From the Guidelines
Ehlers-Danlos syndrome (EDS) is diagnosed through specific clinical manifestations and physical examination findings, with a diagnosis of hypermobility type established by meeting criteria including joint hypermobility confirmed by a score of 5 or more on the 9-point Beighton scale, soft or velvety skin with normal or slightly increased extensibility, and absence of skin or soft tissue fragility. The clinical manifestations of EDS can be identified through a thorough physical examination, focusing on key features such as joint hypermobility, skin characteristics, and other systemic signs.
- Key diagnostic criteria for hypermobile EDS include:
- Joint hypermobility, as assessed by the Beighton scale, which evaluates the ability to hyperextend joints beyond normal range, with a score of 5 or more indicating hypermobility 1
- Soft or velvety skin with normal or slightly increased extensibility
- Absence of skin or soft tissue fragility, which is suggestive of other EDS subtypes On physical examination, the Beighton scale is used to assess generalized joint hypermobility, with points awarded for:
- Passive dorsiflexion of each fifth finger >90 degrees (1 point each side)
- Passive apposition of each thumb to the flexor surface of the forearm (1 point each side)
- Hyperextension of each elbow >10 degrees (1 point each side)
- Hyperextension of each knee >10 degrees (1 point each side)
- Place palms flat on the floor when bending over with knees fully extended (1 point) 1. The diagnosis of EDS, particularly hypermobile EDS, relies heavily on clinical evaluation and physical examination findings, as outlined in the diagnostic criteria 1.
From the Research
Clinical Manifestations of Ehlers-Danlos Syndrome (EDS)
The clinical manifestations of EDS include:
- Joint hypermobility, skin hyperextensibility, and generalized tissue fragility 2
- Skin hyperextensibility, joint hypermobility (Beighton score > 5 points), and tissue fragility 3
- Easy bruising, joint hypermobility and fragility of skin, soft tissues, and some organs 4
- Tissue fragility, joint hypermobility, and skin hyperextensibility 5
Diagnostic Criteria on Physical Exam for EDS
The diagnostic criteria on physical exam for EDS include:
- Beighton score of more than 5 points 3
- Skin hyperextensibility, bruising, and soft skin 4
- Venous visibility, skin fragility, and acrogeria in patients with vascular EDS 4
- Subcutaneous spheroids and molluscoid pseudotumours in patients with classical EDS 4
- Mitral valve prolapse and aortic root dilatation in patients with hypermobile EDS 6
Other Common Features of EDS
Other common features of EDS include:
- Premature rupture of membranes, prematurity, neonatal hypotonia, congenital hip dislocation, unstable gait, bone fracture(s), motor delay, scoliosis, short stature, and positive family history 3
- Osteoporosis, as shown by complete bone mineral density study 3
- Cardiovascular manifestations, such as mitral valve prolapse, thoracic aortic dilatation, cervical artery dissection, spontaneous coronary artery dissection, and celiac artery pseudoaneurysm 6