A new endometriosis diagnosis promises advances in care

Is this a defining step in understanding endometriosis? The discovery of a saliva diagnostic test for the disease in 2022 could be the start of a long-awaited breakthrough for patients, according to several medical experts. The results were released on June 9 New England Journal of Medicine to confirm the validity of the tool, tested since November 2021 with 200 symptomatic women followed in five hospital departments and specialized centers in France. The research continues with the inclusion of additional 800 women.

“This interim report already shows that the test correctly identifies 96percentage of endometriosis cases less than 5% false negativeshows P^r: Horace Romain, a surgeon at Ifem Endo in Bordeaux who participated in the clinical trial. That’s a great resultwhich I admit I wouldn’t have bet on a few years ago! For reasons still unknown, this pathology really has facesvery different for different women.»

For ease of use, the saliva test was developed by academic research teams with the French startup Ziwig. Using artificial intelligence, scientists identified 109 messenger microRNAs, the combined presence of which is associated with endometriosis. According to P^r: Horace Roman, Thus, it becomes possible to make a diagnosis without resorting to exploratory laparoscopy (an operation under general anesthesia that allows the camera to visualize the interior of the abdominal cavity, editor’s note).”

Endometriosis, which is very common in the population, is associated with the presence of endometrial cells outside the uterus. These hormone-sensitive invaders bleed and “inflame” with the rhythm of menstrual cycles and cannot be evacuated like the lining of the uterus. “In some women who have a genetic, immune, or environmental predisposition, the lesions build up, causing nodules and inflammation that worsen over time. “, says P^r: Cherif Akladios, head of the department of gynecology and obstetrics at Hautepierre Hospital in Strasbourg (also involved in the study).

“A huge field of research”

The phenomenon in about 10% of women of reproductive age (i.e. 1.5 to 2.5 million women in France) causes cyclical symptoms at the onset of the disease, namely pain during menstruation and intercourse, digestive or urinary. They are more or less severe depending on the patient and may or may not develop into a serious form. But the level of pain is not related to the severity of the disease. “This is what makes endometriosis difficult to diagnoselet’s say D^r: Emily Faller, gynecologist-obstetrician in Strasbourg. Some patients describe very disturbing symptoms, but MRI does not detect lesions that may be too superficial. When in doubt, they get hormone treatment that blocks periods, but that doesn’t always relieve them. A saliva test can help answer these questions.» Diagnosis, which today is mostly based on clinical examination, occurs seven to twelve years after the first complaint.

Paid up to €1,000 in countries where it is already sold, the test does not, however, give any indication of the location and type of lesions. Beyond the expected benefits in the field of diagnostics, P^r: Roman, in Bordeaux, sees this new tool as a starting point for understanding the mechanisms of endometriosis. “By expanding these techniques, we will be able to answer other important questions about the diseaseassures the researcher. We will then be able to assess, according to each woman’s genetic profile, her risk of recurrence after surgery, the likelihood of progressing to a serious form of endometriosis, or her risk of infertility. »

This also opens up perspectives in terms of care. By highlighting the proteins involved in the development of endometriosis for each patient, the test can help identify the genetic profile of the pathology and respond to it in a targeted manner. “Breast cancer treatment has been revolutionized by this approach– recalls Sheriff Akladios. A huge field of research has started with this test. »