Which medical specialty diagnoses Ehlers-Danlos syndrome?

Diagnosis of Ehlers-Danlos Syndrome: Specialty Approach

Ehlers-Danlos syndrome (EDS) is typically diagnosed by medical geneticists, with involvement from other specialists depending on the specific subtype and presenting symptoms. 1

Primary Diagnostic Specialty

• Medical geneticists are the primary specialists who diagnose and classify EDS, as they have expertise in evaluating inherited connective tissue disorders and can coordinate appropriate genetic testing 1, 2
• Diagnosis requires a comprehensive clinical evaluation based on established diagnostic criteria, family history assessment, and in most subtypes, confirmatory genetic testing 2
• For hypermobile EDS (hEDS), which is the most common subtype (80-90% of EDS cases), diagnosis is primarily clinical as no specific genetic markers have been identified 3, 4

Multidisciplinary Involvement Based on EDS Subtype

For Vascular EDS (Type IV):

• Cardiologists and vascular specialists are often involved due to the risk of arterial rupture and aneurysms 1, 3
• Genetic testing for COL3A1 mutations is essential for definitive diagnosis 1
• Imaging specialists perform baseline and surveillance imaging of the entire aorta and branch vessels 3

For Hypermobile EDS:

• Rheumatologists often evaluate joint hypermobility using the Beighton scale (score ≥5 required for diagnosis) 3
• Gastroenterologists assess common GI manifestations, which affect up to 98% of hEDS patients 3
• Cardiologists evaluate for aortic root dilation, which occurs in 25-33% of classic and hypermobile EDS types 3
• Neurologists may evaluate for comorbid POTS (postural orthostatic tachycardia syndrome) 3

Diagnostic Process

1. Initial evaluation typically begins with referral to a medical geneticist for suspected EDS 1, 2

2. Clinical assessment includes:

   • Joint hypermobility evaluation using the Beighton scale 3
   • Skin assessment for hyperextensibility, fragility, and scarring 3
   • Family history assessment for autosomal dominant inheritance pattern 3
   • Echocardiogram to evaluate for aortic root dilation 3
   • Dilated eye examination to exclude related conditions like Marfan syndrome 3

3. Genetic testing approach:

   • For suspected vascular EDS: COL3A1 gene testing 3, 1
   • For other EDS subtypes: targeted gene panels based on clinical presentation 2
   • Whole exome sequencing may be considered when panel testing is negative but clinical suspicion remains high 2
   • Hypermobile EDS remains a clinical diagnosis as no genetic markers have been identified 4, 2

Common Pitfalls in Diagnosis

• Overdiagnosis of hEDS due to overlap with other hypermobility disorders - prevalence is estimated at only 1/10,000 despite frequent suspicion 4
• Failure to recognize vascular EDS, which carries significant mortality risk from arterial or organ rupture 3, 5
• Inappropriate invasive diagnostic procedures in vascular EDS patients, which can lead to fatal complications 1
• Inadequate genetic testing strategy - phenotype-guided testing is more efficient than broad panels in many cases 2
• Misdiagnosis of EDS subtypes due to overlapping features - proper classification is essential for appropriate management 6

Key Takeaways

• Medical geneticists are the primary specialists for diagnosing EDS, with involvement from other specialists based on organ system involvement 1, 2
• Diagnosis combines clinical criteria, family history, and genetic testing (except for hypermobile EDS) 3, 2
• A multidisciplinary approach involving cardiology, gastroenterology, rheumatology, and other specialties is essential for comprehensive evaluation 1
• Genetic testing confirms most EDS subtypes except hypermobile EDS, which remains a clinical diagnosis 4, 2