Hypermobility Spectrum Disorder

Hypermobility Spectrum Disorder (HSD), also known as hypermobility syndrome or joint hypermobility syndrome, is a heritable connective tissue disorder that affects joints and ligaments.

It shares similarities with other genetic connective tissue disorders such as Ehlers-Danlos syndromes but does not include asymptomatic joint hypermobility, sometimes referred to as double-jointedness.

Classification

Hypermobility spectrum disorders are diagnosed when individuals experience symptomatic joint hypermobility but do not meet the criteria for other connective tissue disorders, like Ehlers-Danlos syndrome. The term "hypermobility spectrum disorder" was introduced in 2017 to address the overlap between joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type (EDS-HT).

This classification change resulted in stricter criteria for hypermobile Ehlers-Danlos syndrome, leaving many who previously fit the criteria now classified under hypermobility spectrum disorders.

Signs and Symptoms

Symptoms of hypermobility spectrum disorder can vary widely among affected individuals. Some common symptoms include joint pain, which can occur in any joint, and muscle pain. Swelling around a joint when it is being exerted is also common. Fatigue, particularly in the legs, is another symptom, alongside muscle spasms and varying pain levels around the affected areas. Some individuals may experience a weaker immune system and depression.

• Joint pain
• Exhaustion
• Swelling around the joint
• Depression
• Weaker immune system
• Muscle pain
• Muscle spasms

Other symptoms can appear, and not everyone experiences the same symptoms.

Diagnosis

Diagnosing hypermobility syndrome can be challenging due to its resemblance to conditions like double-jointedness or general achiness from lack of exercise. The Beighton Score is a tool used to determine generalised joint hypermobility (GJH) related to hypermobility syndrome. Individuals who do not meet the Beighton

Score criteria may be diagnosed with historical joint hypermobility spectrum disorder, peripheral hypermobility spectrum disorder, or localised hypermobility spectrum disorder.

The criteria for diagnosing hypermobile spectrum disorder are less strict than those for hypermobile Ehlers-Danlos syndrome but are specific to the diagnosis of HSD. Musculoskeletal involvement is required for diagnosing hypermobility spectrum disorder, but not for hypermobile Ehlers-Danlos syndrome. Both conditions are associated with orthostatic tachycardia, gastrointestinal disorders, and pelvic and bladder dysfunction.

Treatment

There is no direct cure for hypermobility syndrome, but its symptoms can be managed. Physiotherapy, particularly exercise, is the mainstay of treatment, although evidence for its effectiveness is limited. Treatments for pain include bandaging the affected area, applying ice packs, and taking over-the-counter painkillers such as paracetamol or ibuprofen.

• Bandaging the affected area
• Placing an ice pack on the affected area
• Taking over-the-counter painkillers like paracetamol or ibuprofen

Prevalence

The prevalence of hypermobility spectrum disorder is unknown, but it can be high among those attending musculoskeletal services.

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Self-assessment MCQs (single best answer)

What is another name for Hypermobility Spectrum Disorder (HSD)?

When was the term "hypermobility spectrum disorder" introduced?

Which of the following is NOT a common symptom of hypermobility spectrum disorder?

What tool is used to determine generalised joint hypermobility (GJH)?

Which of the following is required for diagnosing hypermobility spectrum disorder but not hypermobile Ehlers-Danlos syndrome?

Which of the following treatments is NOT recommended for managing hypermobility syndrome symptoms?

Which symptom is associated with both hypermobility spectrum disorder and hypermobile Ehlers-Danlos syndrome?

What is the mainstay of treatment for hypermobility syndrome?

Which of the following is a common experience among individuals with hypermobility spectrum disorder?

Which of the following criteria is less strict for diagnosing hypermobile spectrum disorder compared to hypermobile Ehlers-Danlos syndrome?