Who diagnoses Ehlers-Danlos (EDS) syndrome?

Diagnosis of Ehlers-Danlos Syndrome

Ehlers-Danlos syndrome (EDS) is primarily diagnosed by specialists with expertise in connective tissue disorders, including geneticists, rheumatologists, or specialized multidisciplinary teams, with gastroenterologists increasingly playing a role in identifying and referring patients with hypermobile EDS. 1

Initial Assessment and Screening

• Gastroenterologists often serve as initial screeners for hypermobile EDS (hEDS) when patients present with disorders of gut-brain interaction (DGBI) and should:

  • Inquire about joint hypermobility
  • Incorporate the Beighton score as a screening tool for joint hypermobility 1
  • Apply 2017 diagnostic criteria for hEDS when the screen is positive
  • Refer to appropriate specialists when indicated 1

• The Beighton scale evaluates:

  • Passive extension of little fingers beyond 90 degrees
  • Passive apposition of thumbs to forearm
  • Hyperextension of elbows beyond 10 degrees
  • Hyperextension of knees beyond 10 degrees
  • Forward flexion of trunk with knees extended (palms to floor) 2

Diagnostic Pathway

For Hypermobile EDS (most common type):

1. Clinical assessment using the 2017 diagnostic criteria checklist
2. Exclusion of other conditions presenting with joint hypermobility
3. Referral to genetics specialists for definitive diagnosis 3

For Vascular EDS (most serious type):

1. Targeted genetic testing for the COL3A1 gene
2. Non-invasive vascular imaging to assess for arterial abnormalities
3. Avoidance of invasive diagnostic procedures due to tissue fragility 2

Specialist Involvement

Different specialists may be involved in EDS diagnosis depending on the subtype and presenting symptoms:

• Geneticists: Provide definitive diagnosis and genetic counseling, especially for types with known genetic mutations 4
• Rheumatologists: Evaluate joint hypermobility and musculoskeletal symptoms
• Cardiologists/Vascular specialists: Assess vascular manifestations, particularly in vascular EDS 2
• Gastroenterologists: Screen for hEDS in patients with DGBI and evaluate for associated conditions like POTS and MCAS 1

Associated Conditions Requiring Specialized Assessment

• Postural Orthostatic Tachycardia Syndrome (POTS):

  • Testing through postural vital signs (symptomatic increase in heart rate ≥30 beats/min with 10 minutes of standing)
  • Referral to cardiology or neurology when indicated 1

• Mast Cell Activation Syndrome (MCAS):

  • Testing should be targeted to patients with clinical manifestations involving 2+ physiological systems
  • Serum tryptase levels collected at baseline and 1-4 hours following symptom flares
  • Increases of 20% above baseline plus 2 ng/mL indicate mast cell activation 1

Common Pitfalls in Diagnosis

• Failure to recognize EDS due to overlapping symptoms with other conditions
• Overreliance on genetic testing (especially for hEDS which has no known genetic marker)
• Inadequate assessment of vascular complications in suspected vascular EDS
• Failure to refer to appropriate specialists for definitive diagnosis 5, 6

Key Considerations

• EDS diagnosis remains challenging due to overlapping symptoms between subtypes
• The Villefranche classification and associated criteria are recommended for diagnosis 5
• Accurate diagnosis is crucial for appropriate management, prevention of complications, and genetic counseling 7
• Multidisciplinary assessment is often necessary for comprehensive evaluation and management 2

Remember that early recognition and appropriate referral by primary care physicians and specialists can help prevent devastating complications, particularly in vascular EDS where arterial and organ rupture can be life-threatening 7.