestations, that is often considered an asset in the performing arts and sport. [2] [4] However, it can also be symptomatic and attributable to an array of neurological, neurodevelopmental or heritable disorders of connective tissue, such as Ehlers-Danlos Syndrome (EDS) or a result of Hypermobility Spectrum Disorder (HSD), the current diagnostic terminology used for symptomatic hypermobility in the absence of a well-defined syndrome.[2][3]

Aetiology

The underlying mechanisms of hypermobility are not fully understood, but it is believed to involve complex interactions between genetic and environmental factors that affect the connective tissues responsible for joint stability, which collectively contribute to the variability in hypermobility presentation.

Genetic Factors: Familial patterns of hypermobility suggest a strong genetic component. [6] Mutations in genes that regulate the synthesis and structure of connective tissue proteins, particularly collagen, are implicated. [7][8] Disorders such as Ehlers-Danlos Syndrome (EDS) exemplify how specific genetic abnormalities disrupt collagen formation.

Collagen Abnormalities: Collagen, a key protein in connective tissues provides tensile strength to ligaments, tendons, and joint capsules. Structural or quantitative alterations in collagen fibers reduce tissue integrity, resulting in joints that can move beyond typical physiological limits.[9]

Elastin Abnormalities: Elastin contributes elasticity to connective tissues, allowing them to stretch and recoil. Abnormal elastin composition or organisation can increase tissue compliance, facilitating excessive joint mobility.[9]

Joint Capsule and Ligament Changes: The mechanical properties of the joint capsule and ligaments are critical for maintaining joint stability. Alterations in their composition, thickness, or fiber alignment can decrease resistance to movement, promoting hypermobility.

Hormonal Influences: Hormones such as estrogen modulate connective tissue properties.[10] Elevated estrogen levels, as seen during pregnancy, can increase ligamentous laxity and joint flexibility, which typically normalise postpartum.

Developmental Factors: Hypermobility is more prevalent in children due to the greater elasticity of immature connective tissues. As individuals age, maturation and cross-linking of collagen fibers reduce tissue elasticity, often leading to a natural decline in joint laxity.[11]

Epidemiology

Hypermobility is influenced by factors such as gender, ethnicity, and age with with variance in reported prevalence of GJH depending on assessment method, Beighton Score cut-off, and population tested. In adults reported prevalence ranges from 10-20%, and in children from 5-64% [12]. In the UK, GJH is more common in girls (27.5%) than boys (10.6%), and more prevalent among Asian and Afro-Caribbean populations compared to Caucasians.[13] Estimates of GJH in children range from 5% to 18% in Caucasian populations,[14] 58.7% in Indian populations [15] and as high as 64% in preschool populations [16]. Common in children, incidence generally decreases during paediatric years with increasing age, typically later in adolescent females than males, [17][18] which can complicate the diagnosis of symptomatic hypermobility across different age groups[19]. When we consider symptomatic hypermobility, HSD/EDS has a reported prevalence of 1.92 per 1000 people.[20] However, Sperotto et al (2014) found that 13.2% of hypermobile children aged 8-13 years had associated symptoms, while Tobias et al [21] reported associated symptoms in 44.8% of an adolescent cohort. Further evidence suggests that hypermobility is often under diagnosed in clinical settings, leading to delayed management of associated conditions.[2]

Clinical Presentation

  1. Joint Pain: Some people with hypermobility may experience pain in their joints, particularly after repetitive or excessive movement.[22]
  2. Joint Instability: The increased range of motion can make joints unstable, increasing the risk of dislocations or partial dislocations (subluxations).[22]
  3. Soft Tissue Injuries: Hypermobile individuals are more prone to ligament sprains, muscle strains, and other soft tissue injuries.[23]
  4. Developmental Issues: In children, hypermobility can delay motor skills such as walking and coordination.[24]
  5. Connective Tissue Disorders: In some cases, hypermobility may be linked to connective tissue disorders like Ehlers-Danlos syndrome (EDS).[25]

Classification of Hypermobility

The types of hypermobility, based on the description provided, can be categorised as follows:

1. Localized Joint Hypermobility (LJH)

  • Involves hypermobility at one or a few specific joints (usually fewer than five).
  • Can affect a single small or large joint and may be bilateral (e.g., bilateral genu recurvatum).

Causes

  • Inherited trait.
  • Acquired due to past trauma, joint disease, surgery, or specific training (e.g., spine hypermobility).

2. Generalized Joint Hypermobility (GJH)

  • Presence of hypermobility at multiple joints (usually five or more).
  • Involves the four limbs and the axial skeleton.
  • Strongly influenced by age, sex, and ethnicity.

Causes

  • Typically congenital or inherited.
  • Acquired forms may result from:
  • Widespread inflammatory or degenerative joint diseases.
  • Endocrine disorders (e.g., hypothyroidism).
  • Malnutrition, especially in children

3. Peripheral Joint Hypermobility (PJH)

  • Involves hypermobility in the small joints of the hands and/or feet.
  • Distinguished from:
  • LJH: Due to the involvement of multiple limb joints.
  • GJH: Due to the absence of axial and large joint involvement.
  • Common in infants, toddlers, and children, where it is often non-pathological or mild.

Pathological Association

Can indicate vascular Ehlers-Danlos Syndrome (EDS) when isolated to small joints.

4. Historical Joint Hypermobility (HJH)

  • Refers to hypermobility that was present in the past but may no longer be appreciable due to age-related changes or loss of range of motion (ROM).
  • Screened using tools like the five-point questionnaire.
  • Hypothesized to be associated with chronic musculoskeletal symptoms in older adults.[2]

Associated Condition and Co-morbidities

Assessment of Hypermobility

Beighton Score

Beighton Score (BS)

The Beighton Score is the gold standard for assessing joint hypermobility, evaluating flexibility at nine specific joints.

Scoring Criteria

  • Evaluates passive dorsiflexion, thumb apposition, elbow and knee hyperextension, and trunk flexion.
  • Each hypermobile joint scores 1 point, with a total score ranging from 0 to 9.

Cut-off Values for Generalized Joint Hypermobility (GJH)

  • For adults (up to 50 years): GJH is suggested if BS ≥5/9.
  • For adults over 50 years: GJH is suggested if BS ≥4/9.

Use of Historical Information

  • If physical conditions prevent BS evaluation, the Five-Part Questionnaire (5PQ) is used for historical assessment.
  • If BS is 1 point below the cut-off and the 5PQ is positive, GJH can still be diagnosed.

Five-Part Questionnaire (5PQ)

The 5PQ is a self-reported screening tool that assesses hypermobility with five yes/no questions. A score of 2 or more suggests GJH.

Questions

  • Can you (or could you) place your hands flat on the floor without bending your knees?
  • Can you (or could you) bend your thumb to touch your forearm?
  • As a child, could you contort your body into strange shapes or do the splits?
  • As a child or teenager, did your kneecap or shoulder dislocate more than once?
  • Do you consider yourself "double-jointed"?

Sensitivity and Specificity

Sensitivity: 71–84% and Specificity: 77–89%

Clinical Integration

  • The Beighton Score remains the primary diagnostic tool for hypermobility.
  • The 5PQ is helpful when physical conditions or age-related changes prevent accurate BS evaluation.
  • Using both tools together increases diagnostic accuracy, especially in cases where hypermobility history is important.[26]

Diagnostic Procedures

Diagnosing hypermobility involves clinical assessment, physical exams, and sometimes additional tests to rule out other conditions. Here's a simplified process:

  1. Medical History: The healthcare provider will ask about joint pain, instability, dislocations, family history of hypermobility or connective tissue disorders, and other health concerns.
  2. Physical Examination: The Beighton score is used to assess joint flexibility. Additional tests may evaluate specific joints for hypermobility.
  3. Joint Assessment: The range of motion in various joints is measured to check if it exceeds normal limits.
  4. Additional Tests:
    • Imaging (X-rays, MRI, ultrasound) to examine joint structures and rule out injuries.
    • Genetic Testing to confirm conditions like Ehlers-Danlos syndrome.
    • Blood Tests to rule out inflammatory joint conditions or other disorders.
  5. Functional Assessment: The healthcare provider evaluates how hypermobility affects daily activities and quality of life, especially if instability or pain is present.
  6. Differential Diagnosis: The provider distinguishes benign hypermobility from other connective tissue disorders, considering family history and clinical findings.
  7. Fatigue: Issues like poor sleep, muscle weakness, and dysautonomia may contribute to increased fatigue in hypermobility.[27]

Physiotherapy Management

Managing Joint Hypermobility can be challenging due to the chronic nature of symptoms, frequent flare-ups, and associated physical and psychosocial complications. Effective management requires a patient-centered, multidisciplinary approach focusing on education, symptom control, and gradual rehabilitation. Here are simplified and structured guidelines:

1. Key Principles of Management

  • Patient Education: Educate about the nature of JH, realistic expectations, and the importance of long-term management.
  • Individualized Goals: Develop short-, medium-, and long-term goals based on the patient’s functional limitations.
  • Behavioral Adaptation: Encourage pacing techniques, ergonomic modifications, and stress coping strategies.
  • Holistic Approach: Address lifestyle factors, including diet, weight management, and stress.

2. Acute Phase Management

Goals: Control pain, reduce inflammation, and prevent further injury.

  • Rest and Pacing: Limit overuse of joints while maintaining gentle movement to avoid stiffness.

Modalities

  • Heat or ice for pain and swelling.
  • Taping or splinting for joint support.
  • Ultrasound or TENS for pain relief.

Manual Therapy

  • Gentle mobilizations for hypermobile areas (avoid aggressive techniques).
  • Joint approximation to enhance proprioception.

Supportive Clothing

Lycra shorts or firm-fitting garments may improve perceived joint stability.

3. Early Rehabilitation

Goals: Improve body awareness, proprioception, and proximal joint stability.

Exercise Strategies

  • Start with low-impact, pain-free exercises.
  • Focus on proprioception and stability (e.g., Swiss ball exercises, hydrotherapy).
  • Integrate stability exercises into daily activities (e.g., walking, stairs).

Cautions: Avoid exercises that exacerbate pain. Tailor even simple exercises to the patient’s capabilities.

4. Middle and Late Rehabilitation

Goals: Build strength, endurance, and coordination while promoting regular physical activity.

Progressive Strengthening

  • Use theraband and closed-chain kinetic exercises to improve concentric and eccentric muscle strength.
  • Incorporate graded resistance exercises and balance training.

Endurance Training

  • Include low-intensity aerobic exercises (e.g., walking, cycling, deep-water running).
  • Monitor progress using diaries, pedometers, or accelerometers.

Proprioception

Use mirrors and guided feedback to refine movement patterns.

5. Long-term Management

Goals: Maintain functional capacity, prevent deconditioning, and improve quality of life.

Cardiorespiratory Fitness

  • Engage in aerobic exercises like swimming, stationary cycling, or elliptical training.
  • Target heart rate zones to monitor and improve fitness.

Behavioral Modifications

  • Incorporate pacing and lifestyle adjustments into daily routines.
  • Address stress-related conditions through psychological support if needed.[28]

Multidisciplinary Management

References

  1. ↑ Beighton, P., Grahame, R. and Bird, H.A., 1989. Clinical Features of Hypermobility Syndrome. Hypermobility of Joints. 2nd ed. Berlin, Germany: Springer, pp.67-84.
  2. ↑ 2.0 2.1 2.2 2.3 2.4 2.5 2.6 2.7 Castori M, Tinkle B, Levy H, Grahame R, Malfait F, Hakim A. A framework for the classification of joint hypermobility and related conditions. InAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics 2017 Mar (Vol. 175, No. 1, pp. 148-157).
  3. ↑ 3.0 3.1 Juul‐Kristensen, B., Schmedling, K., Rombaut, L., Lund, H. and Engelbert, R.H. (2017). Measurement properties of clinical assessment methods for classifying generalized joint hypermobility - A Systematic Review. In American Journal of Medical Genetics Part C: Seminars in Medical Genetics Vol. 175, No. 1, pp. 116 - 147.
  4. ↑ 4.0 4.1 Simmonds JV. Masterclass: hypermobility and hypermobility related disorders. Musculoskeletal Science and Practice. 2022 Feb 1;57:102465.
  5. ↑ Carroll MB. Hypermobility spectrum disorders: A review. Rheumatology and immunology research. 2023 Jul 22;4(2):60-8.
  6. ↑ Hakim AJ, Cherkas LF, Grahame R, et al. The genetic epidemiology of joint hypermobility: a population study of female twins. Arthritis Rheum 2004;50:2640–2644.
  7. ↑ Castori M, Hakim A. Contemporary approach to joint hypermobility and related disorders. Current opinion in pediatrics. 2017 Dec 1;29(6):640-9.
  8. ↑ Malfait F, Hakim AJ, De Paepe A, Grahame R. The genetic basis of the joint hypermobility syndromes. Rheumatology. 2006 May 1;45(5):502-7.
  9. ↑ 9.0 9.1 SYX, D., DE WANDELE, I., ROMBAUT, L. & MALFAIT, F. 2017. Hypermobility, the EhlersDanlos syndromes and chronic pain. Clinical and Experimental Rheumatology, 35, S116-S122.
  10. ↑ Chidi-Ogbolu N, Baar K. Effect of estrogen on musculoskeletal performance and injury risk. Frontiers in physiology. 2019 Jan 15;9:421933.
  11. ↑ Bailey AJ, Paul RG, Knott L. Mechanisms of maturation and ageing of collagen. Mechanisms of ageing and development. 1998 Dec 1;106(1-2):1-56.
  12. ↑ Nicholson LL, Chan C, Tofts L, Pacey V. Hypermobility syndromes in children and adolescents: Assessment, diagnosis and multidisciplinary management. Australian journal of general practice. 2022 Jun;51(6):409-14.
  13. ↑ Clinch J, Deere K, Sayers A, Palmer S, Riddoch C, Tobias JH, Clark EM. Epidemiology of generalized joint laxity (hypermobility) in fourteen‐year‐old children from the UK: A population‐based evaluation. Arthritis & Rheumatism. 2011 Sep;63(9):2819-27.
  14. ↑ Boudreau PA, Steiman I, Mior S. Clinical management of benign joint hypermobility syndrome: a case series. The Journal of the Canadian Chiropractic Association. 2020 Apr;64(1):43.
  15. ↑ Hasija RP, Khubchandani RP, Shenoi S. Pediatric rheumatology-joint hypermobility in Indian children. Clinical & Experimental Rheumatology. 2008;26(1):146.
  16. ↑ Lamari NM, Chueire AG, Cordeiro JA. Analysis of joint mobility patterns among preschool children. Sao Paulo Medical Journal. 2005 May;123(3):119-23.
  17. ↑ Peterson B, Coda A, Pacey V, Hawke F. Physical and mechanical therapies for lower limb symptoms in children with Hypermobility Spectrum Disorder and Hypermobile Ehlers-Danlos Syndrome: a systematic review. Journal of foot and ankle research. 2018 Nov 7;11(1):59.
  18. ↑ Tofts LJ, Simmonds J, Schwartz SB, Richheimer RM, O’Connor C, Elias E, Engelbert R, Cleary K, Tinkle BT, Kline AD, Hakim AJ. Pediatric joint hypermobility: a diagnostic framework and narrative review. Orphanet journal of rare diseases. 2023 May 4;18(1):104.
  19. ↑ McCluskey G, O'Kane E, Hann D, Weekes J, Rooney M. Hypermobility and musculoskeletal pain in children: a systematic review. Scandinavian journal of rheumatology. 2012 Oct 1;41(5):329-38.
  20. ↑ Demmler JC, Atkinson MD, Reinhold EJ, Choy E, Lyons RA, Brophy ST. Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case–control comparison. BMJ open. 2019 Nov 1;9(11):e031365.
  21. ↑ Tobias JH, Deere K, Palmer S, Clark EM, Clinch J. Joint hypermobility is a risk factor for musculoskeletal pain during adolescence: findings of a prospective cohort study. Arthritis & Rheumatism. 2013 Apr;65(4):1107-15.
  22. ↑ 22.0 22.1 Grahame R. Joint hypermobility syndrome pain. Current pain and headache reports. 2009 Dec;13:427-33.
  23. ↑ Nathan JA, Davies K, Swaine I. Hypermobility and sports injury. BMJ open sport & exercise medicine. 2018 Oct 1;4(1):e000366.
  24. ↑ Mercuri E, Brogna C. Developmental coordination disorder and joint hypermobility in childhood: a narrative review. Children. 2022 Jul 7;9(7):1011
  25. ↑ Forghani I. Updates in clinical and genetics aspects of hypermobile Ehlers Danlos syndrome. Balkan medical journal. 2019 Jan;36(1):12.
  26. ↑ Glans M, Humble MB, Elwin M, Bejerot S. Self-rated joint hypermobility: the five-part questionnaire evaluated in a Swedish non-clinical adult population. BMC musculoskeletal disorders. 2020 Dec;21:1-8.
  27. ↑ DEMİREL S. ADVANCED AND CONTEMPORARY STUDIES IN HEALTH SCIENCES.
  28. ↑ Simmonds JV, Keer RJ. Hypermobility and the hypermobility syndrome. Manual therapy. 2007 Nov 1;12(4):298-309.