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Ehlers-Danlos Syndrome




Ehlers-Danlos syndrome (EDS) is a rare hereditary disorder that results in skin hyperextensibility, joint hypermobility, and tissue fragility. This syndrome is caused by a gene defect which results in faulty collagen synthesis.

Patients may experience debilitating musculoskeletal pain, frequent joint subluxations/dislocations, and early onset of osteoarthritis. Additional features include fatigue, development of hernias, increased risk of aortic root dilation, and mitral valve prolapse.

Postural orthostatic tachycardia syndrome (POTS) is a type of dysautonomia that may affect patients with EDS. It is associated with an abnormal increase in heart rate after standing upright. Patients frequently experience lightheadedness, syncope, palpitations, nausea, fatigue, headache, or dizziness. Because of these symptoms, many patients struggle with their activities of daily living including work and exercise.

Joint hypermobility may be assessed using the Beighton scale. A score of 5/9 or greater defines hypermobility. The total score is obtained by performing the following maneuvers:

Dorsiflexion of the fifth finger > 90 degrees with forearm flat; one point for each hand.
Passive apposition of the thumb to the flexor aspect of the forearm; one point for each hand.
Hyperextension of elbow > 10 degrees; one point for each elbow.
Hyperextensibility of the knee > 180 degrees; one point for each knee.
Flexion of waist with palms on the floor; one point.