To whom would you refer a patient with Ehlers-Danlos Syndrome (EDS) for comprehensive management?

Referral Pathways for Ehlers-Danlos Syndrome

Refer all suspected EDS patients to a medical geneticist for definitive diagnosis and classification, as they are the primary specialists with expertise in inherited connective tissue disorders and can coordinate appropriate genetic testing. 1

Primary Referral: Medical Genetics

• Medical geneticists should be the first-line referral for any patient with suspected EDS, regardless of subtype, as they provide definitive diagnosis, classification, and coordinate genetic testing 1
• Genetic counseling is essential before mutation screening due to complex financial, insurance, familial, and social implications 1
• For hypermobile EDS (hEDS), which represents 80-90% of cases, diagnosis remains primarily clinical as no specific genetic markers have been identified 1

Urgent Subspecialty Referrals Based on EDS Subtype

Vascular EDS (Type IV) - Medical Emergency

• Immediately refer to vascular surgery for surveillance imaging protocols and management of arterial complications 1
• Cardiology consultation is critical due to high risk of arterial rupture and aneurysms, with median survival of only 48 years 1
• Avoid invasive vascular imaging as fatal complications have been reported 1
• COL3A1 gene mutation testing should be performed urgently when this life-threatening subtype is suspected 1

Hypermobile EDS (Most Common Type)

• Rheumatology for evaluation of joint hypermobility using the Beighton scale (score ≥5 required for adults under 50) 1
• Gastroenterology for GI manifestations, which affect up to 98% of hEDS patients 1, 2
• Cardiology for echocardiographic evaluation, as aortic root dilation occurs in 25-33% of classic and hypermobile EDS types 1
• Neurology or autonomic specialists for evaluation of comorbid POTS (postural orthostatic tachycardia syndrome), which is highly prevalent 1, 3

Essential Multidisciplinary Team Members

Core Team Composition

• Physical therapy and occupational therapy are among the most effective treatments, with 70% of patients reporting improvement with bracing and occupational therapy 2, 4
• Pain management specialists for chronic pain management, avoiding opioids which can worsen GI symptoms 1, 5
• Dietitian/nutritionist for management of GI symptoms and nutritional optimization 6, 3
• Psychology/psychiatry for brain-gut behavioral therapies and management of anxiety and psychological distress 3, 5

Additional Specialists as Needed

• Allergy/immunology if Mast Cell Activation Syndrome (MCAS) is suspected with episodic multisystem symptoms involving ≥2 physiological systems 1, 3
• Ophthalmology for dilated eye examination to exclude Marfan syndrome 1
• Obstetrics/gynecology for women of childbearing age, as pregnancy carries significant risks including uterine and arterial rupture, especially in vascular type 1
• Pelvic floor physical therapy given high prevalence of pelvic floor dysfunction 1

Common Pitfalls to Avoid

• Do not delay referral to medical genetics if vascular EDS is suspected, as this is a medical emergency with high mortality risk 1
• Avoid routine genetic testing for hEDS, as no causative genes have been identified 1
• Do not perform invasive diagnostic procedures in vascular EDS patients without careful consideration, as this can lead to fatal complications 1
• Avoid prescribing opioids for chronic pain management, as they worsen GI symptoms and have limited efficacy 1, 2
• Do not initiate parenteral nutrition except in life-threatening malnutrition as a temporary bridge to rehabilitative therapies, as HPN-related infections are more frequent in this population 7

Screening Before Specialist Referral

• Apply the Beighton scale for joint hypermobility assessment (available at https://www.ehlers-danlos.com/wp-content/uploads/2017/05/hEDS-Dx-Criteria-checklist-1.pdf) 1
• Measure postural vital signs with active stand test: heart rate increase ≥30 beats/min in adults (≥40 in adolescents) within 10 minutes of standing suggests POTS 1, 3
• Document three-generation family history focusing on sudden deaths, arterial ruptures, organ perforations, and autosomal dominant inheritance patterns 1