Progress in the diagnosis of endometriosis

Researchers from the University of Bern and Inselspital and University Hospital Bern, in collaboration with Australian scientists, are developing a rapid and non-invasive endometriosis test using menstrual samples.

Endometriosis is a disease of the endometrium that affects 10 to 15 percent of girls and women of childbearing age. Typical symptoms include severe abdominal pain and decreased fertility. About a quarter of women who do not become pregnant suffer from endometriosis.

In endometriosis, cells of the uterine lining settle outside the uterus, for example in the abdomen. The intestines or lungs can also be affected. How this happens has not yet been clarified in all detail. It is possible that so-called retrograde menstruation, in which part of the menstrual blood flows through the fallopian tubes back into the abdominal cavity, plays an important role. However, retrograde menstruation occurs in about 8 out of 10 women and only a portion of them develop endometriosis.

Laparoscopy (abdominal endoscopy) is currently the most common diagnostic method to detect endometriosis without any doubt. This examination is performed under general anesthesia and, like any surgical procedure, carries certain risks.

Special cell type in the endometrium of women with endometriosis

Now, a scientific study in which researchers from the University of Bern and Inselspital played a key role could lead to the development of a rapid and non-invasive endometriosis test. In the study, which appeared in the prestigious journal Natur Communications and was conducted in collaboration with researchers from Australia, tissue samples of the endometrium of ten women with endometriosis and nine women without endometriosis were analyzed.

In search of possible variations in the endometrium that could lead to the development of endometriosis, the research team characterized 33,758 tissue sample cells using single-cell RNA sequencing. This modern molecular biology technique allowed the researchers to measure the activity of several thousand genes in a cell. Using computer modeling, they were able to compare these results with the clinical findings of the 19 study participants.

In doing so, the researchers were able to identify a subset of connective tissue cells that is predominantly found in the endometrium of women with endometriosis, but not in women without endometriosis.

Continue research for a non-invasive endometriosis test

“Our research suggests that with these cells we have a biomarker that can distinguish women with and without endometriosis,” explains Prof. Michael Mueller, MD, co-director of the University Department of Gynecology at Inselspital. “If our results are confirmed in a large group, a rapid and non-invasive diagnostic test for endometriosis could be developed based on our research, as the biomarker cells are shed at the end of each month with menstruation. This means the minimum amount of blood is regularly available to study the presence of any marker cells.”

As a next step, the researchers are planning follow-up studies with a larger cohort of more than a thousand patients to validate their findings.

Source: Press release (German)