What is the approach to diagnosing Ehlers-Danlos syndrome (EDS) in primary care?

Diagnosing Ehlers-Danlos Syndrome in Primary Care

Initial Screening Approach

Primary care providers should screen for hypermobile EDS (hEDS) using the Beighton score when patients present with disorders of gut-brain interaction, chronic joint pain, recurrent dislocations, or unexplained multisystem symptoms. 1

When to Suspect EDS

Screen patients who present with:

• Chronic joint or limb pain with recurrent dislocations or subluxations 1
• Gastrointestinal symptoms (functional gastritis, IBS, reflux) - present in up to 98% of hEDS patients 1, 2
• Easy bruising without significant trauma 1
• Orthostatic intolerance (lightheadedness, palpitations upon standing) 2
• Soft, velvety skin with normal or slightly increased extensibility 1

Step-by-Step Diagnostic Process

Step 1: Apply the Beighton Score (Required for Diagnosis)

Score ≥5/9 points for adults under 50 years, ≥4/9 for adults over 50, and ≥6/9 for prepubertal children confirms joint hypermobility. 1, 3

The 9-point Beighton scale includes:

• Passive dorsiflexion of each fifth finger >90 degrees (1 point each side) 1
• Passive apposition of each thumb to flexor surface of forearm (1 point each side) 1
• Hyperextension of each elbow >10 degrees (1 point each side) 1
• Hyperextension of each knee >10 degrees (1 point each side) 1
• Palms flat on floor when bending forward with knees extended (1 point) 1

Step 2: Assess for Major Diagnostic Criteria

All three criteria must be met for hEDS diagnosis:

1. Joint hypermobility confirmed by Beighton score (see above) 1
2. Soft or velvety skin with normal or slightly increased extensibility 1
3. Absence of skin or soft tissue fragility (which would suggest other EDS subtypes like classical or vascular types) 1

Step 3: Document Supporting Minor Criteria

While not sufficient alone, these strengthen the diagnosis:

• Autosomal dominant family history of similar features without skin abnormalities 1
• Recurrent joint dislocations or subluxations affecting multiple joints 1
• Chronic joint or limb pain 1
• Easy bruising 1
• Functional bowel disorders (functional gastritis, IBS) 1
• Neurally mediated hypotension or POTS 1
• High, narrow palate or dental crowding 1

Step 4: Essential Baseline Testing in Primary Care

Order these tests before referral:

• Echocardiogram to evaluate for aortic root dilation (present in 25-33% of hEDS cases) 1, 3
• Postural vital signs if orthostatic symptoms present: measure heart rate increase ≥30 beats/min within 10 minutes of standing for POTS screening 1, 4
• Celiac disease serological testing should be performed earlier in hEDS patients with any GI symptoms 4

Step 5: Targeted Testing for Comorbid Conditions

Only perform these tests if specific clinical manifestations are present:

For POTS (if orthostatic intolerance symptoms):

• Active stand test or referral for tilt table testing 1, 4
• Do not universally test all hEDS patients for POTS 1

For MCAS (if episodic multisystem symptoms):

• Baseline serum tryptase level if patient has flushing, urticaria, wheezing, abdominal cramping, or symptoms involving 2+ physiological systems 4
• Do not routinely test for MCAS in patients with isolated GI symptoms 1, 4

When to Refer to Specialists

Refer to Medical Genetics if:

• Vascular EDS is suspected (family history of sudden death, arterial rupture, organ perforation) - this is life-threatening and requires urgent COL3A1 genetic testing 4
• Clinical features suggest other EDS subtypes (significant skin fragility, severe scoliosis, vascular complications) 4
• Beighton score is positive and you want confirmation of hEDS diagnosis using 2017 criteria 1

Refer to Cardiology if:

• Aortic root dilation is found on echocardiogram 1
• POTS symptoms are refractory to lifestyle modifications 1

Refer to Ophthalmology:

• Dilated eye exam to exclude Marfan syndrome (required for all suspected EDS cases) 1, 3

Critical Pitfalls to Avoid

Do not order genetic testing for hEDS - no causative genes have been identified, and diagnosis is purely clinical 4, 5. However, genetic testing may identify alternative diagnoses in up to 26% of patients who appear to meet hEDS criteria 5.

Do not miss vascular EDS (type IV) - this subtype carries significant mortality risk from spontaneous arterial or organ rupture and requires urgent genetic testing and specialized management 3, 4.

Do not perform invasive diagnostic procedures without considering vascular EDS, as these can lead to fatal complications in affected patients 4.

Do not universally test for POTS or MCAS in all hEDS patients - testing should be targeted to those with specific clinical manifestations 1.

Surveillance After Diagnosis

For patients with normal aortic root:

• Repeat echocardiogram every 2-3 years until adult height is reached 1
• After reaching adult height, repeat only if cardiovascular symptoms develop or major increase in physical activity is planned 1

For patients with aortic root dilation:

• Echocardiogram every 6 months if diameter >4.5 cm in adults or rate of increase >0.5 cm/year 1
• Annual echocardiogram if diameter <4.5 cm and rate of increase <0.5 cm/year 1