What about the patient care of Vascular Ehlers-Danlos Syndrome? / Qu’en est-il de la prise en charge du Syndrome d’Ehlers-Danlos de type vasculaire?

The Ehlers-Danlos syndromes (EDS) are disorders affecting the connective tissue. There are thirteen different types of EDS. My master thesis focuses on vascular EDS (vEDS) that is caused by a mutation in COL3A1: the gene coding for collagen type III. Affected patients suffer from organ or vessel ruptures that may be fatal: median age of life expectancy is about 51 years old. There is nowadays no curative treatment for vEDS. The purpose of this master thesis is to assess the best way to manage these patients. The first section of this work concerns the disease. Pathogenesis, clinical features, natural history, prognosis and genotype-phenotype correlations are described. Criteria leading to diagnosis and allowing differential diagnosis are reported. Management is then developed: it is crucial for these patients. There is no real treatment for this disease, so clinical support represents a large part of patient care. Clinical support includes adapted clinical care and life-style, teamcare and follow-up. A preventive treatment is proposed: celiprolol. Studies about this drug, its efficacy and its mechanisms of action (including its effect on blood vessels structure) are described: no real conclusion can be made. Pregnancy in women with vEDS is associated with a high risk of complications: following some recommendations is important. Finally, some perspectives are developed about future therapeutic targets. Some going on studies about treatments, medical evaluation and the pathophysiology of vEDS are also mentioned. These perspectives are of crucial importance to help further and to treat patients affected by vEDS and their relatives.