Despite High False-Positive Rate of FIT, Patients With Hemophilia Have High CRC Detection Rate

The detection rate of colorectal cancer (CRC) and/or advanced adenoma (AA) in patients with hemophilia is high, according to a recent study, which noted that patients with inherited bleeding disorders have a high false-positive rate of fecal immunochemical testing (FIT).

The data, coming from the Netherlands, follows the implementation of a CRC screening program that uses FIT among people aged 55 to 75 years to detect human hemoglobin. If positive, the patient is referred for a colonoscopy to test for AA and CRC. The program, which has led to a decrease in the rate of advanced-staged CRC, is expected to reduce CRC-related mortality.

“So far, no studies have been conducted on the performance of the CRC screening program in a selected cohort of patients with inherited bleeding disorders, such as Von Willebrand disease (VWD) and hemophilia, whereas the outcome of screening in these patients may substantially differ from that of the general population,” explained the researchers, adding, “False-positive FIT results may occur because of bleeding from other sources than CRC and/or AA.”

The researchers underscored the importance of their findings for a wide group of patients with inherited bleeding disorders, as most CRC screening programs across the globe use FIT. Performing a multicenter, nationwide cross-sectional study embedded in 2 nationwide studies, the group included nearly 500 patients with hemophilia or WVD.

Studying results from the FIT among the 350 patients participating in the CRC screening program, the researchers found that the false-positive rate was significantly higher in both patients with hemophilia and with VWD compared with the general population (14.8% vs. 4.3%, P < .001 and 10.3% vs. 2.3%, P <.001, respectively).

“Apart from the bleeding disorder, the use of NSAIDs and anti-coagulant therapy in our study population (7.6% and 15% of patients with hemophilia and VWD, respectively) may have contributed to the higher FIT positivity and false-positive rate we found in comparison to the general population,” wrote the researchers. “Moreover, although only a minority of our study population was affected by chronic complications related to hepatitis C, such as liver cirrhosis and bleeding from esophageal varices or gastric lesions, these might also have contributed to the higher false-positive rate in patients with hemophilia.”

Compared with the general population, the detection rate of CRC/AA was significantly higher in patients with hemophilia (4.5% vs 1.8%, P = .02) and was similar in patients with VWD (0.8% vs. 1.4%). While the possible predictive value of FIT for CRC/AA was comparable for patients with hemophilia and the general population (32.3% vs. 39.7%), it was significantly lower for patients with VWD compared with the general population (6.3% vs. 36.8%, P = .02).

The researchers outlined several potential factors that could have contributed to the higher detection rate, including that HIV and hepatitis C virus (HCV) was present in 45% and 3% of patients with hemophilia in the study, respectively, which is associated with an increased risk of CRC. However, the researchers noted that just 5% of patients with HCV had active infection at the time of the study.

They also noted that a higher bleeding tendency of premalignant lesions in the colon and men having a higher detection rate than women could have contributed to the finding. While all patients with hemophilia in the study were men, the detection rate was still significantly higher than that of the general male population.

Reference

Kempers E, Kwawegen C, Meris J, et al. Colorectal cancer screening in patients with inherited bleeding disorders: high cancer detection rate in hemophilia patients. J Thromb Haemost. Published online December 13, 2022. doi:10.1016/j.jtha.2022.12.004