Endometriosis researchers are one step closer to new diagnosis and treatment options

New data has been published from a nationwide clinical study in efforts to help those who have endometriosis.

Endometriosis is a crippling, painful health condition that affects an estimated 1 in 10 women. Many pre-teens, teens, and women may suffer in silence, going undiagnosed or misdiagnosed for up to 6 to 10 years before undergoing laparoscopic surgery to verify the presence of endometriosis (the ‘gold standard’ for diagnosing endometriosis). Endometriosis is caused by the growth of uterine-like tissue outside the uterus. When left untreated, endometriosis can injure the reproductive organs and non-reproductive organs and lead to infertility and organ injury.

Endometriosis symptoms typically include intense period pain, abdominal bloating (endo belly), chronic abdominal or pelvic pain, pain with intercourse, pain going the bathroom, and/or heavy menstrual periods. Some of these symptoms can start before a girl’s first period, and they typically escalate with time and may or may not correlate with disease severity.

There are many reasons for the long delay in diagnosing endometriosis. Many, especially younger women, suffer for so long because they do not always share their full set of symptoms with family members and healthcare providers. Family members, school nurses, and healthcare providers may not take their patients’ symptoms seriously, or they are not entirely aware of all of their patients’ symptoms. In some cases, girls’ and women’s pain complaints are not taken seriously; and there is no approved non-invasive test for endometriosis (currently, diagnosis requires laparoscopic surgery).

The lack of a non-invasive test for endometriosis – and lack of effective and tolerable therapies that reduce endometriosis progression - are among the most frustrating problems facing females suffering from endometriosis-like symptoms. In 2013, my colleague Dr. Peter K. Gregersen from the Feinstein Institutes for Medical Research at Northwell Health, and I founded the ROSE (Research OutSmarts Endometriosis) study to help find solutions. It began by asking women to share with us what we believe is the key to answering the major questions about this chronic and complex condition: menstrual blood, or menstrual effluent (ME).

Dr.Gregersen and I merged our complementary scientific expertise in genetics, population-based studies, cell biology, and immunology to develop a non-invasive diagnostic test for endometriosis and to better understand the development and progression of endometriosis.

For these past few years, ROSE study researchers have leveraged ME, a natural biological resource shed from the uterus each month, to tackle the problems faced by endometriosis patients. 

As our journey progressed, so has our understanding of the condition. First, we have developed easy methods for collecting menstrual effluent at home using either menstrual cups or external collection sponges that can then be shipped to the laboratory for analysis. At the lab, ROSE researchers have identified several differences in ME collected from women with endometriosis vs. healthy controls; these essential differences have been leveraged to develop a non-invasive diagnostic (Warren et al., 2018). The primary focus has been on studying endometrial stromal cells, special cells found in menstrual effluent that help repopulate the endometrium (i.e., the lining of the uterus) after menstruation each month; these stromal cells are also essential for fertility. Interestingly, each month some menstrual effluent is delivered to the abdominal cavity via the fallopian tubes. Most adolescents and women can ‘clear’ or remove these cells. However, these cells may wreak havoc in women who are susceptible to developing endometriosis lesions (containing endometrial stromal cells).  

In our most recent research published in Frontiers in Reproductive Health, we extended our earlier study with larger populations and have confirmed the earlier results supporting the use of ME for non-invasively diagnosing endometriosis (Nayyar et al., 2020). This study also included a group of women with endometriosis symptoms who had not yet been diagnosed by laparoscopy. Their test results look like the test results of women with endometriosis. This approach will allow later confirmation of the ROSE diagnostic results and is critically important for obtaining approval by the US Food and Drug Administration (FDA). Additional findings suggest that chronic uterine inflammation plays an important role in the development and progression of endometriosis in some women. More specifically, we showed that exposure of these well-studied endometrial stromal cells to inflammatory mediators causes dramatic pathogenic changes that promote increased cell migration, invasive and aggressive behavior, and further inflammation that likely contribute to endometriosis lesion development in the abdominal cavity.