Hypermobility spectrum disorder

Hypermobility Spectrum Disorder (HSD) is a condition characterized by an increased range of joint movement, leading to pain and instability. It encompasses a group of related disorders that were previously considered separate entities, including what was known as joint hypermobility syndrome (JHS). HSD is now recognized as part of a continuum with Ehlers-Danlos Syndrome (EDS), particularly the hypermobile type, although it is distinct in its lack of systemic features associated with EDS.

Symptoms and Diagnosis

The primary symptom of HSD is an unusually large range of joint movement (Hypermobility). Individuals with HSD may experience joint pain, frequent dislocations, and soft tissue injuries. These symptoms can vary widely in severity and may affect one or multiple joints. Diagnosis is primarily clinical, based on medical history and physical examination. The Beighton score is a commonly used tool to assess joint hypermobility, with a score of 5 or more (out of 9) indicating generalized hypermobility.

Causes and Genetics

The exact cause of HSD is not fully understood, but it is believed to involve a combination of genetic and environmental factors. While specific genes have been implicated in related conditions like EDS, no single genetic marker has been identified for HSD. It is thought that variations in collagen, a protein that provides strength and elasticity to connective tissue, play a role in the condition.

Management

There is no cure for HSD, but symptoms can be managed through a combination of physical therapy, pain management, and lifestyle modifications. Physical therapy is aimed at strengthening the muscles around the joints to improve stability and reduce dislocations. Pain management may include both pharmacological and non-pharmacological approaches. Lifestyle modifications, such as avoiding activities that strain the joints, can also help manage symptoms.

Prognosis

The prognosis for individuals with HSD varies. While the condition can significantly impact quality of life due to pain and functional limitations, it is not life-threatening. With appropriate management, many individuals with HSD can lead active, fulfilling lives.

Epidemiology

HSD is thought to be relatively common, but its exact prevalence is difficult to determine due to varying diagnostic criteria and overlap with other conditions like EDS. It affects both males and females, although it is more frequently diagnosed in females.

See Also

• Ehlers-Danlos Syndrome
• Joint dislocation
• Physical therapy