Diagnosing Ehlers-Danlos Syndrome in Primary Care

Initial Screening Approach

Primary care providers should screen for hypermobile EDS (hEDS) using the Beighton score when patients present with disorders of gut-brain interaction, chronic joint pain, recurrent dislocations, or unexplained multisystem symptoms 1
The American College of Gastroenterology recommends screening patients who present with chronic joint or limb pain with recurrent dislocations or subluxations 2
The International Foundation for Functional Gastrointestinal Disorders recommends screening patients who present with gastrointestinal symptoms, such as functional gastritis, IBS, or reflux, which are present in up to 98% of hEDS patients 1, 3
The Ehlers-Danlos Society recommends screening patients who present with easy bruising without significant trauma 2
The American Autonomic Society recommends screening patients who present with orthostatic intolerance, such as lightheadedness or palpitations upon standing 3
The American Academy of Dermatology recommends screening patients who present with soft, velvety skin with normal or slightly increased extensibility 2

The 2017 international classification of Ehlers-Danlos syndrome recommends using the Beighton score to confirm joint hypermobility, with a score ≥5/9 points for adults under 50 years, ≥4/9 for adults over 50, and ≥6/9 for prepubertal children 2, 4
The Beighton score includes passive dorsiflexion of each fifth finger >90 degrees, passive apposition of each thumb to flexor surface of forearm, hyperextension of each elbow >10 degrees, hyperextension of each knee >10 degrees, and palms flat on floor when bending forward with knees extended 2
The diagnosis of hEDS requires the presence of joint hypermobility, soft or velvety skin, and the absence of skin or soft tissue fragility 2

The American College of Cardiology recommends ordering an echocardiogram to evaluate for aortic root dilation, which is present in 25-33% of hEDS cases 2, 4
The American Academy of Neurology recommends measuring postural vital signs, including heart rate increase ≥30 beats/min within 10 minutes of standing, to screen for POTS 1, 5
The North American Society for Pediatric Gastroenterology recommends performing celiac disease serological testing in hEDS patients with any GI symptoms 5

The American College of Medical Genetics recommends referring patients to medical genetics if vascular EDS is suspected, or if clinical features suggest other EDS subtypes 5
The American Heart Association recommends referring patients to cardiology if aortic root dilation is found on echocardiogram, or if POTS symptoms are refractory to lifestyle modifications 1, 2
The American Academy of Ophthalmology recommends referring patients to ophthalmology for a dilated eye exam to exclude Marfan syndrome 2, 4

The American College of Cardiology recommends repeating echocardiogram every 2-3 years in patients with normal aortic root until adult height is reached, and annually if aortic root dilation is present 2
The American Heart Association recommends repeating echocardiogram every 6 months if aortic root diameter is >4.5 cm in adults, or if the rate of increase is >0.5 cm/year 2