Are you hypermobile?

Hypermobility Spectrum Disorders (HSD) and Ehlers-Danlos Syndromes (EDS) collectively represent a spectrum of connective tissue disorders with varying prevalence rates. HSD, characterised by joint hypermobility and associated symptoms, affects approximately 2% of the population, making it seem a relatively uncommon condition. However, the prevalence in orthopaedic and physiotherapy clinics is much greater, being up to 50% of patients. In contrast, Ehlers-Danlos Syndromes, a group of inherited connective tissue disorders, occur less frequently, with an estimated prevalence of 1 in 5,000 individuals.

These disorders exhibit notable demographic patterns, predominantly affecting more women than men, and especially more in Asian and African racial groups. The onset of symptoms often occurs in childhood or adolescence, although diagnosis may be delayed due to under-recognition or misinterpretation of symptoms and do tend to dimmish somewhat with age. Many patients can go years without coming to a diagnosis.

Classification and Diagnosis of hypermobility and Ehlers-Danlos Syndrome

EDS encompasses 13 distinct types, each characterised by specific genetic mutations and clinical presentations. Among these, Hypermobility EDS (hEDS) and Classical EDS (cEDS) are the most common variants. Diagnosis of EDS requires the fulfilment of criteria outlined in the 2017 International Classification of the Ehlers-Danlos Syndromes, emphasising three domains: joint hypermobility, skin involvement, and systemic manifestations.

Domain 1 involves joint hypermobility and is assessed using standardised measures such as the Beighton Score, which evaluates the flexibility of specific joints. The scoring for the Beighton Scale is as follows:

1 point on each side:

• Apposition of the thumb to the flexor aspect of the forearm.
• Hyperextension of the elbow beyond 10º.
• Hyperextension of the knee beyond 10º.
• Passive dorsiflexion of the fifth MCP to 90º.

Scoring 1 point”

• Forward trunk flexion placing hands flat on the floor with knees extended

The maximum score is 9 and a positive score children is 6 or more, for adults up to the age of 50 is 5 or more and those over 50 years of age 4 or more. There are problems with this score as it only involves a small number of joints, but it does give an indication. What can also be used is the 5-point hypermobility questionnaire. Ask your patient to answer the following:

1. Can you/could you place your hands on the floor without bending your knees?
2. Can you/could you bend your thumb to touch your forearm?
3. As a child did you amuse your friends by contorting your body into strange shapes or could you do the splits?
4. As a child or teenager did you dislocate your shoulder or kneecap on more than one occasion?
5. Do you consider yourself double jointed?

Domain 2 involves skin, fascia, the pelvic floor and Marfin like symptoms. This may include hyperextensibility and fragility of the skin, and abnormal scarring. Systemic manifestations encompass a wide range of symptoms, including chronic pain, gastrointestinal dysfunction, and cardiovascular abnormalities as well as pelvic floor weakness and prolapse.

Domain 3 involves the absence of any other underlying heritable disorder of connective tissue including other variants of EDS.

Meeting criteria across all three domains strengthens the diagnostic accuracy of EDS.

Signs and Symptoms of Ehlers-Danlos Syndrome

Individuals with EDS often experience a myriad of signs and symptoms, reflecting the multisystem nature of the disorder. Joint hypermobility is a hallmark feature, predisposing individuals to recurrent joint dislocations, subluxations, and chronic musculoskeletal pain. Skin manifestations, such as hyperextensibility and easy bruising, result from abnormalities in collagen production and structure.

Beyond musculoskeletal and cutaneous manifestations, EDS can affect various organ systems, leading to gastrointestinal dysfunction, cardiovascular anomalies and postural tachycardia syndrome (POTS), and autonomic dysfunction. Chronic fatigue, cognitive impairment and mood disorders are also common among individuals with EDS, significantly impacting their quality of life.

Hypermobility and EDS in children

Symptoms can often be picked up in children who have hypermobility including recurrent knee or shoulder dislocations, growing pains, fatigue, poor balance and proprioception, excessively pronated feet and POTS. Very young children may also have delayed developmental milestones. These issues can affect a child’s education and quality of life impacting school attendance and performance, the development of handwriting and reduced physical education and sport participation.

Hypermobility in adults

Although symptoms do perhaps reduce with age, EDS in adults can lead to pain from premature osteoarthritis, inflammatory joint diseases and osteoporosis as well joint and muscle pain.

Physiotherapy Management of Ehlers-Danlos Syndromes

Physiotherapy plays a pivotal role in the management of HSD and hEDS, aiming to improve joint stability, reduce pain, and enhance functional capacity. A multidisciplinary approach tailored to individual needs is essential for optimal outcomes. Key physiotherapy interventions include:

External support through taping and splinting can provide stability to hypermobile joints, reducing the risk of subluxations and enhancing proprioception. Kinesio taping and custom-made splints are often employed to support vulnerable joints while promoting optimal alignment.

Hydrotherapy offers a low-impact environment for exercise, facilitating joint mobilisation, muscle strengthening, and cardiovascular conditioning. The buoyancy of water alleviates gravitational stress on joints, making it particularly beneficial for individuals with hEDS who experience chronic pain and joint instability.

Strength exercises are crucial for improving muscle function and joint stability in individuals with HSD and hEDS. Emphasis is placed on weight bearing exercises to enhance muscle control and proprioception while minimising strain on hypermobile joints. Progressive resistance training, guided by a skilled physiotherapist, helps prevent muscle weakness and optimise functional capacity.

Additionally, manual therapy techniques such as soft tissue mobilisation and joint mobilisation may complement exercise interventions, addressing musculoskeletal pain and stiffness. Education on joint protection strategies, activity modification, and pacing is integral to empower individuals with HSD and hEDS to manage their condition effectively.