Study Reveals a New, Less Invasive Way to Diagnose Endometriosis

For anyone with endometriosis, two distinct aspects of the disease cause pain. First is the physical pain, which can be debilitating for some people. And second is how the medical community views the disease. Endometriosis has historically been overlooked as a "women's disease," although it also affects transgender and nonbinary people. There are also racial disparities in how the disease is treated by some doctors.

If being overlooked wasn't frustrating enough, endometriosis has been treated as taboo since it is a menstruation problem and insignificant since it isn't lethal. Everything from getting a diagnosis to treatment can be extremely difficult for patients. But researchers are challenging all of this with a new study that seeks to find a way to diagnose endometriosis without using invasive methods, and the science behind how is fascinating.

What is endometriosis?

Endometriosis is a chronic disease that affects 1 in 10 people who menstruate. It causes the lining of the uterus, called endometrium, to grow outside of the uterus and sometimes on other organs, including the fallopian tubes, ovaries, bowels, and pelvic lining. During menstruation, hormonal changes signal the endometrium to grow, thicken, and eventually break down the way it would inside the uterus. Since it cannot be expelled from the body through the menstruation process, tissue can become trapped and adhere or "glue" pelvic organs (fallopian tubes, ovaries, and bowels) together, leading to scarring, infertility, and even cancer.

To diagnose endometriosis, doctors must perform an invasive procedure called laparoscopic surgery; however, it is difficult to get approved. Barriers that prevent this diagnostic surgery include high cost and the unwillingness of doctors to perform it. This may be why a C-section is one of the ways that some people discover their endometriosis diagnosis.

Endometriosis is a tricky beast because it can be easily mistaken for other health conditions. This can be particularly problematic since a misdiagnosis not only slows the process toward getting a correct diagnosis but can force a person to continue to experience unnecessary pain and potentially develop cancer or infertility. Frustratingly, endometriosis is often mistaken for irritable bowel syndrome (IBS), pelvic inflammatory disease (PID), or even "bad periods."

Symptoms can appear in the preteen years, but they can take between eight to 12 years to diagnose. And not all patients with endometriosis will be treated the same way. Unfortunately, those who live with the physical pain of endometriosis are often ignored or dismissed by the medical establishment. What's worse is that racial bias is alive and well in the American medical establishment that sees Black people as experiencing pain differently—or not as severe—as white people, which adds another barrier to quality care.

What the Study Found

Scientists at the Feinstein Institutes for Medical Research launched a project called Research OutSmarts Endometriosis (ROSE) that found a way to use menstrual effluent as an indicator of endometriosis.

Menstrual effluent is shed from the endometrium during menstruation. When the material that sheds from the lining of the uterus breaks down, effluent is a part of that material that can be easily collected and analyzed. Researchers realized that the effluent may be the key to figuring out the endometriosis puzzle and what they found is astonishing.

It turns out that the effluent in a body that does not have endometriosis is distinctively different than effluent from a body with endometriosis.

"We really pioneered studying menstrual effluent in the setting of any condition. It was not well studied prior to us jumping in, and it was really only studied for regenerative medicine purposes because there are stem cells as the endometrium regrows every single month," Dr. Metz, a lead scientist at the Feinstein Institutes for Medical Research and co-director of Research OutSmarts Endometriosis (ROSE) told NBC News.

Over 1,800 menstruating people participated in the study. Subjects were asked to use a menstrual cup to collect a sample over the course of four to eight hours and then ship the sample to the team of researchers.

Researchers noted in their study that endometriosis presents significant challenges in part because of the lack of noninvasive testing, nonspecific nature of the symptoms, and "the tendency to normalize pain symptoms in these patients." But thankfully, their findings may accelerate positive change with regard to how endometriosis is viewed by the medical community.

The simple manner of collecting samples and the striking distinction between endometriosis positive and negative test results could mean that more people will be diagnosed faster. And that kind of speed and search for quality treatment might pierce the armor of stigma that surrounds this devastating disorder.

While the study is big news for people with endometriosis, it is still ongoing and those who believe they have endometriosis can still apply to participate. Once accepted, they will be asked health questions and then asked to collect a sample from the privacy of their own home.

The goals of the clinical research include closing the gap between first symptoms and diagnosis, finding an effective treatment for people diagnosed with this chronic inflammatory disorder, and learning more about uterine health.

If you or someone you know has symptoms of endometriosis, you can read more about the ongoing clinical research at Feinstein Institutes for Medical Research at Northwell Health.