Investigation Of endometriosis symptoms and tumor marker CA 125 in patients With hereditary Von Willebrand disease

Women with hereditary Von Willebrand Disease (VWD) show prolonged and heavy menstrual bleeding as common symptoms. According to Sampson’s theory retrograde menstruation can be a cause of endometriosis, a condition defined by the presence of endometrial tissue in extrauterine locations. Therefore, our hypothesis is that women with stronger retrograde menstruation due to VWD have a higher chance of developing endometriosis. The aim of this non-interventional single-center study is to investigate a possible association between the two diseases and to evaluate the use of tumor marker CA125 determination and a gynecological questionnaire as a screening tool for endometriosis.

Female adult patients prior to climacteric with hereditary VWD of all types and all degrees of severity are recruited during routine visits. As primary endpoint the frequency of patients with elevated serum levels of CA 125 is determined. CA 125 is often elevated in patients with endometriosis. Secondary, every patient receives a questionnaire about the gynecological history including previous gynecological surgeries as well as symptoms known to be associated with endometriosis. Additional data is collected about age, known cancer disease(s), current infections, ISTH BAT Bleeding Score, VWD type, actual VWD parameters and therapy. Data will be analyzed using descriptive statistics. Correlations between endometriosis symptoms, levels of CA 125, blood coagulation parameters and ISTH BAT Score will be assessed.

To date 32 patients were included in the study. Their characteristics are displayed in Table 1. The mean concentration of CA 125 was 20,84 U/ml (range: 4,4 – 112, SD 23,98). Out of 4 patients (12,9%) who showed elevated levels of CA 125, 1 patient was later diagnosed with endometriosis. 5 patients (15,6%) underwent surgery for (suspected) endometriosis in the past resulting in 3 confirmed diagnoses. In total 4 patients (12,5%) in the study group had confirmed endometriosis. The evaluation of the questionnaire showed the following: 26 patients (83,9%) were suffering from painful menstruation. 15 patients (50%) reported either occasional or frequent painful intercourse. 12 patients (37,5%) reported painful defecation. 5 patients (16,1%) reported painful urination ([Tab. 1]).

Though the rate of confirmed endometriosis lies within the range of the general population there seems to be a high prevalence of symptoms associated with endometriosis among this group of women with VWD. However, the still very small sample size of 32 patients does not yet allow for any definitive statements regarding the association between VWD and endometriosis. If an association can be shown, awareness of endometriosis potentially being a frequent disease among women with VWD could lead to earlier detection and initiation of therapy. Publication History Article published online: 20 February 2023 © 2023. Thieme. All rights reserved. Georg Thieme Verlag Rüdigerstraße 14, 70469 Stuttgart, Germany