Symptoms of Hypermobile Ehlers-Danlos Syndrome
Hypermobile Ehlers-Danlos syndrome (hEDS) presents with a triad of generalized joint hypermobility, chronic musculoskeletal pain, and characteristic skin findings, but extends far beyond these core features to affect multiple organ systems including cardiovascular, gastrointestinal, autonomic, and neuropsychiatric domains. 1
Core Musculoskeletal Manifestations
The defining musculoskeletal features include:
- Joint hypermobility confirmed by Beighton score ≥5/9 points for adults under 50 years, ≥4/9 for those over 50, and ≥6/9 for prepubertal children 1, 2
- Recurrent joint dislocations or subluxations affecting multiple joints, particularly shoulders, patellae, and digits 2, 3
- Chronic joint and limb pain that is persistent and often severe, with 43% of patients experiencing severe pain levels 3, 4
- Easy bruising without significant trauma 2
Skin and Soft Tissue Features
- Soft or velvety skin texture with normal or slightly increased extensibility 2, 3
- Tissue fragility leading to poor wound healing and atrophic scarring 2
- Skin hyperextensibility as part of the defining triad 2
Gastrointestinal Symptoms
GI manifestations are remarkably common, affecting up to 98% of hEDS patients 5:
- Nausea and abdominal pain are the most predictive symptoms of abnormal GI motility 1
- Severe constipation, bloating, diarrhea, and vomiting 1
- Early satiety suggesting delayed gastric emptying 1
- Gastroesophageal reflux and gastritis 6
- Functional gastrointestinal disorders consistent with disorders of gut-brain interaction 1, 3
Cardiovascular Manifestations
- Aortic root dilation occurs in 25-33% of hypermobile EDS cases 5, 2
- Postural Orthostatic Tachycardia Syndrome (POTS) with heart rate increase ≥30 beats/min within 10 minutes of standing in adults (≥40 beats/min in adolescents 12-19 years) 1
- Palpitations and tremulousness 1
Autonomic Dysfunction Symptoms
Beyond POTS, autonomic symptoms include:
- Orthostatic intolerance with lightheadedness and generalized weakness 1
- Fatigue that is chronic and debilitating 3, 4
- Blurred vision upon standing 1
- Cognitive dysfunction (brain fog) 1
- Bladder dysfunction 1, 3
Neuropsychiatric Features
- Anxiety disorders are commonly associated 3, 7
- Depression shows significant genetic correlation with hEDS 7
- Chronic pain syndromes including fibromyalgia-like presentations 7
- Myalgic encephalomyelitis/chronic fatigue syndrome overlap 7
Immune and Allergic Manifestations
When Mast Cell Activation Syndrome (MCAS) is present:
- Flushing and urticaria 6
- Wheezing and respiratory symptoms 5
- Multisystem symptoms triggered by foods, alcohol, strong smells, temperature changes, and specific medications 6
- Up to 40% of patients report a viral infection as the precipitating event 1
Additional Systemic Symptoms
- Pelvic and bladder dysfunction 3
- Migraine headaches 7
- Mobility disability affecting two-thirds of patients at high levels 4
Critical Clinical Pitfall
Do not dismiss patients with isolated GI symptoms as having only functional disorders—systematically screen for joint hypermobility using the Beighton score, as the multisystem nature of hEDS means GI symptoms may be the presenting complaint in an undiagnosed patient. 1 The diagnostic delay averages several years and directly correlates with worse pain outcomes, making early recognition essential 4.