Which specialist diagnoses Ehlers-Danlos syndrome?

Which Specialist Diagnoses Ehlers-Danlos Syndrome

Medical geneticists are the primary specialists who diagnose and classify Ehlers-Danlos syndrome, as they possess expertise in evaluating inherited connective tissue disorders and can coordinate appropriate genetic testing. 1, 2

Primary Diagnostic Pathway

Refer all suspected EDS patients to a medical geneticist for definitive diagnosis and classification. 2 This is the gold standard approach because:

• Medical geneticists have specialized training in inherited connective tissue disorders 1
• They can coordinate appropriate genetic testing based on suspected subtype 1, 2
• Genetic counseling is essential before mutation screening due to complex financial, insurance, familial, and social implications 1, 2

When Primary Care Can Initiate Diagnosis

Primary care providers can screen and diagnose hypermobile EDS (hEDS) specifically, which represents 80-90% of all EDS cases 1, 2:

• Apply the 2017 diagnostic criteria for hEDS using the Beighton scale (≥5/9 for adults <50 years, ≥4/9 for adults >50 years, ≥6/9 for prepubertal children) 1, 3
• hEDS diagnosis is purely clinical since no genetic markers have been identified 1, 2
• Primary care can complete the diagnosis without genetics referral if criteria are met 3

Urgent Subspecialty Involvement by EDS Subtype

Vascular EDS (Life-Threatening - Requires Immediate Action)

Immediately refer to vascular surgery and cardiology if vascular EDS is suspected 2:

• Vascular surgeons manage surveillance imaging protocols and arterial complications 1, 2
• Cardiologists evaluate arterial rupture risk and aneurysms (median survival only 48 years) 1, 2
• COL3A1 gene mutation testing must be performed urgently 1, 2
• Consider vascular EDS in patients <45 years with arterial dissection, colonic perforation, or visceral rupture 4

Hypermobile EDS (Most Common)

Multiple specialists may be involved in screening and co-management:

• Rheumatologists evaluate joint hypermobility using the Beighton scale 1
• Gastroenterologists can screen using the Beighton score and apply 2017 hEDS criteria, or refer appropriately 1, 3
• Cardiologists evaluate for aortic root dilation (occurs in 25-33% of hEDS cases) 1, 3
• Neurologists assess for comorbid POTS (postural orthostatic tachycardia syndrome) 1

Critical Pitfall to Avoid

Never delay referral to medical genetics if vascular EDS is suspected - this is a medical emergency with high mortality risk from arterial or organ rupture 1, 2. Suspect vascular EDS if patient has:

• Thin, translucent skin with visible veins 1
• Family history of sudden death, arterial ruptures, or organ perforations 1
• Arterial complications before age 45 4

Screening Tests Before Genetics Referral

Primary care should obtain these baseline studies before referring 1, 3:

• Echocardiogram to evaluate aortic root dilation 1, 3
• Postural vital signs (heart rate increase ≥30 bpm within 10 minutes of standing) to screen for POTS 1, 3
• Three-generation family history documenting sudden deaths, arterial ruptures, and autosomal dominant inheritance 1, 2
• Dilated eye examination to exclude Marfan syndrome 1, 3

What NOT to Do

• Do not order routine genetic testing for hEDS - no causative genes have been identified 1, 2
• Do not perform invasive vascular imaging in suspected vascular EDS - fatal complications have been reported 1
• Do not perform arteriography in vascular EDS patients - it is contraindicated 4