Which specialist should initially manage a patient with Ehlers‑Danlos syndrome?

Management of Ehlers-Danlos Syndrome by Specialist

Medical geneticists are the primary specialists who should initially diagnose and classify Ehlers-Danlos syndrome, as they possess the expertise to evaluate inherited connective tissue disorders and coordinate appropriate genetic testing. 1

Initial Diagnostic Pathway

The diagnostic journey for EDS begins with referral to a medical geneticist when clinical features suggest the condition, family history shows autosomal dominant inheritance, or arteriopathy is suspected. 1 This is critical because:

• Hypermobile EDS (hEDS), representing 80-90% of all EDS cases, has no available genetic test and requires clinical diagnosis using the 2017 criteria 1, 2
• Vascular EDS (Type IV) requires urgent COL3A1 gene mutation testing, which medical geneticists can order and interpret 3, 1
• 26.4% of clinically diagnosed hEDS cases actually have alternative genetic conditions requiring different management, making genetic expertise essential 4

Subtype-Specific Specialist Involvement

For Vascular EDS (Type IV):

Once diagnosed, vascular surgeons and cardiologists become central to ongoing management due to life-threatening arterial complications. 3, 5

• Vascular surgery coordinates surveillance imaging protocols using non-invasive methods (Doppler ultrasound, CT, or MRI) 3, 5
• Baseline imaging from head to pelvis is performed to evaluate the entire aorta and branches 3, 5
• Annual surveillance imaging monitors any dilated or dissected segments 3, 5
• Median survival is 51 years, with arterial rupture risk making this a medical emergency 3, 1

For Hypermobile EDS:

Rheumatologists often perform the initial joint hypermobility assessment using the Beighton scale (score ≥5/9 required for adults under 50 years). 1

Gastroenterologists play a significant role because up to 98% of hEDS patients experience GI manifestations including reflux, abdominal pain, constipation, and bloating. 1, 4 They should:

• Screen for EDS using the Beighton score in patients with disorders of gut-brain interaction 1
• Apply the 2017 diagnostic criteria for hEDS or refer appropriately 1
• Perform celiac disease serological testing earlier in hEDS patients with any GI symptoms 1

Cardiologists evaluate for aortic root dilation, which occurs in 25-33% of classic and hypermobile EDS cases. 1, 4

Neurologists assess for comorbid postural orthostatic tachycardia syndrome (POTS), which affects up to 37.5% of hEDS patients. 1

Multidisciplinary Team Coordination

After initial diagnosis by medical geneticists, ongoing management requires a multidisciplinary team including cardiology, gastroenterology, physical medicine, and genetics specialists. 5 This approach is essential because:

• EDS presents with multiple organ system involvement requiring coordinated care 3
• Patients strongly support multidisciplinary approaches (97% in one survey) 6
• Most patients (58%) do not feel their doctors are knowledgeable about hEDS, necessitating specialist involvement 6

Critical Pitfalls to Avoid

Do not diagnose hEDS without genetic testing to exclude alternative diagnoses, as over one-quarter of clinically diagnosed cases have different genetic conditions. 4

Avoid invasive diagnostic procedures in vascular EDS patients due to fatal complication risk—use non-invasive imaging exclusively. 3, 4, 5

Do not refer all suspected EDS cases to genetics without appropriate screening, as genetic counselors report increased referral volumes straining resources. 7 Rheumatologists and gastroenterologists can apply clinical diagnostic criteria for hEDS before genetics referral. 1