What is the best approach to diagnose and manage a patient with suspected joint hypermobility, particularly one with a history of autoimmune conditions or infections, presenting with swollen and tender joints?

Hypermobility Testing and Management in Patients with Swollen, Tender Joints

Use the Beighton score as your primary screening tool for joint hypermobility, with a cutoff of ≥5/9 in adults (≥6/9 in children), and if positive with systemic symptoms, apply the 2017 diagnostic criteria for hypermobile Ehlers-Danlos syndrome (hEDS) or refer to a specialist. 1

Initial Clinical Assessment

Screen all patients with disorders of gut-brain interaction or unexplained musculoskeletal symptoms for joint hypermobility using the Beighton scoring system. 1 The Beighton score evaluates 9 specific joint movements:

• Passive dorsiflexion of the fifth finger beyond 90° (1 point per hand) 1
• Passive apposition of the thumb to the flexor aspect of the forearm (1 point per hand) 1
• Hyperextension of the elbow beyond 10° (1 point per arm) 1
• Hyperextension of the knee beyond 10° (1 point per leg) 1
• Forward flexion of the trunk with palms flat on the floor without bending knees (1 point) 1

The Beighton score demonstrates good inter-rater reliability (kappa 0.78) and intra-rater reliability (kappa 0.75) when performed by experienced clinicians. 2 In adults, a score of ≥5/9 indicates generalized joint hypermobility; in children, use ≥6/9 as the cutoff. 3

Distinguishing Hypermobility from Inflammatory Arthritis

When patients present with swollen and tender joints, you must differentiate benign hypermobility from inflammatory arthritis, particularly in those with autoimmune history or prior infections:

Key Clinical Features Suggesting Inflammatory Arthritis:

• Morning stiffness lasting >30-60 minutes that improves with activity 1
• Symmetric polyarthritis involving small joints (MCPs, PIPs, wrists, MTPs) 4
• Joint swelling (synovitis) on examination, not just pain 1
• Improvement with NSAIDs or corticosteroids but not opioids 1

Initial Laboratory Workup for Swollen Joints:

Obtain a complete autoimmune panel including: 1

• ANA, RF, anti-CCP antibodies 1
• Inflammatory markers (ESR and CRP) 1
• HLA-B27 if symptoms suggest reactive arthritis or axial involvement 1

Consider arthrocentesis if septic arthritis or crystal-induced arthritis is suspected, particularly with monoarticular involvement. 1

Imaging Considerations:

• Plain radiographs to exclude metastases and evaluate for erosions 1
• Ultrasound or MRI if persistent arthritis is unresponsive to treatment or if you suspect septic arthritis 1

Screening for Associated Conditions in Hypermobility

If the Beighton score is positive (≥5/9 in adults), screen for postural orthostatic tachycardia syndrome (POTS) and mast cell activation syndrome (MCAS) only if the patient has clinical manifestations beyond joint hypermobility. 1

POTS Screening:

Test for POTS through postural vital signs: measure heart rate increase of ≥30 beats/min within 10 minutes of standing (≥40 beats/min in adolescents 12-19 years) in the absence of orthostatic hypotension. 1

Clinical features suggesting POTS include: 1

• Orthostatic intolerance symptoms present for ≥6 months 1
• Palpitations, tremulousness, lightheadedness, fatigue, blurred vision 1
• GI symptoms (nausea, abdominal pain, early satiety, constipation) 1
• History of prior viral or GI infection (reported in up to 40% of POTS patients) 1

MCAS Screening:

Consider MCAS testing only in patients with episodic symptoms involving ≥2 organ systems (cutaneous, GI, cardiac, respiratory, neuropsychiatric), including: 1

• Visceral and somatic pain, pruritus, flushing, sweating 1
• Urticaria, angioedema, wheezing, tachycardia 1
• Abdominal cramping, vomiting, nausea, diarrhea 1

Measure serum tryptase during symptomatic episodes: an increase from baseline to plus 20% + 2 ng/mL documents mast cell involvement. 1

Critical Pitfall: Prior Infection History

Up to 40% of patients with POTS report a viral upper respiratory or GI infection as the precipitating event. 1 Recent evidence links both acute and long COVID-19 to POTS development. 1 The association between prior infection and subsequent development of gastroparesis, functional dyspepsia, and IBS mirrors the infectious trigger seen in POTS/MCAS. 1 Therefore, a history of recent infection should prompt heightened suspicion for POTS/MCAS in hypermobile patients with GI or autonomic symptoms. 1

Management Approach for Confirmed Hypermobility

Manual therapy should be used judiciously in hypermobile patients; active exercise is the essential element of care. 5, 6 Progress is often slow and hampered by physical and emotional setbacks. 6

Conservative Management Strategies:

• Education and lifestyle advice regarding joint protection 6
• Behavior modification to avoid hyperextension and joint trauma 6
• Paced exercise programs focusing on strengthening periarticular muscles 5, 6, 7
• Taping and bracing for joint stabilization 6
• Massage, yoga, and meditation may provide symptomatic benefits 7

When to Refer to Rheumatology:

Refer early if there is joint swelling (synovitis) or if symptoms persist >4 weeks despite conservative management. 1 This is critical to avoid missing inflammatory arthritis that requires disease-modifying therapy.

Special Consideration: Autoimmune History

Patients with autoimmune conditions have increased prevalence of POTS, and family members of POTS patients show greater likelihood of autoimmune disease. 1 Additionally, POTS patients demonstrate increased frequency of nonspecific autoantibodies (anti-acetylcholine receptors, antinuclear antibody, Sjogren's antibodies). 1 Therefore, a personal or family history of autoimmune disease should lower your threshold for POTS/MCAS screening in hypermobile patients. 1