Diagnostic Approach to Hypermobile Ehlers-Danlos Syndrome

Critical Diagnostic Steps

The American College of Medical Genetics and Genomics recommends COL3A1 gene mutation testing as the definitive diagnostic test for vascular EDS, which should be ordered immediately given the family history of aortic dissection and esophageal rupture 2.
The International Society for Autonomic Neuroscience suggests that a Beighton score ≥5 is required for the diagnosis of hypermobile EDS, which includes passive 5th finger dorsiflexion >90°, thumb to forearm apposition, elbow hyperextension >10°, knee hyperextension >10°, and palms flat on floor with knees extended 1, 2.
The European Society of Cardiology recommends an echocardiogram to evaluate the aortic root, as 25-33% of hEDS patients develop aortic root dilation, and repeat every 2-3 years until adult height if normal 1, 2.

The American Gastroenterological Association recommends continuing the prokinetic agent that previously provided significant improvement, likely metoclopramide, for gastroparesis management 5, 6.
The North American Society for Pediatric Gastroenterology, Hepatology and Nutrition suggests implementing a gastroparesis diet with 5-6 small frequent meals daily, low fat (<40g/day), low fiber, and prioritizing liquid calories 5, 6.
The American Heart Association recommends increasing fluid intake to 2-3 liters daily and salt intake to 10-12 grams daily for volume expansion in patients with postural orthostatic tachycardia syndrome (POTS) 5, 6.

The American College of Medical Genetics and Genomics recommends medical genetics consultation for definitive EDS diagnosis and classification, genetic counseling regarding inheritance patterns, and coordination of family screening 2.
The American Heart Association suggests cardiology referral for echocardiogram interpretation and surveillance planning 1, 2.
The American Autonomic Society recommends considering autonomic testing (tilt table) if POTS screening is positive 3, 2.
The Academy of Nutrition and Dietetics recommends nutrition consultation to prevent avoidant/restrictive food intake disorder (ARFID) development, which is common in this population with chronic GI symptoms 5, 6.