Can a PCP Diagnose Ehlers-Danlos Syndrome?
A primary care physician can initiate the diagnostic evaluation for hypermobile EDS (hEDS) using the diagnostic checklist from the Ehlers-Danlos International Consortium, but genetic testing to exclude alternative diagnoses is mandatory before confirming the diagnosis—and this typically requires specialist involvement. 1
Initial Diagnostic Assessment by PCP
A PCP can perform the initial clinical screening using standardized criteria:
Calculate the Beighton score (≥5/9 points required), which includes: passive dorsiflexion of fifth fingers >90°, passive thumb apposition to flexor forearm surface, elbow hyperextension >10°, knee hyperextension >10°, and forward bend with palms flat on floor with knees extended 1
Assess skin characteristics for soft or velvety texture with normal or slightly increased extensibility, while confirming absence of skin/soft tissue fragility (which distinguishes hEDS from other dangerous EDS subtypes) 1
Document supportive minor criteria including recurrent joint dislocations/subluxations, chronic joint or limb pain, easy bruising, functional bowel disorders, and neurally mediated hypotension or postural orthostatic tachycardia syndrome 1
Obtain three-generation family history focusing on joint hypermobility and connective tissue features, with autosomal dominant pattern without skin abnormalities being supportive 1
Critical Limitation: Genetic Testing is Mandatory
Do not diagnose hEDS without genetic testing to exclude alternative diagnoses, as 26.4% of clinically diagnosed cases had alternative genetic conditions requiring completely different management. 1 This is where PCP diagnosis alone becomes insufficient:
Genetic testing is required for definitive diagnosis of all EDS subtypes except hypermobile type, but paradoxically must still be performed in suspected hEDS cases to exclude other conditions 2, 3
No monogenic cause has been identified for hEDS, making it a diagnosis of exclusion that requires ruling out the 12 other monogenic EDS types caused by pathogenic variants in 21 confirmed genes 3
The 2017 International Classification recognizes 13 EDS subtypes with vast genetic heterogeneity and phenotypic variability, creating clinical overlap that necessitates molecular confirmation 2
Essential Baseline Testing Before Referral
If clinical criteria are met, the PCP should order baseline studies before genetics referral:
Echocardiogram is mandatory to evaluate for aortic root dilatation, which occurs in 25-33% of classic and hypermobility types 1, 4
Baseline vascular imaging from head to pelvis using non-invasive methods (Doppler ultrasound, CT, or MRI) is essential to evaluate the entire aorta and branches, particularly to screen for vascular EDS which carries fatal complication risks 1, 5
When to Refer to Genetics/Specialist
Referral to medical genetics or a connective tissue disorder specialist is necessary for:
Molecular confirmation through genetic testing to identify causative variants or exclude the 12 monogenic EDS subtypes 2, 3
Multidisciplinary management planning involving cardiology, gastroenterology, and physical medicine specialists 5
Distinguishing hEDS from other joint hypermobility disorders using revised clinical criteria that require specialist expertise 2
Common Pitfalls to Avoid
Do not make a definitive EDS diagnosis based solely on clinical criteria, even if the diagnostic checklist is completely satisfied—genetic exclusion of alternative diagnoses is mandatory 1
Do not miss vascular EDS (Type IV), which presents with short slim build, prematurely aged hands, triangular faces, and carries risk of spontaneous arterial dissection and rupture even without significant vessel dilation 6, 5
Avoid invasive diagnostic procedures if vascular EDS is suspected, as these carry fatal complication risk—use only non-invasive imaging 1, 5
Screen for associated conditions including POTS, mast cell activation disorder, and chronic urinary retention, which frequently co-occur and require specific management 6, 1