Research Review By Dr. Jeff Muir©

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Date Posted:

February 2020

Study Title:

Recognizing and Effectively Managing Hypermobility-related Conditions

Authors:

Russek LN, Stott P & Simmonds J

Author's Affiliations:

Physical Therapy Department, Clarkson University, New York, USA; Elevation Wellness, Golden, Colorado, USA; Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.

Publication Information:

Physical Therapy 2019; 99: 1189–1200.

Background Information:

Joint hypermobility-related disorders, historically referred to as Joint Hypermobility Syndrome (JHS) or Ehlers-Danlos Syndrome (EDS), are more accurately referred to by the more restrictively diagnosed hypermobile Ehlers-Danlos Syndrome (hEDS) or less restrictively as hypermobility spectrum disorder (HSD).

Despite these diagnoses, it must be remembered that hypermobility is properly defined as a structure/function impairment and is not a diagnosis in and of itself. Hypermobility can be limited to individual joints or be generalized (1). Causes are variable, and include possible genetic links, with hypermobility generally characterized by connective tissue abnormalities causing widespread signs and symptoms involving most body systems (2-4).

This perspective article aimed to: 1) improve the ability of all clinicians to recognize HSD/hEDS while applying the diagnostic criteria for hEDS; 2) understand the impact of the multi-system involvement of hypermobility; and 3) apply evidence-based principles to the management of these patients.

Summary:

Clinical Presentation:
Patients with hypermobility tend to present with generalized joint hypermobility, and with a variety of symptoms including fatigue, dysautonomia and coordination deficits, although symptoms may change or evolve throughout the patient’s lifespan. Childhood is characterized by delayed motor development, poor coordination, fatigue and gastrointestinal problems. Adulthood is dominated by recurrent muscle, joint and tendon pain, peripheral neurogenic pain, sleep disorders and urogenital problems. Later adulthood is associated with chronic pain, disabling fatigue, central sensitization and visceral problems (5). Flare-ups in symptoms may follow periods of over- or inactivity, which may exacerbate muscle weakness (6). Finally, HSD/hEDS combined with postural orthostatic tachycardia (POTS) and mast cell activation syndrome (MCAS) comprises the Common Triad (7), which is thought to be related to peripheral vascular pooling and abnormal sympathetic activity (8, 9).

Patient Examination:
Patients are often unaware that their non-musculoskeletal symptoms may be related to HSD/hEDS and thus may not provide those details during the history. Several items should be noted during the patient history:
  • A formal diagnosis of hEDS in a first-degree relative is one main diagnostic criteria, along with a history of hernias, organ prolapse, recurrent non-traumatic dislocations, mitral valve prolapse and aortic dilatation.
  • Contributing factors, common postures and provocative activities should be determined, including periods of inactivity due to illness.
  • The Bristol Impact of Hypermobility questionnaire is validated for JHS but not HSD/hEDS or in children, but may be useful in some cases. The Pediatric Quality of Life Measure (PedsQL) is useful when diagnosing in children.
  • The Beighton score to assess hypermobility at the elbows, knees, thumbs, fifth metacarpophylangeal joint and trunk is helpful (the Beighton score gives one point for each side on the four extremities and one point for the spin, for a total of 9). Hypermobility is indicated with 6/9 hypermobile joints in prepubertal children; 5/9 for adolescents to 50-year olds; and 4/9 for those over 50.
  • Diagnostic criteria for systemic connective tissue disorder includes soft, velvety skin; mild skin hyperextensibility at the volar forearm; unexplained stretch marks; atrophic scarring; and piezogenic papules in the heel (visible on weight-bearing).
Additional considerations during the examination include the fact that some patients with HSD/hEDS may present with proprioceptive deficits, while in others fatigue may be prominent, and can be assessed via a Stand Test. Younger children may present with pain, fatigue or developmental delays and examination should include evaluation of sitting and standing posture, paying attention to poor stabilization and weight-bearing tests that would reveal hyperextension of the elbows or wrists.

Evaluation, Diagnosis and Prognosis:
The 2017 diagnostic criteria for hEDS indicates that patients must display 3 criteria for diagnosis: generalized joint hypermobility; systemic manifestations of a connective tissue disorder (2 of: systemic connective tissue involvement, first-degree family involvement or musculoskeletal pain or dislocation); and exclusion of other conditions. Particular attention should be paid to identifying comorbidities (POTS and MCAS), as POTS can result in poor exercise tolerance, which will affect treatment success. Evaluation must prioritize the patient’s comorbid conditions and determine the appropriate approach to treatment, based on the patient’s abilities and limitations. Psychosocial factors can significantly impact pain and disability (10) and the type of pain can be important, as inflammatory and mechanical nociception should be managed differently than neuropathic pain or sensitization (11).

Treatment Strategies:
Several important factors should be considered when planning treatment:
  • Treatment will reflect the severity of symptoms, with mild symptoms responding well to typical rehabilitation treatment and severe/complex conditions requiring multidisciplinary intervention.
  • Effective communication is paramount, as these are lifelong conditions, and patient self-management is crucial.
  • Strategies for joint protection should be practiced and, in the case of dependent patients, caregivers should be aware of these strategies.
  • General and targeted strengthening exercises are beneficial, although exercise should progress gradually and be guided by motor learning to ensure quality movement (12, 13).
  • Consistent physical activity and weight monitoring are essential, especially for younger patients (14). Stretching of joints is generally not recommended, although focused stretching can be useful in addressing muscle imbalances, as the hypermobility is generally characterized by lax joints paired with tight musculature.
  • Sleep hygiene should be discussed to address fatigue.
  • Pain management, which is often difficult in this patient cohort, may include manual therapy techniques such as soft tissue mobilization or careful application of spinal mobilization/manipulation (15).
  • Surgery should be avoided, as HSD/hEDS patients have slow and poor tissue healing.

Clinical Application & Conclusions:

Hypermobility spectrum disorder (HSD) and hypermobile Ehlers-Danlos syndrome (hEDS) are multifactorial and complex conditions, requiring knowledgeable clinicians. Properly educating the patient and their family is especially important and clinicians must be aware of the unique nature of the condition, such as a decreased tolerance to exercise or treatment due to tissue fragility and laxity. The authors suggest that clinicians will need to integrate clinical expertise with research to determine the most appropriate treatment regimen.

EDITOR’S NOTE: The chiropractic management of patients with HSD/hEDS relies more of an individual’s clinical experience than evidence at this point. There simply isn’t a lot to go on in the existing scientific literature. In theory, those with extra joint mobility may not benefit as much from manipulative therapy, but in my experience (for what it’s worth), these patients – despite being generally ‘looser’ everywhere – can still have stiff ‘trouble spots’ that may be symptomatic clinically and may benefit from occasional treatment. With that in mind, I typically focussed more time on finding a soft tissue technique they respond well to and also ensuring they have an exercise regimen in place that keeps them fit and perhaps improves motor control and stability.

Study Methods:

These authors provided a narrative review, based on research and evidence currently available in the literature.

Study Strengths / Weaknesses:

Strengths:
  • This was a comprehensive review providing an excellent summary of available evidence.
  • The focus on both diagnosis and management is helpful for all clinicians, regardless of discipline.
Weaknesses:
  • The narrative nature of review did not include any form of data evaluation.
  • While much information was provided, a lack of a more comprehensive integration of diagnosis and treatment will require the reader to seek additional information before determining a treatment program.

Additional References:

  1. Castori M, Hakim A. Contemporary approach to joint hypermobility and related disorders. Curr Opin Pediatr 2017; 29: 640–649.
  2. Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet 2017; 175: 8–26.
  3. Bulbena A, Baeza-Velasco C, Bulbena-Cabré A, et al. Psychiatric and psychological aspects in the Ehlers–Danlos syndromes. Am J Med Genet C Semin Med Genet 2017; 175: 237–245.
  4. Chopra P, Tinkle B, Hamonet C, et al. Pain management in the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet 2017; 175: 212–219.
  5. Castori M, Morlino S, Celletti C, et al. Re-writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. Am J Med Genet A 2013; 161A: 2989–3004.
  6. Keer R, Simmonds J. Joint protection and physical rehabilitation of the adult with hypermobility syndrome. Curr Opin Rheumatol 2011; 23: 131–136.
  7. Seneviratne SL, Maitland A, Afrin L. Mast cell disorders in Ehlers-Danlos syndrome. Am J Med Genet C Semin Med Genet 2017; 175: 226–236.
  8. Hakim A, O’Callaghan C, De Wandele I, et al. Cardiovascular autonomic dysfunction in Ehlers-Danlos syndrome-hypermobile type. Am J Med Genet C Semin Med Genet 2017; 175: 168–174.
  9. De Wandele I, Rombaut L, Leybaert L, et al. Dysautonomia and its underlying mechanisms in the hypermobility type of Ehlers-Danlos syndrome. Semin Arthritis Rheum 2014; 44: 93–100.
  10. Scheper MC, Juul-Kristensen B, Rombaut L, Rameckers EA, Verbunt J, Engelbert RH. Disability in adolescents and adults diagnosed with hypermobility-related disorders: a meta-analysis. Arch Phys Med Rehabil 2016; 97: 2174–2187.
  11. Castori M. Pain in Ehlers-Danlos syndromes: manifestations, therapeutic strategies and future perspectives. Expert Opin Orphan Drugs 2016; 4: 1145–1158.
  12. Palmer S, Terry R, Rimes KA, Clark C, Simmonds J, Horwood J. Physiotherapy management of joint hypermobility syndrome: a focus group study of patient and health professional perspectives. Physiotherapy 2016; 102: 93–102.
  13. Smith TO, Bacon H, Jerman E, et al. Physiotherapy and occupational therapy interventions for people with benign joint hypermobility syndrome: a systematic review of clinical trials. Disabil Rehabil 2014; 36: 797–803.
  14. 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 Rheum 2013; 65: 1107–1115.
  15. Engelbert RH, Juul-Kristensen B, Pacey V, et al. The evidence-based rationale for physical therapy treatment of children, adolescents and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome. Am J Med Genet C Semin Med Genet 2017; 175: 158–167.