title: [Vascular Ehlers-Danlos syndrome].
abstract: The vascular type of Ehlers-Danlos syndrome (EDS) is a rare genetic disease transmitted as an autosomal dominant trait. It is distinguished from other forms of EDS by its unstable acrogeric morphotype and by vascular, gastrointestinal, and obstetrical complications. Diagnosis is based on various clinical signs, noninvasive imaging, and on the identification of a mutation of the COL3A1 gene, which provides diagnostic certainty but has a sensitivity of only 61%. When two major diagnostic criteria are present, a genetic test should be proposed, performed and its result presented in a multidisciplinary group. The precautionary principle requires that preventive measures be implemented when the diagnosis is suspected. All artery puncture, surgery, and gastrointestinal and uterine endoscopy are contraindicated, permissible only in life-threatening emergencies. Straining against a closed glottis and all other situations or drugs likely to raise blood pressure must be avoided. Contraception must be discussed to avoid pregnancy during the diagnostic period. Arterial lesions suggestive of the disease include dissecting aneurysms of the internal carotid and iliac arteries and of the anterior visceral branches of the abdominal aorta, fusiform aneurysms of the splenic artery, and early onset nontraumatic direct carotid-cavernous fistulae. Early-onset varicose veins, spontaneous peritonitis or unusually important perineal lesions after giving birth should also attract the physician's attention. Psychological treatment and support of patients and their families is essential, to help them both to live with their disease and to deal with the information and screening issues. The prognosis of Ehlers-Danlos syndrome, vascular type, is grim but there is wide interindividual variability and life expectancy is best among patients receiving regular follow-up. Management by an experienced multidisciplinary team, implementation of drastic prevention measures and, depending on the results of the BBEST study, the possible prescription of beta-blockers should help to reduce the risk of complications and justify hope for a real improvement in prognosis in the near future.
authors.affiliation: Groupe Multidisciplinaire de Prise en Charge du Syndrome d'Ehlers-Danlos Vasculaire, Hôpital européen Georges Pompidou, Paris. contact@maladiesvasculairesrares.fr
authors.forename: Jérôme
authors.initials: J
authors.lastname: Perdu
authors.forename: Pierre
authors.initials: P
authors.lastname: Boutouyrie
authors.forename: Khadija
authors.initials: K
authors.lastname: Lahlou-Laforêt
authors.forename: Philippe
authors.initials: P
authors.lastname: Khau Van Kien
authors.forename: Nicolas
authors.initials: N
authors.lastname: Denarié
authors.forename: Elie
authors.initials: E
authors.lastname: Mousseaux
authors.forename: Marc
authors.initials: M
authors.lastname: Sapoval
authors.forename: Pierre
authors.initials: P
authors.lastname: Julia
authors.forename: Frank
authors.initials: F
authors.lastname: Zinzindohoué
authors.forename: Philippe
authors.initials: P
authors.lastname: Touraine
authors.forename: Yves
authors.initials: Y
authors.lastname: Dumez
authors.forename: Denis
authors.initials: D
authors.lastname: Trystram
authors.forename: Catherine
authors.initials: C
authors.lastname: Vignal-Clermont
authors.forename: Anne-Paule
authors.initials: AP
authors.lastname: Gimenez-Roqueplo
authors.forename: Xavier
authors.initials: X
authors.lastname: Jeunemaitre
authors.forename: Jean-Noël
authors.initials: JN
authors.lastname: Fiessinger
mesh_terms: D000328:Adult; D001205:Ascorbic Acid / Q000627:therapeutic use; D017272:Celiprolol / Q000627:therapeutic use; D002648:Child; D002986:Clinical Trials as Topic; D024061:Collagen Type III / Q000235:genetics; D003267:Contraception; D004535:Ehlers-Danlos Syndrome / Q000150:complications / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D011247:Pregnancy; D011248:Pregnancy Complications; D011379:Prognosis; D014057:Tomography, X-Ray Computed; D018608:Ultrasonography, Doppler; D014665:Vasodilator Agents / Q000627:therapeutic use
chemical_list: C439971:COL3A1 protein, human; D024061:Collagen Type III; D014665:Vasodilator Agents; D017272:Celiprolol; D001205:Ascorbic Acid