In a 14‑year‑old with a Beighton score ≥5 and recurrent right‑shoulder subluxations but no skin findings, chronic pain pattern, family history, or other systemic features, is the diagnosis hypermobile Ehlers‑Danlos syndrome or hypermobility spectrum disorder?

Hypermobility Spectrum Disorder

Based on the 2017 diagnostic criteria and updated 2023 pediatric guidance, this 14-year-old should be diagnosed with hypermobility spectrum disorder (HSD), not hypermobile Ehlers-Danlos syndrome (hEDS), because the adult hEDS criteria should not be applied before biological maturity is reached 1.

Why HSD and Not hEDS in This Case

The 2023 International Ehlers-Danlos Consortium specifically revised diagnostic criteria for children and adolescents, establishing that hEDS should no longer be diagnosed before the age of biological maturity 1. At the end of growth, a specialized reassessment applying the 2017 adult hEDS criteria is required.

The 2017 Diagnostic Framework Requires Three Major Criteria for hEDS:

Criterion 1: Generalized Joint Hypermobility

• Your patient meets this with a Beighton score ≥5 (the threshold for ages puberty to 50 years) 2
• Recurrent shoulder subluxations further support significant joint laxity

Criterion 2: Two or More Additional Features The 2017 criteria require at least 2 of the following 2:

• Systemic manifestations of connective tissue disorder (soft/velvety skin, skin hyperextensibility, striae, etc.)
• Positive family history of hEDS
• Musculoskeletal complications (chronic pain with specific patterns, recurrent dislocations)

Your patient appears to have only ONE feature: recurrent joint subluxations. The absence of skin findings, chronic widespread pain patterns, and family history means Criterion 2 is not satisfied.

Criterion 3: Exclusion of Alternative Diagnoses

• This requires ruling out other heritable connective tissue disorders and conditions that can mimic hEDS
• Genetic testing plays a critical role here, as 26.4% of patients initially meeting hEDS criteria were found to have alternative diagnoses requiring different management 3

Critical Distinction: Why This Matters Clinically

The Evidence Shows Minimal Clinical Difference

Despite the diagnostic distinction, hEDS and HSD patients demonstrate remarkably similar disease severity, extra-articular manifestations, and treatment responses 4. In a prospective cohort of 97 patients:

• Only 3 items differed between groups (pain severity, motricity problems, bleeding)
• Bone fragility, neuropathic pain, and mast cell activation syndrome prevalence were equal
• Long-term improvement occurred in >50% of both groups with coordinated physical therapy
• Family history of hypermobility was the only predictor of favorable outcome

Management Remains Identical

Both conditions require the same therapeutic approach 4, 5:

• Coordinated physical therapy focused on joint stabilization and proprioceptive training
• Occupational therapy for activity modification
• Pain management strategies
• Education about joint protection
• Monitoring for associated conditions (POTS, MCAS, chronic pain syndromes)

Practical Approach for This Patient

Immediate Steps:

1. Diagnose as HSD given age and incomplete fulfillment of adult hEDS criteria
2. Initiate coordinated physical therapy targeting shoulder stabilization and generalized joint strengthening
3. Screen for common comorbidities if symptoms emerge:
   • Orthostatic intolerance (POTS): heart rate increase ≥40 bpm within 10 minutes of standing in adolescents 2
   • Gastrointestinal symptoms (present in >60% of hEDS/HSD patients) 2
   • Chronic pain patterns
   • Anxiety disorders

At Biological Maturity (Post-Growth):

Reassess using full 2017 adult hEDS criteria 1:

• Repeat Beighton scoring
• Comprehensive evaluation for systemic connective tissue features
• Detailed family history reassessment
• Consider genetic testing to exclude alternative diagnoses 3

Common Pitfalls to Avoid

Do not overdiagnose hEDS in adolescents - The 2023 guidance explicitly restricts hEDS diagnosis before biological maturity to prevent premature labeling and ensure appropriate developmental assessment 1.

Do not assume MRI findings indicate inflammatory disease - Sacroiliac joint changes can occur with mechanical stress from hypermobility and should not trigger immunosuppression without clear inflammatory features 6.

Do not delay treatment while pursuing diagnostic certainty - The management for HSD and hEDS is identical, so therapeutic intervention should begin immediately 4, 5.

Do not neglect genetic testing - When resources permit, genetic evaluation can identify alternative diagnoses in over one-quarter of suspected hEDS cases, potentially changing management 3.