What are the symptoms of Ehlers-Danlos Syndrome (EDS)?

Symptoms of Ehlers-Danlos Syndrome

The hallmark symptoms of Ehlers-Danlos Syndrome are joint hypermobility, skin hyperextensibility with abnormal texture, and tissue fragility, though the specific manifestations vary significantly by subtype. 1, 2

Core Clinical Features Present Across Most EDS Subtypes

Joint Manifestations

• Generalized joint hypermobility assessed using the Beighton scale (≥5/9 points required for diagnosis in adults under 50), including passive dorsiflexion of fifth fingers >90°, thumb apposition to forearm, elbow hyperextension >10°, knee hyperextension >10°, and ability to place palms flat on floor with knees extended 1
• Recurrent joint dislocations or subluxations affecting multiple joints 1
• Chronic joint and limb pain that can be severely disabling 1

Skin Manifestations

• Soft, velvety skin texture with normal or mildly increased extensibility in hypermobile type 1
• Skin hyperextensibility (ability to stretch skin beyond normal limits) more prominent in classic type 3, 2, 4
• Easy bruising without significant trauma 1, 5
• Abnormal wound healing with atrophic scarring 3, 2, 4
• Skin fragility with tissue tearing from minor trauma 3, 2

Cardiovascular Symptoms (Critical for Morbidity/Mortality)

• Aortic root dilation occurs in 25-33% of patients with classic and hypermobile EDS types, though dissection risk is low without significant dilation 1
• Thin, translucent skin with visible veins specifically suggests vascular EDS, the most life-threatening subtype 6, 5
• Characteristic facial features in vascular EDS including thin nose, thin upper lip, small earlobes, and prominent eyes 5

Critical caveat: Vascular EDS (type IV) carries significant mortality risk from arterial or organ rupture, with median survival of 48 years. This subtype requires urgent COL3A1 genetic testing and specialized vascular surveillance. 6, 5

Gastrointestinal Symptoms

• Functional bowel disorders including irritable bowel syndrome and functional gastritis affect up to 98% of hypermobile EDS patients 1, 6
• Gastroesophageal reflux requiring proton pump inhibitors 1
• Delayed gastric emptying causing early satiety and nausea 1
• Chronic abdominal pain and bloating 6
• Pelvic floor dysfunction with incomplete evacuation 6

Autonomic Dysfunction

• Neurally mediated hypotension or postural orthostatic tachycardia syndrome (POTS) with heart rate increase ≥30 bpm within 10 minutes of standing 1, 6
• Orthostatic intolerance symptoms including dizziness, lightheadedness, and presyncope 6

Musculoskeletal Complications

• Chronic pain syndromes requiring multidisciplinary pain management 1
• Osteoporosis with increased fracture risk 1
• Functional disability from joint instability 1

Additional Manifestations

• Pneumothorax (spontaneous lung collapse) 1
• High, narrow palate with dental crowding 1
• Dural ectasia (spinal membrane widening) 1
• Protrusio acetabuli (hip socket abnormality) 1

Subtype-Specific Considerations

The hypermobile type (most common, 80-90% of cases) presents primarily with joint and pain symptoms, while maintaining relatively normal skin. 6 In contrast, classic EDS shows more prominent skin hyperextensibility and fragility. 3, 4 Vascular EDS is distinguished by life-threatening arterial complications and characteristic facial features requiring immediate genetic testing and vascular imaging. 6, 5

Important pitfall: Failure to recognize vascular EDS can be fatal, as invasive diagnostic procedures can trigger arterial rupture or dissection. Any patient with thin translucent skin, characteristic facial features, or family history of sudden death requires urgent COL3A1 testing before any invasive procedures. 6, 5