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Multicenter Study
. 2015 Jan 15;125(3):553-61.
doi: 10.1182/blood-2014-06-582866. Epub 2014 Oct 15.

Natural history of patients with congenital dysfibrinogenemia

Alessandro Casini  1 , Marc Blondon  1 , Aurélien Lebreton  2 , Jérémie Koegel  3 , Véronique Tintillier  4 , Emmanuel de Maistre  5 , Philippe Gautier  6 , Christine Biron  7 , Marguerite Neerman-Arbez  3 , Philippe de Moerloose  1
Affiliations
Multicenter Study

Natural history of patients with congenital dysfibrinogenemia

Alessandro Casini et al. Blood. .

Abstract

We conducted a multicenter study of 101 patients 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 thrombotic events was 2.5 and 18.7 per 1000 patient-years, respectively, with estimated cumulative incidences at age 50 years of 19.2% and 30.1%. We identified 111 pregnancies with an overall incidence of spontaneous abortions and postpartum hemorrhage of 19.8% and 21.4%, respectively. The risk of postpartum hemorrhage was associated with a previously identified bleeding phenotype (odds ratio, 5.8; 95% CI, 1.2 to 28.0). Among 137 surgical procedures analyzed, 9 (6.5%) were complicated by abnormal bleeding. Propositi vs 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 postpartum hemorrhage, but also of thrombotic event.

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Figures

Figure 1
Figure 1
Kaplan-Meier estimated cumulative probability. (A) Incident bleeding events and (B) incident thrombotic events. Marks on failure curves represent censoring times. The 95% lower and upper confidence intervals are depicted by the dashed lines.
Figure 2
Figure 2
Kaplan-Meier estimated cumulative probability of all thrombotic outcomes, venous thrombotic outcomes and arterial thrombotic outcomes.
See this image and copyright information in PMC

References

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