Joint Hypermobility Syndrome (JHS) refers to a condition where joints move beyond the expected physiological range.
Unlike simple flexibility, which may be benign or advantageous in athletes and dancers, JHS is typically accompanied by chronic musculoskeletal symptoms, including pain and fatigue.
Joint Hypermobility Syndrome (JHS) is considered part of the spectrum of inherited connective tissue disorders and frequently overlaps with hypermobile Ehlers-Danlos Syndrome (hEDS).
Clinical identification typically involves assessing joint flexibility through the Beighton score alongside specific musculoskeletal and systemic characteristics. Unlike generalized joint hypermobility (GJH), which is usually benign, JHS includes additional complications such as pain, instability, or functional impairment.
<h3>Diagnostic Challenges and Differentiation</h3>
A key clinical challenge involves distinguishing Joint Hypermobility Syndrome (JHS) from other conditions such as benign flexibility, early-stage autoimmune diseases, or chronic pain syndromes like fibromyalgia. Misdiagnosis is common—recent clinical data suggest that nearly one-third of individuals with JHS are initially diagnosed incorrectly.
This often results in treatment delays or the use of management strategies that do not effectively address the underlying condition.
Professor Rodney Grahame, a leading expert in hypermobility disorders, emphasized that awareness of non-articular symptoms—such as gastrointestinal dysmotility, autonomic dysfunction, and fatigue—is essential for accurate diagnosis. These systemic manifestations may occur despite minimal visible joint abnormalities.
<h3>Associated Complications Beyond Joint Pain</h3>
Although the hallmark feature of JHS is excessive joint motion with accompanying pain, recent studies suggest neurological and vascular involvements are not uncommon. Many patients report proprioceptive dysfunction, leading to frequent injuries or falls. In addition, orthostatic intolerance syndromes such as Postural Orthostatic Tachycardia Syndrome (POTS) are frequently comorbid, highlighting the complex autonomic implications.
A recent expert review suggested that weakened collagen structure in connective tissues may underlie the wide range of symptoms seen in more severely affected individuals. This impaired collagen integrity is thought to contribute not only to joint issues but also to systemic manifestations, particularly in cases with pronounced symptoms.
<h3>Management Strategies: Beyond Physical Therapy</h3>
Treatment remains symptomatic and multidisciplinary, as no curative therapy currently exists. Physical rehabilitation focuses on muscle strengthening without excessive joint strain, often guided by a physiotherapist familiar with connective tissue conditions. However, the role of psychological support is increasingly recognized.
Recent studies have highlighted that cognitive-behavioral therapy can significantly enhance quality of life and coping strategies for patients suffering from chronic, non-inflammatory musculoskeletal pain related to Joint Hypermobility Syndrome.
Pharmacological treatment typically involves careful use of pain relievers and medications targeting neuropathic pain. While NSAIDs may offer short-term symptom relief, they are generally not recommended for long-term use since inflammation is not a primary factor in these cases.
<h3>Is It Genetic? Emerging Insights into Pathophysiology</h3>
Though the exact genetic markers for JHS have not been fully identified, research continues to explore candidate genes involved in connective tissue matrix synthesis and repair. Some preliminary findings suggest a possible linkage with TNXB mutations, though more data is needed to establish conclusive genetic pathways.
Genetic counseling is generally recommended only when JHS is suspected to be part of a broader heritable disorder, such as hEDS, which may involve a different set of diagnostic protocols.
Joint Hypermobility Syndrome is no longer viewed as a vague or harmless condition. With growing evidence of systemic involvement and quality-of-life impact, medical professionals are encouraged to adopt a comprehensive, evidence-based diagnostic and management approach. Continuous education, both for clinicians and patients, is vital to ensuring timely identification and appropriate care strategies for this often-overlooked syndrome.
