Ehlers-Danlos syndrome: anaesthesia and perioperative

Ehlers-Danlos syndrome: anaesthesia and perioperative

Ehlers-Danlos syndrome: recommendations for anaesthesia and perioperative management

Thomas Wiesmann, Marco Castori, Fransiska Malfait and Hinnerk Wulf summarise recommendations for general, obstetric and regional anaesthesia in patients with a rare, heritable connective tissue disorder.

Ehlers-Danlos syndrome (EDS, Orphanumber: ORPHA98249) is an umbrella term for a growing number of heritable connective tissue disorders, mainly featuring joint hypermobility and instability, skin texture anomalies and vascular and internal organ fragility [1–3]. The overall incidence is 1:10,000 to 1:25,000 with no ethnic predisposition [4], resulting in a presumed number of at least 20,000–50,000 EDS patients in North America. However, the real frequency is probably underestimated due to the general lack of awareness among the various disciplines of such a protean condition, especially for the most atypical presentations. Clinical manifestations range from extremely mild phenotypes to life-threatening complications. The current Villefranche nosology recognises six major subtypes, comprising classic (corresponding to EDS type I and II of the ‘old’ Berlin nosology), hypermobile (EDS type III), vascular (EDS type IV), kyphoscoliotic (type VIA), arthrochalasia (types VIIA and VIIB) and dermatosparaxis (type VIIC), most of which are linked to mutations in one of the genes encoding for fibrillar collagen proteins or enzymes involved in post-translational modification of these proteins. Recently, several new EDS variants have been defined clinically and genetically. In addition, there has recently been suggested a possible connection between…

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