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A review of Ehlers-Danlos syndrome
1At the time this article was written, Erin Miller was a student in the PA program at Marietta (Ohio) College. She now practices urgent care and occupational health with McLaren Health in Flint, Mich. John M. Grosel is a radiologist at Riverside Radiology and Interventional Associates, Inc., based in Columbus, Ohio, and a McCoy associate professor in the PA program at Marietta College. The authors have disclosed no potential conflicts of interest, financial or otherwise.
Abstract:
Ehlers-Danlos syndrome (EDS) describes a group of heritable disorders of connective tissue comprising mutations in the genes involved in the structure and/or biosynthesis of collagen. Thirteen EDS subtypes are recognized, with a wide degree of symptom overlap among subtypes and with other connective tissue disorders. The clinical hallmarks of EDS are tissue fragility, joint hypermobility, and skin hyperextensibility. Appropriate diagnosis of EDS is important for correct multidisciplinary management and is associated with better clinical outcomes for patients.
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