Endometriosis, its detection the focus of LI researchers

Researchers on Long Island are studying new ways to detect endometriosis, a painful and largely undiagnosed condition that affects about 1 in 10 young girls and women between the ages of 12 and 52.

And, for the first time, they are opening up their ongoing clinical study to include teens. 

Endometriosis occurs when tissue similar to the endometrial tissue that lines a woman’s uterus is found growing outside the uterus, on fallopian tubes, ovaries and other parts of the pelvic cavity. These lesions cause women to have extreme pain and other symptoms that can be debilitating. 

Too often these symptoms are misdiagnosed as stomach or gastrointestinal ailments, or dismissed as “women’s problems,” said Christine Metz, professor at the Institute at Molecular Medicine at the Feinstein Institutes for Medical Research in Manhasset and co-director of the Research OutSmarts Endometriosis (ROSE) study. 

“The delay in diagnosis is inexcusable,” Metz said. “Girls are told to take their Advil and go to bed and take a day off.” 

The only way to definitively diagnose endometriosis is through laparoscopic surgery, Metz said. The ROSE study is looking at a noninvasive way of detecting the condition through the contents of menstrual effluent. 

Menstrual effluent contains the endometrial tissue and blood that is shed from the uterus every month during a woman’s menstrual cycle. Participants in the study provide a sample by using a special collection sponge affixed to a sanitary pad or menstrual cup.

“The endometrial lining of the uterus, which is shed every month in women without endometriosis, is different in women with endometriosis,” Metz said. 

The study, which has enrolled about 1,900 women since 2014, includes participants with no signs of endometriosis, those who have been surgically diagnosed with it, and women who have symptoms that might be endometriosis. 

By using single-cell RNA sequencing, scientists are profiling cells in the effluent to determine those differences. At Feinstein — the research arm of New Hyde Park-based Northwell Health — a research team recently published a paper outlining their findings.

National experts said the ROSE study could lead to important health advancements for women suffering from endometriosis. 

“If we can find a marker that helps us diagnose endometriosis without surgery, then clinicians will have a better idea of when to use more specific imaging and diagnostic techniques, as well as when to use third-level medical treatment and when to consider surgery,” said Dr. Dan Martin, scientific and medical director of the Endometriosis Foundation of America. “It will help researchers do noninvasive research into the natural history and response to the treatment of endometriosis.”

Years suffering from symptoms

Christie Reuter, of West Islip, who participated in the study, has spent years suffering from the symptoms of endometriosis.

“I didn’t know what was going on with me at first,” said Reuter, 37, who works in child care. “I was in my 20s when I started getting pain in my pelvis. I kind of ignored it, and thought that I was just getting older and my cramps were getting worse. It’s just part of life. But then the pain became unbearable.” 

She went to her gynecologist, who said she might have endometriosis. Reuter underwent laparoscopic surgery, which confirmed she had endometriosis, but no procedure was performed to try to remove some of the lesions and tissue that were around her uterus, fallopian tubes and bowels. 

Instead, she was given injections of Lupron, a powerful drug that reduces production of estrogen in the hopes it would shrink the lesions. The side effects — including hot flashes and bone density loss — were overwhelming, she said. 

“I tripped doing yoga and broke my wrist and hip, so I was in a wheelchair and walker for a while,” Reuter said. “I had horrible hot flashes that were nonstop. It felt like from the core of my being, I was burning up.” 

She stopped taking the drug and found another doctor who was able to remove some of the endometriosis lesions and tissue, providing her with some relief.

Reuter said she is managing her pain under a doctor’s care, and hopes to raise awareness of endometriosis. 

Martin said there are some common misconceptions about endometriosis, such as that adolescents are too young to have it. He said it has been diagnosed in girls as young as 8. Another is that endometriosis goes away after menopause, when the production of estrogen in women drops. He said it can still show up years after menopause. And endometriosis does not always cause pain and infertility, he said, although some women with the condition can experience both. 

Metz said that while the ROSE study has focused on women 18 and older, they are now looking to add girls between the ages of 12 and 17. 

“As far as we know, no one has ever analyzed menstrual blood from a teen to know if it’s even different from an adult,” she said. 

Metz said she hopes the analysis of menstrual effluent will expand to include other women’s health issues. 

“There’s just a whole group of conditions that affect that uterus that aren’t well diagnosed,” she said. 

For more information and how to participate in the study, call 516-562-3636 or email rose@northwell.edu. 

By Lisa L. Colangelo

lisa.colangelo@newsday.com@lisalcolangelo

Lisa joined Newsday as a staff writer in 2019. She previously worked at amNewYork, the New York Daily News and the Asbury Park Press covering politics, government and general assignment.