Colorectal cancer screening in patients with inherited bleeding disorders: high cancer detection rate in hemophilia patients

Eva K. Kempers, Calvin B. van Kwawegen, Joke de Meris, Manon C. W. Spaander, Saskia E. M. Schols, Paula F. Ypma, Floor C. J. I. Heubel-Moenen, Lize F. D. van Vulpen, Michiel Coppens, Johanna G. van der Bom, Karin Fijnvandraat, Karina Meijer, Jeroen Eikenboom, Samantha C. Gouw, Frank W. G. Leebeek, Marieke J. H. A. Kruip*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Background: The population-based colorectal cancer (CRC) screening program in individuals aged 55 to 75 years in the Netherlands uses fecal immunochemical testing (FIT), to detect hemoglobin in feces, followed by colonoscopy in individuals with a positive FIT. Objectives: The objectives of this study are to assess the false-positive rate, detection rate, and positive predictive value of FIT for CRC and advanced adenoma (AA) in patients with Von Willebrand disease (VWD) or hemophilia. Methods: We performed a multicenter, nationwide cross-sectional study embedded in 2 nationwide studies on VWD and hemophilia in the Netherlands. Results: In total, 493 patients with hemophilia (n = 329) or VWD (n = 164) were included, of whom 351 patients participated in the CRC screening program (71.2%). FIT positivity and false-positive rate in patients with hemophilia and VWD were significantly higher than those in the general population (14.8% vs. 4.3%, p <.001 and 10.3% vs. 2.3%, p <.001, respectively). In patients with hemophilia, the detection rate of CRC/AA was significantly higher than that in the general male population (4.5% vs. 1.8%, p =.02), and the positive predictive value of FIT for CRC/AA was comparable (32.3% vs. 39.7%, n.s.). In patients with VWD, the detection rate was similar to that of the general population (0.8% vs. 1.4%, n.s.), whereas the positive predictive value was significantly lower than that in the general population (6.3% vs. 36.8%, p =.02). Conclusion: This study indicates that despite a high false-positive rate of FIT in patients with inherited bleeding disorders, the detection rate of CRC and/or AA in hemophilia patients is high. FIT performs different in patients with hemophilia or VWD compared with the general population.

Original languageEnglish
Pages (from-to)1177-1188
Number of pages12
JournalJournal of Thrombosis and Haemostasis
Issue number5
Early online date2023
Publication statusPublished - May 2023
Externally publishedYes

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