From ignorance to denial about an orphan, but no rare, genetic disease: Ehlers-Danlos Syndrome (EDS type III)

dc.creator	Claude Hamonet
dc.creator	Jean-David Zeitoun
dc.date	2012-07-01T00:00:00Z
dc.date.accessioned	2015-08-12T11:17:20Z
dc.date.available	2015-08-12T11:17:20Z
dc.identifier	10.5430/jnep.v2n4p86
dc.identifier	1925-4040
dc.identifier	1925-4059
dc.identifier	https://doaj.org/article/a04c19eed8ba4bb981c63eee6730afd9
dc.identifier.uri	http://evidence.thinkportal.org/handle/123456789/26251
dc.description	The development of medicine is increasingly based on biology and medical imaging keeps the doctor away from the bedside. In addition, both doctors and patients believe less and less in clinical medicine. This is compounded by poor application of evidence-based medicine and leads to give probative value to biological tests and, in particular, genetic tests. One can add the fragmentation of medical practice in specialties and subspecialties which hampers a comprehensive view of the patient. This and some medical prejudices, including a lack of confidence in the patient, explain that a poorly described disease, with multiple manifestations, without biological or radiological test, has very little chance of being recognized. This is the case of a multi painful hemorrhagic hypermobile syndrome with asthenia, called Ehlers-Danlos syndrome (EDS) which, despite its relative frequency, continues to be ignored by almost all of the medical profession. This leads to a delay in diagnosis of about 21 years for women and 15 years for men, after the onset of symptoms, and leaves in ignorance people with a genetically transmitted disease. Our approach relies on clinical observation of 612 cases that we have personally received in consultation at the hospital.<br />
dc.language	English
dc.publisher	Sciedu Press
dc.relation	http://www.sciedu.ca/journal/index.php/jnep/article/view/661
dc.relation	https://doaj.org/toc/1925-4040
dc.relation	https://doaj.org/toc/1925-4059
dc.source	Journal of Nursing Education and Practice, Vol 2, Iss 4 (2012)
dc.subject	Special aspects of education
dc.subject	LC8-6691
dc.subject	Education
dc.subject	L
dc.subject	DOAJ:Education
dc.subject	DOAJ:Social Sciences
dc.subject	Special aspects of education
dc.subject	LC8-6691
dc.subject	Education
dc.subject	L
dc.subject	DOAJ:Education
dc.subject	DOAJ:Social Sciences
dc.subject	Special aspects of education
dc.subject	LC8-6691
dc.subject	Education
dc.subject	L
dc.subject	Special aspects of education
dc.subject	LC8-6691
dc.subject	Education
dc.subject	L
dc.subject	Special aspects of education
dc.subject	LC8-6691
dc.subject	Education
dc.subject	L
dc.title	From ignorance to denial about an orphan, but no rare, genetic disease: Ehlers-Danlos Syndrome (EDS type III)
dc.type	article