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

Abstract

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.