Does a 36-year-old woman with a Beighton score of 5 and flat feet meet criteria for hypermobile Ehlers-Danlos syndrome?

Hypermobile Ehlers-Danlos Syndrome Assessment

A 36-year-old woman with a Beighton score of 5 and flat feet meets the first criterion for hypermobile EDS (generalized joint hypermobility), but requires assessment of additional musculoskeletal/systemic features and exclusion of alternative diagnoses before confirming the diagnosis. 1

Diagnostic Framework for hEDS

The American College of Medical Genetics and Genomics requires three mandatory criteria to be fulfilled for hypermobile EDS diagnosis: 1

Criterion 1: Generalized Joint Hypermobility (✓ MET)

• Your patient meets this criterion with a Beighton score of 5/9, which is the required threshold for adults under 50 years old 1
• The Beighton scale includes: passive fifth finger dorsiflexion >90°, thumb apposition to forearm, elbow hyperextension >10°, knee hyperextension >10°, and ability to place palms flat on floor with knees extended 1

Criterion 2: Musculoskeletal and Systemic Manifestations (REQUIRES ASSESSMENT)

You must now evaluate for Feature A (required) plus Feature B or C: 1

Feature A - Musculoskeletal complications (≥1 required):

• Recurrent joint dislocations or subluxations affecting multiple joints 1
• Chronic joint and limb pain that is severely disabling 1
• Chronic, widespread pain for ≥3 months 1

Feature B - Additional systemic manifestations (≥3 required):

• Soft, velvety skin texture 1
• Easy bruising without significant trauma 1
• Functional bowel disorders (IBS, functional gastritis) 1
• Orthostatic intolerance or POTS (heart rate increase ≥30 bpm within 10 minutes of standing) 1
• High, narrow palate with dental crowding 1
• Arachnodactyly, pectus deformity, or other skeletal features 1

Feature C - Family history:

• First-degree relative meeting hEDS criteria 1

Note on flat feet: While pes planus (flat feet) represents a musculoskeletal finding consistent with connective tissue laxity, it alone does not fulfill the specific criteria outlined above. 2

Criterion 3: Exclusion of Alternative Diagnoses (CRITICAL STEP)

This criterion is frequently overlooked but essential. 3 Recent evidence demonstrates that 26.4% of patients initially meeting hEDS criteria actually had alternative or additional diagnoses identified through genetic testing that required distinct management strategies. 3

Mandatory exclusion workup includes:

• Genetic testing to exclude other EDS subtypes (particularly vascular EDS with COL3A1 testing if there are any vascular features, thin translucent skin, or characteristic facial features) 1
• Evaluation for other heritable connective tissue disorders (Marfan syndrome, Loeys-Dietz syndrome) 3
• Assessment for inflammatory diseases, monogenic syndromes, and chromosomal abnormalities that can present with joint hypermobility 3

Critical Clinical Pitfalls

Do not assume hEDS diagnosis based solely on Beighton score. 3 A Beighton score of 5 indicates generalized joint hypermobility but does not distinguish between:

• Hypermobile EDS (requires all 3 criteria) 1
• Hypermobility spectrum disorders (symptomatic hypermobility not meeting full hEDS criteria) 4
• Benign joint hypermobility (asymptomatic) 5

The diagnostic odyssey is common in these patients. 5 Referral to genetics, physical medicine and rehabilitation, or rheumatology is recommended to complete the comprehensive evaluation and prevent complications. 5

Associated Conditions to Screen For

If hEDS is confirmed, evaluate for common comorbidities that affect management: 1, 6

• Postural orthostatic tachycardia syndrome (POTS) - affects up to 37.5% of hEDS patients 2
• Functional gastrointestinal disorders - affect up to 98% of patients 1, 2
• Mast cell activation syndrome 6
• Aortic root dilation (occurs in 25-33% of classic and hypermobile EDS) - requires echocardiography 1, 2

Management Approach if Diagnosis Confirmed

Low-resistance exercise is the cornerstone of management to improve joint stability through symmetric muscle strengthening, though physical therapy for myofascial release should precede exercise programs. 2 Multidisciplinary pain management is often required for chronic pain syndromes. 1