Hypermobility & Related Disorders – Masterclass +MP3

Research Review By Dr. Joshua Plener©

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Date Posted:

December 2022

Study Title:

Masterclass: Hypermobility and hypermobility related disorders

Authors:

Simmonds JV

Author's Affiliations:

Great Ormond Street Institute of Child Health, University College London, United Kingdom; London Hypermobility Unit, Wellington Hospital, Central Health Physiotherapy, United Kingdom

Publication Information:

Musculoskeletal Science and Practice 2022; 57: 102465.

Background Information:

Joint hypermobility refers to the ability of a joint to move beyond a “normal” range of motion after considering age, gender and ethnicity (1). For some people, joint hypermobility may cause increased risk of injury and may be associated with other systemic conditions suggesting an underlying connective tissue syndrome (2). For others, it may not be a concern and may even be an asset in performing arts or sport.

Connective tissue syndromes are of concern due to the possibility of laxity and/or fragility in tendons, fascia, ligaments and bone related to impaired production or function of structural proteins such as collagen, fibrillin, and elastin (3). These conditions are known as Heritable Disorders of Connective Tissues (HDCT) with the most common being the hypermobile subtype of Ehlers Danlos Syndrome (hEDS) (2).

This masterclass paper provides a comprehensive assessment of patients suffering from joint hypermobility, as well as a discussion on the revised criteria to define the two most common hypermobility related disorders: Hypermobility Spectrum Disorder and Hypermobile Ehlers-Danlos Syndrome.

Summary:

Joint Hypermobility:
Several factors can influence joint hypermobility, including age, gender, race, muscle tone, joint shape, injury and the presence of medical disorders causing joint tissue laxity (1). Various scoring tools can be used to identify joint hypermobility, but cut-off scores are dependent on the patient’s age. Children have increased joint movement which decreases during growth and development, and as a result, scoring tools to identify joint hypermobility have higher cut-off scores in children compared to adults. As well, as adults age, they lose mobility and therefore adults over the age of 50 years have lower cut-off scores to confirm the presence of generalized joint hypermobility (4).

Joint hypermobility may be monoarticular – which could be inherited or acquired such as increased knee extension range of motion following an increase in physical activity (5), pauci-articular – which is classified as a few joints of the body, regional such as upper or lower limb dominant, or poly-articular/generalized throughout the body. Generalized joint hypermobility is observed more frequently in women and on the non-dominant side of the body (6).

Identifying Joint Hypermobility:
To identify joint hypermobility, active and passive ranges of motion are used. The most common grading tool for generalized joint hypermobility is the Beighton Scale, involving 9 maneuvers which are scored out of 9 points (7). For children aged 5 to skeletal maturity, a positive Beighton score is 6 or more, for adults under 50 years of age a positive score is 5 or more, and 50 years and older need a score of 4 or more (2).

Beighton Scale Scoring (maximum 9 points):

One point if, while standing and bending forward, the individual can place their palms on the ground with their legs straight
One point for each elbow that extends more than 10 degrees
One point for each knee that extends more than 10 degrees
One point for each thumb that, with the wrist flexed and the arm straight, can be manipulated to touch the forearm
One point for each fifth finger that extends beyond 90 degrees

Another tool that can be used as a substitute for the Beighton Scale for adults is the 5-part Hypermobility Questionnaire. For this tool, an answer of “yes” to two or more questions give a high suspicion for the presence of hypermobility.

5-Part Hypermobility Questionnaire:

Can you now (or could you ever) place your hands flat on the floor without bending your knees?
Can you now (or could you ever) bend your thumb to touch your forearm?
As a child did you amuse your friends by contorting your body into strange shapes OR could you do the splits?
As a child or teenager did your shoulder or kneecap dislocate on more than one occasion?
Do you consider yourself double-jointed?

Hypermobility Related Disorders

The criteria to diagnosis Hypermobile Ehlers Danlos Syndrome include 3 sections. These criteria are specific for adults as several of the extra articular signs such as hernias and stria might not be present in childhood and take time to evolve. The gap between people with symptomatic joint hypermobility who don’t meet the criteria for hypermobile Ehlers Danlos Syndrome is now filled by the diagnosis of hypermobility spectrum disorder. Hypermobility spectrum disorder may present in different ways, including localized, peripheral, or generalized (2).

Epidemiology and Clinical Presentation

The diagnostic criteria for hypermobility spectrum disorders and hypermobile Ehlers Danlos Syndrome changed in 2017 and as a result, the prevalence has not yet been established. The point prevalence of symptomatic hypermobility and Ehlers Danlos Syndrome using old diagnostic criteria and nomenclature was reported as 194.2 per 100 000 patients in 2016/2017. For both, hypermobility spectrum disorders and hypermobile Ehlers Danlos syndrome, symptoms present across a spectrum of severity, as both can have relatively acute and mild symptoms or chronic and very complex multisystem symptoms (8, 9). Some people are affected mostly by pain and musculoskeletal problems, others by fatigue, and others by dysautonomia, gastrointestinal dysfunction and urogenital problems, autoimmune, neurodevelopmental or cognitive issues, and anxiety and/or depression. In addition, patients frequently have generalized hyperalgesia and central sensitization (10).

Some people with these conditions experience symptomatic flares, particularly after periods of overactivity or inactivity due to injury, illness or stressful life events. The clinical presentation can be further complicated by a triad of hypermobility spectrum disorder or hypermobile Ehlers Danlos syndrome with postural orthostatic tachycardia syndrome (POTS), and Mast Cell Activation Syndrome (MCS). The suggested reason for POTS is not clear but suggested to be a result of peripheral vascular pooling in hyperelastic vascular structures, abnormal sympathetic activity, deconditioning and Mast Cell Activation Syndrome (11, 12). The link between Mast Cell Activation Syndrome is also not clear, but suggested to be present due to an excess of chymase-positive mast cells affecting connective tissue (13).

Clinical Assessment

Disability due to these conditions is often due to pain, fatigue, or psychosocial distress and each should be explored in the history (14). In kids, Development Coordination Disorder can frequently present alongside hypermobility disorders and therefore clumsiness and coordination issues should be explored (15). It is important to establish if there is a first-degree family member diagnosed with a hypermobility disorder and if there have been periods of inactivity due to illness or life events, as these may also trigger episodes of increased symptoms. Other systemic involvement should be explored such as cardiac, gastrointestinal, and psychological (9).

The physical examination should aim to identify functional limitations, as well as assess tissues and body systems that are impacted. The clinician can utilize the Lower Limb Assessment Score and Upper Limb Hypermobility Assessment Tool to explore joint laxity more fully. For example, the Lower Limb Assessment Score includes a standing assessment for navicular drop and further assessment using the Foot Posture Index may provide additional insight into the foot ankle complex. End range assessment should be evaluated as this may exacerbate pain. Clinicians should be particularly attentive to the quality of movement and motor control, not just the outcome and function.

If a patient complains of POTS related symptoms including brain fog, fatigue, chest pain, syncope or dizziness when moving from sitting to standing, a Stand Test can substitute for the formal tilt-table test. The test involves recording the patient’s heart rate after 5 min of resting supine, then at 2, 5 and 10 min after standing still without fidgeting. A rise of 30 beats per minute or more in adults and 40 beats per minute in children is the threshold for the diagnosis of POTS (16). It’s also worthwhile monitoring blood pressure to rule out orthostatic hypotension.

Younger children often present to clinic with pain, fatigue or developmental delay due to poor motor control, proprioception and strength (17). Clinical examination may reveal genu recurvatum, pes planus and over pronation, excessive lordosis or scoliosis. Functional strength and dynamic control can be assessed during movements such as single leg stands, wall squats, heel raises, and walking.

Evaluation, Diagnosis and Management

Genetic testing is only appropriate if another form of Ehlers Danlos syndrome is suspected, such as classical Ehlers Danlos syndrome, which has more significant skin involvement. The vascular form is uncommon, but should be considered due to a life-threatening risk of aortic or organ rupture. Vascular Ehlers Danlos syndrome presents as translucent skin with prominent veins, easy bruising and a characteristic facial appearance with prominent eyes.

The (newer) 2017 diagnostic criteria for hypermobile Ehlers Danlos syndrome must have all 3 criteria met:

Generalized joint hypermobility
Systemic manifestation of a connective tissue disorder which is satisfied with at least 2 of 3 subcategories met including systemic connective tissue involvement, 1st degree family history and/or musculoskeletal pain or dislocations
Exclusion of other conditions

Individuals under 18 years of age and those who have not achieved skeletal maturity may not fulfill all criteria and therefore should be kept under review. Adults who don’t meet hypermobile Ehlers Danlos syndrome criteria, but have symptomatic hypermobility, can be diagnosed with hypermobility spectrum disorder (2).

Treatment can include specific education and goal orientated functional rehabilitation (9, 18). Patients who understand their condition, triggers, reactions and self-care strategies can more effectively manage pain and disability and recover from a flare up or injury. Education can also surround strategies for joint protection and avoiding activities that place excessive stress on joints (19). Experts suggest external joint support such as braces and splints can help protect both large and small joints during activities (19).

Exercise is a cornerstone of management and should be used to address physical impairment. Proprioception and strength training have been shown to be beneficial in reducing joint and spinal pain, but the rate of strengthening should be carefully and gradually increased. Closed chain exercises and augmented or external feedback using biofeedback, tape and close-fitting clothing may be particularly helpful due to patients’ decreased proprioception (20). Progression in a strengthening program should be slow to avoid irritating unstable joints and surrounding muscles and tendons.

An important thing to keep in mind is that in individuals with POTS, physical activity that stresses the circulatory system may be difficult, and as a result, a reduced tolerance for exercise is common in this patient population. First line management of POTS is increasing fluids and salt, avoiding triggers such as hot environments and eating large carbohydrate meals. Patients can learn anti-syncope maneuvers such as fist clenching and shifting weight when standing for long periods of time. Experts recommend beginning with recumbent exercises, lower extremity and core strengthening to facilitate venous return, with a gradual progression of cardiovascular training towards upright exercises (21). Second line management includes medications to increase blood volume or increase vascular tone.

Systemic issues should be recognized due to their potential association with hypomobile spectrum disorders and hypermobile Ehlers Danlos syndrome. For example, mast cell activation signs and symptoms may be present, such as skin reactions to adhesives, slow healing of wounds to systemic and local inflammatory reactions, and severe fatigue. Education to patients is critical in order to ensure they understand how to self-manage.

There is limited evidence for adjunct modalities for reducing pain, but manual therapies, heat, ice, electrotherapy and acupuncture have been reported to be helpful anecdotally (22). Regular physical activity is crucial for long term management, and weight management is also important, especially if a patient is younger and overweight, as this can increase the risk of joint symptoms by two-fold. Physical activity should include activities tailored to the patient and within their tolerance and a sudden increase in training load should be avoided to prevent injury.

Clinical Resource - Download the Diagnostic Criteria from the Ehlers Danlos Society HERE

Clinical Application & Conclusions:

The above is a thorough assessment of hypermobility disorders, providing clinicians with an updated overview. People of all ages are likely to present with hypermobility related disorders to health professionals and many of these people may have complaints involving multiple body systems. A biopsychosocial assessment and functional restoration approach is recommended, with education being a critical component.

Study Methods:

This article was written as a masterclass and therefore, no specific methodology was presented.

Study Strengths / Weaknesses:

Strengths:

The author accomplished the goal of this paper, which was to provide an update on hypermobility spectrum disorder and hypermobile Ehlers Danlos syndrome.
This paper is useful for clinicians as it outlines a number of different topics, including the assessment and management of these conditions.

Weaknesses:

There was no a priori methodology of how the authors identified the information presented. As a result, it is possible that some relevant information may be missing from the article.

Additional References:

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Castori M, Tinkle B, Levy H, et al. A framework for the classification of joint hypermobility and related conditions. Am J Med Genet C Semin Med Genet 2017; 175: 148–157.
Syx D, De Wandele I, Rombaut L, et al. Hypermobility, the Ehlers-Danlos syndromes and chronic pain. Clin. Exp. Rheumatol 2017; 35: S116–S122.
Juul-Kristensen B, Schmedling K, Rombaut L, et al. Measurement properties of clinical assessment methods for classifying generalized joint hypermobility-A systematic review. Am J Med Genet C Semin Med Genet 2017; 175: 116–147.
Hahn T, Foldspang A, Vestergaard E, et al. Active knee joint flexibility and sports activity. Scand J Med Sci Sports 1999; 9: 74–80.
Verhoeven JJ, Tuinman M, Van Dongen PW. Joint hypermobility in African non-pregnant nulliparous women. Eur J Obstet Gynecol Reprod Biol 1999; 82: 69–72.
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Copetti M, Morlino S, Colombi M, et al. Severity classes in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders: a pilot study of 105 Italian patients. Rheumatology 2019; 58: 1722–1730.
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Scheper MC, Pacey V, Rombaut L, et al. Generalized hyperalgesia in children and adults diagnosed with hypermobility syndrome and ehlers-danlos syndrome hypermobility type: a discriminative analysis. Arthritis Care Res 2017; 69: 421–429.
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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.
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.
Bennett SE, Walsh N, Moss T, et al. Understanding the psychosocial impact of joint hypermobility syndrome and Ehlers-Danlos syndrome hypermobility type: a qualitative interview study. Disabil Rehabil 2021; 43: 795–804.
Kirby A, Davies R. Developmental coordination disorder and joint hypermobility syndrome–overlapping disorders? Implications for research and clinical practice. Child Care Health Dev 2007; 33: 513–519.
Plash WB, Diedrich A, Biaggioni I, et al. Diagnosing postural tachycardia syndrome: comparison of tilt testing compared with standing haemodynamics. Clin Sci (Lond) 2017; 124: 109–114.
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