Who treats Ehlers-Danlos syndrome?

Who Treats Ehlers-Danlos Syndrome

Ehlers-Danlos syndrome requires a multidisciplinary team coordinated by medical geneticists, who serve as the primary diagnostic specialists, with subspecialty involvement determined by EDS subtype and organ system manifestations. 1

Primary Diagnostic Specialists

Medical geneticists are the cornerstone specialists who diagnose and classify all EDS subtypes, coordinate genetic testing, and provide genetic counseling before mutation screening due to complex financial, insurance, familial, and social implications. 1 They have specific expertise in evaluating inherited connective tissue disorders and should be consulted for all suspected EDS cases. 1

Initial Screening by Primary Care and Gastroenterology

• Primary care providers can initiate screening using the Beighton score (≥5/9 for adults under 50, ≥4/9 for adults over 50, ≥6/9 for prepubertal children) when patients present with chronic joint pain, recurrent dislocations, or unexplained multisystem symptoms. 2
• Gastroenterologists should screen for hEDS in patients with disorders of gut-brain interaction, as up to 98% of hEDS patients experience GI manifestations. 3, 1 They can apply the 2017 diagnostic criteria or refer to genetics when screening is positive. 3

Subspecialty Involvement by EDS Subtype

For Vascular EDS (Type IV) - The Most Critical Subtype

• Cardiologists and vascular surgeons are essential due to life-threatening risk of arterial rupture and aneurysms, with median survival of 48 years. 1, 4
• Vascular surgery manages surveillance imaging protocols with baseline MRI or CT from head to pelvis, then annual imaging of dilated segments or every 2 years when normal. 3, 4
• Urgent COL3A1 genetic testing must be performed when vascular EDS is suspected, as this is a medical emergency. 1, 4
• Critical pitfall: Never perform invasive vascular imaging or arteriography in vascular EDS patients—fatal complications have been reported. 1, 4, 5

For Hypermobile EDS (80-90% of Cases)

• Rheumatologists evaluate joint hypermobility using the Beighton scale and assess musculoskeletal manifestations. 1
• Gastroenterologists manage GI symptoms including nausea, abdominal pain, constipation, bloating, and reflux, which affect nearly all hEDS patients. 3, 1 They should perform celiac disease testing earlier in hEDS patients with any GI symptoms. 3, 1
• Cardiologists evaluate for aortic root dilation (present in 25-33% of hEDS cases) with baseline echocardiogram, then annually if normal or every 6 months if diameter >4.5 cm. 1, 2, 4
• Neurologists and autonomic specialists assess for POTS (postural orthostatic tachycardia syndrome), which affects up to 37.5% of hEDS patients. 3, 1 Diagnosis requires heart rate increase ≥30 beats/min within 10 minutes of standing without orthostatic hypotension. 3, 1
• Allergy specialists or mast cell disease research centers evaluate for Mast Cell Activation Syndrome (MCAS) when patients present with episodic multisystem symptoms (flushing, urticaria, wheezing). 3, 1 Baseline serum tryptase should only be obtained in these specific cases, not routinely. 3, 1

Essential Coordinated Care Team

• Physical medicine and rehabilitation specialists provide low-resistance exercise to increase muscle tone and improve joint stability—the cornerstone of hEDS treatment. 4
• Pain management specialists coordinate non-opioid pain strategies, as opioids should be avoided in chronic pain management, especially with GI manifestations. 1, 4
• Clinical psychology and liaison psychiatry address psychological distress, which is common in hEDS patients. 3, 4
• Nutritional counseling is mandatory when implementing special diets (gastroparesis diet, elimination diets) to prevent restrictive eating. 3, 4

Surveillance and Long-Term Management

• Ophthalmologists perform dilated eye examination to exclude Marfan syndrome and other related conditions. 1
• Obstetricians provide high-risk pregnancy care for women with EDS due to uterine and arterial rupture risk, especially in vascular type. 1
• Regular follow-up with the multidisciplinary team is required for all EDS subtypes, with surveillance protocols tailored to specific complications. 4

Critical Diagnostic Pathway

When EDS is suspected, the referral pathway should be: Primary care or gastroenterology screening → Medical genetics for definitive diagnosis and classification → Subspecialty referrals based on confirmed subtype and organ involvement. 1, 2 For suspected vascular EDS, urgent genetics referral and COL3A1 testing take absolute priority due to life-threatening implications. 1, 4