Ehlers-Danlos Syndrome or Disease?

Published in Avens Publishing Group, 5/17/2016

Although first described in 1892 by Tschernogobow in Moscow, the medical history of Ehlers-Danlos syndrome (EDS) begins with Edward Ehlers’s description in 1900 in Copenhagen. Several avatars would come to stymie its identification to this day, despite its frequency, and foster confusion with other pathologies. The first of these is the description by Alexandre Danlos (1908), who particularly emphasized a sign: excessively stretchable skin which would become solidly anchored in the minds of doctors who, even today, use it to rule out the diagnosis if it is not found. In 1933, in Paris, Achille Miget based his doctoral thesis (Syndrome d’Ehlers-Danlos) in medicine on a new case, and expressed doubts about the identity of Danlos’case. This case is, in fact, a Pseudoxanthoma elasticum. The second avatar was the introduction of identification and classification based on mutations of various collagens, by associating one or several types of collagen with a set of clinical manifestations. The clinical differences between the various types are tenuous; excessive skin stretch ability and hypermobility are found in both the classical form and hyper mobile forms, aneurysms, can be found in every type of EDS. Rheumatologists first addressed this syndrome on the basis of hypermobility, describing it as benign. Prof. Grahame was the first to make a shift in the clinical perception of the syndrome and progressively added other manifestations (i.e. pain). They thus bridged the gap between joint hypermobility syndrome and EDS-hyper mobile type. Now EDS appears as a reliable clinical entity, characterized by patterns of easy-to-identify clinical symptoms, which have very strong diagnostic value, when taken together with the existence of similar cases in a patient’s family. We describe it from 644 of our first patients (out of 2,213 patients). We have selected certain signs which are particularly significant in terms of their frequency and because they agree with signs also described by other authors: diffuse pains, fatigue and problems with vigilance, joint hypermobility, fragility of skin, tendency to haemorrhages, proprioceptive disturbances, dystonia, constipation, gastro-oesophagal reflux, dyspnea, sensations of respiratory blockage, dysautonomia, oral/ dental, ENT, visual symptoms, and cognitive difficulties. It has been proposed a discussion about the choice of syndrome or disease for Ehlers-Danlos, the semiological anarchy may have originated in the method for identifying diseases (the nosology) set up in the 18th century by physicians who were also botanists (i.e. Boissier de Sauvages, 1771; Cullen, 1769; Linnaeus, 1759). The syndrome is “a list of symptoms that are not necessarily related to specific diseases” (Littre, 1875). The usual medical culture perceives a disease as an entity that has an etiological basis, which presents a characteristic clinical picture, and which requires appropriate treatment. This is the case for Ehlers-Danlos Disease, a term that should be preferred to that of EDS.

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