Natural history of patients with congenital dysfibrinogenemia

Article Article scientifique Article Natural history of patients with congenital dysfibrinogenemia eng 2015 author Casini Alessandro 0000-0001-7910-933X 510964 author Blondon Marc 0000-0001-7032-9491 503046 author Lebreton Aurelien author Koegel Jeremie 670228 author Tintillier Véronique author de Maistre Emmanuel author Gautier Philippe author Biron Christine author Neerman Arbez Marguerite 0000-0002-9351-4195 27647 author De Moerloose Philippe 26335 553-561 10.1182/blood-2014-06-582866 25320241 0006-4971 We conducted a multicentre study of 101 subjects with Congenital Dysfibrinogenemia (CD) to characterize the incidence of hemorrhagic and thrombotic events as well as complications of pregnancy and surgery. At the time of diagnosis, 10.9% and 13.9% had experienced major bleeding and thrombotic events, respectively. During a mean follow-up of 8.8 years after CD diagnosis, the incidence of major bleeding and of thrombotic events was 2.5 and 18.7 per 1000 patient-years respectively, with estimated cumulative incidences at an age of 50 years of 19.2% and 30.1%. We identified 111 pregnancies with an overall incidence of spontaneous abortions and post-partum hemorrhage of 19.8% and 21.4%, respectively. The risk of post-partum hemorrhage was associated with a previously identified bleeding phenotype (OR 5.8; 95%CI 1.2-28.0). Among 137 surgical procedures analyzed, 9 (6.5%) were complicated by abnormal bleeding. Propositi versus relatives, sex, mutation hotspots, fibrinogen levels and activity:antigen ratios were not associated with the risk of thrombotic or bleeding outcomes. In conclusion, the results of our study, the largest in genotyped CD and the first including long term history, indicate that propositi with CD and their relatives carry not only a high risk of major bleeding, including post-partum hemorrhage, but also of thrombotic event. Dewey 616 Dewey 576.5 135 Département de médecine génétique et développement 21D 56 Département de médecine 221 false 11 Plaquettes et antithrombotiques 13 258 Recherche translationnelle : anomalies de l'hémostase et thromboses 504 1407 Fibrinogène et structure du caillot 1045 Blood 125 3 9a9a0ad8-fcff-4b4b-b163-12fa366bd904 Article (Accepted version) Restricted BLOOD-2014-582866 accepted.pdf 151346 application/pdf restrictedAccess Faculté de médecine / Section de médecine fondamentale / Département de médecine génétique et développement Faculté de médecine / Section de médecine clinique / Département de médecine

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Natural history of patients with congenital dysfibrinogenemia	Blood			2015	738	4

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Koegel, Jeremie