Joint hypermobility syndrome

Definition

Joint hypermobility syndrome (JHS), also known as hypermobility spectrum disorder or sometimes referred to as benign joint hypermobility syndrome, is a connective tissue disorder characterized by joints that move beyond the normal range of motion due to ligamentous laxity. While some individuals are asymptomatic, others experience pain, instability, and musculoskeletal complications. JHS can overlap with Ehlers-Danlos syndrome hypermobile type (hEDS), but the latter has stricter diagnostic criteria and often includes systemic features.

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Epidemiology

• Common in children and adolescents; prevalence decreases with age as ligaments stiffen.

• More frequent in females than males.

• Higher prevalence in certain ethnic groups (e.g., African, Asian, Middle Eastern populations).

• Often underdiagnosed in adults, especially when symptoms are mild.

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Etiology and Pathophysiology

• Primarily due to genetic variations in collagen, elastin, or other connective tissue components, resulting in ligament laxity and joint capsule looseness.

• Autosomal dominant inheritance is suspected in some familial cases.

• Leads to excessive joint mobility, microtrauma, and secondary musculoskeletal strain.

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Risk Factors

• Family history of joint hypermobility.

• Female sex.

• Young age.

• Certain high-flexibility activities (gymnastics, dance, yoga) that can unmask or exacerbate symptoms.

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Clinical Presentation

Musculoskeletal Symptoms

• Joint pain, particularly after activity or at the end of the day.

• Recurrent joint subluxations or dislocations.

• Muscle fatigue and weakness.

• Frequent soft tissue injuries (sprains, tendonitis).

Other Possible Symptoms

• Back pain.

• Clicking joints.

• Easy bruising.

• Poor proprioception (increased risk of falls).

• In some cases, autonomic symptoms (e.g., dizziness, palpitations) due to overlap with conditions like postural tachycardia syndrome (PoTS).

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Diagnosis

Beighton Scoring System (0–9 points) – assesses generalized joint hypermobility:

• 1 point for each elbow that hyperextends >10°.

• 1 point for each knee that hyperextends >10°.

• 1 point for each thumb that touches the forearm when bent backward.

• 1 point for each little finger that bends backward >90°.

• 1 point for placing palms flat on the floor with knees straight.

A score of ≥5 in adults, ≥6 in children, or ≥4 in those over 50 years suggests hypermobility.

Brighton Criteria – combines Beighton score with musculoskeletal symptoms for JHS diagnosis.

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Differential Diagnosis

• Ehlers-Danlos syndrome (hypermobile, classical, vascular types).

• Marfan syndrome.

• Osteogenesis imperfecta.

• Rheumatologic conditions (RA, lupus) when pain is predominant.

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Management

Goals

• Reduce pain.

• Prevent injury.

• Improve joint stability and function.

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Non-Pharmacological Management

• Physiotherapy:

  • Focus on muscle strengthening (especially around hypermobile joints).

  • Core stability training.

  • Proprioception and balance exercises.

• Activity modification: Avoid activities with high joint stress or repetitive hyperextension.

• Orthotics and bracing: For joint stabilization during high-risk activities.

• Education: Postural awareness and safe movement patterns.

• Hydrotherapy: Reduces load on joints while improving muscle tone.

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Pharmacological Management

• Analgesics:

  • Paracetamol (acetaminophen): 500–1000 mg orally every 4–6 hours as needed (max 4 g/day).

  • NSAIDs (e.g., ibuprofen 200–400 mg orally every 6–8 hours with food; maximum 1200–2400 mg/day, depending on patient tolerance and risk factors).

• Topical NSAIDs: Diclofenac 1% gel applied up to 3–4 times daily.

• Neuropathic pain agents (if chronic pain persists):

  • Amitriptyline: start 10 mg nightly, titrate slowly up to 25–75 mg as tolerated.

  • Gabapentin: start 300 mg at night, titrate to 900–1800 mg/day in divided doses.

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Lifestyle and Supportive Care

• Maintain healthy body weight to reduce joint load.

• Avoid prolonged immobility; low-impact exercise is encouraged.

• Sleep hygiene to reduce fatigue and pain sensitivity.

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Prognosis

• Many individuals experience symptom improvement with age.

• Proper physiotherapy and lifestyle measures can significantly reduce pain and injury risk.

• Some may develop chronic pain syndromes if not managed early.

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Patient Education

• Condition is not progressive in most cases.

• Long-term joint health relies heavily on muscle conditioning.

• Early intervention helps prevent secondary problems such as osteoarthritis or chronic pain syndromes.