Endometriosis can go undiagnosed for years as new tests offer promise

When Zoë Armstrong received an ultrasound report showing signs of endometriosis, she called her mother and cried. After years of pain and seeking help from doctors, the 31-year-old finally had an answer. Seeing the finding in writing made her feel she was not imagining what she had been experiencing, she said.

Her case is not unusual. The American College of Obstetricians & Gynecologists says people may wait a decade or more after symptoms begin before receiving an endometriosis diagnosis. The painful condition, in which tissue similar to the uterine lining grows elsewhere in the body, affects one in 10 women worldwide. New tests used in other countries are raising hopes of shortening that wait, although they are not currently available in the United States and some experts say they would be an aid rather than a complete solution.

Research suggests endometriosis is a chronic inflammatory disease. Its exact cause is unknown, though experts say genetics play a role. Symptoms vary with the extent of disease and the location of the tissue, which is usually found on organs including the bladder, bowel or ovaries but can, in rare cases, occur outside the pelvis. Bloating, fatigue and infertility are possible symptoms. Pain, often occurring during periods, intercourse or bowel movements, is the most common.

Dr. Drorit Or of Mount Sinai West in New York said the pain can be so debilitating that people cannot attend school or work and may be confined to bed for days. Armstrong first experienced stabbing pain on her left side at age 11, repeatedly visiting the school nurse. As an adult, she had severe pain, nausea, heavy periods, acne and rupturing ovarian cysts. Soon after marrying a few years ago, she described pain that felt like a tiny fencer inside her, stabbing her continuously for hours.

Armstrong was diagnosed at 29 by a doctor who also had endometriosis. An ultrasound identified an endometrioma, a fluid-filled cyst. She first cried with her mother after searching the term online, and cried again when a nurse gave her the diagnosis verbally and when surgery formally confirmed it.

Experts say delayed diagnoses can result because patients and doctors normalize menstrual pain. Symptoms can also overlap with those of other conditions, and not all health-care providers have expertise in endometriosis, said Dr. Megan Billow of the Cleveland Clinic. Or recommends keeping a diary of when pain occurs, where it is located and how intense it is, so patients can arrive prepared to ask whether endometriosis may be involved.

New diagnostic tests are available in some countries but have not been approved by the U.S. Food and Drug Administration. EndoSure is a roughly half-hour test that measures electrical signals in the gut through sensor pads placed on the abdomen; the physician receives the results afterward. Endotest examines a saliva sample for microRNAs that may indicate the condition and returns results in two to three weeks.

A U.K. institute that provides national health advice recently issued draft guidance recommending that the National Health Service use both tests for three years while gathering more evidence about their performance. The aim is to speed diagnosis in primary care. Dr. Mark Noar, founder of Maryland-based EndoSure, said the company is submitting an FDA application to have the test approved as an aid for doctors making a diagnosis.

French company Ziwig is taking final steps to offer Endotest to U.S. patients through another route that permits laboratory-developed tests to be offered through certain certified laboratories without FDA approval. Ziwig's Dr. Andrew Spiers said the test is a starting point: once a doctor knows endometriosis is present, imaging could follow if it has not already been done. He said it would not be the only tool in a patient's diagnostic pathway.

U.S. doctors agree that the tests would not replace other diagnostic tools and methods, though they may be helpful. They would not, however, resolve the continuing problem of treating menstrual pain as normal.

After diagnosis, women can work with their doctors on treatment plans. Options for endometriosis pain include pain relievers such as ibuprofen and a prescription medicine specifically for endometriosis; hormone therapies including birth-control pills, progestin therapy and medicines that temporarily stop periods; and surgery, including hysterectomy in some severe cases.

Armstrong underwent excision surgery to remove endometriosis lesions and scar tissue. She still sees about three doctors a week for pelvic-floor therapy and other issues. She also visits middle and high schools across New York City with the Endometriosis Foundation to educate students about what to watch for, both for endometriosis and for women's health conditions more broadly.

Or said young women should know that help and hope are available. With management of the disease, she said, patients do not have to live in pain and can have a very good life.