Pelvic pain during sexual intercourse, heavy periods… endometriosis affects between 1.5 and 2.5 million French women of childbearing age, or one in 10 women. This disease is characterized by the presence of endometrial tissue outside the uterine cavity, but its diagnosis is often very late: you have to wait 7 to 10 years on average. A diagnostic wandering which could soon disappear thanks to an astonishing technique.
A diagnosis using a menstrual blood test
Researchers from Hospital Universitario Insular de Gran Canaria and Hospital Clínic Barcelona believe that menstrual blood-derived stem cells (MenSCs) are the cells responsible for the formation of menstrual lesions.endometriosis. But culturing these cells (i.e. taking them from a patient to grow them in the laboratory) modifies their composition… so they tested direct isolation without culture, which preserves their molecular integrity and thus offers a deeper and more direct view of the behavior of theendometriosis.
In recent work, they applied “DNA methylation profiling” using menstrual blood samples (taken from 42 participants, including 19 with endometriosis). Result: Thanks to this technique – already widely used to diagnose cancer – the researchers managed to obtain an accuracy rate of 81% and were able to clearly distinguish participants with endometriosis from those who did not.
The DNA methylation profiling technique
DNA methylation profiling involves looking at small chemical “markers” on genes that influence their activity. Various methylation patterns are associated with aging, development and diseases like cancer or in this case, endometriosis. To test the effectiveness of methylation profiling on newly isolated cells in predicting endometriosis, scientists used and evaluated several machine learning algorithms to differentiate pathological samples from control samples. Their model succeeded in clearly distinguishing pathological cases from controls, correctly identifying the majority of affected patients (with a sensitivity of 79%) and those not affected (with a specificity of 83%).
This technique would therefore allow scientists to use menstrual blood samples to accurately diagnose and categorize endometriosis,”a process that is much less invasive for patients than the current reference method (laparoscopy, a procedure that allows the pelvic cavity to be examined)“, they admit.
“Our approach shows that DNA methylation profiling is a reliable and non-invasive method for diagnosingendometriosis. Our results also support the use of menstrual blood as a stable diagnostic sample” underlines Dr. María Teresa Pérez Zaballos, co-founder and CEO of endogene.bio.
An indication of the progression of the disease for each woman
Another advantage of this process: it would also allow us to learn more about the disease. The methylation profiles discovered not only predicted the disease, they also showed how it progressed in various patients. This ability to create personalized profiles provides crucial information about how the disease develops and why it impacts patients differently, allowing tailor-made treatments to be designed. As stated by Dr. Francisco Carmona, head of the unit ofendometriosis and uterine transplantation from Hospital Clínic Barcelona and co-author of the study: “This study marks a major advance in our mission to understand the biology ofendometriosis. Its implications are considerable: the methods tested could make it possible to develop non-invasive patient stratification and diagnosis tools, better treatments, and personalized care pathways, thus transforming the patient experience and our clinical approach.”.
Thanks to this new approach, scientists hope to detect endometriosis much earlier – in just a few weeks compared to several years today – while offering personalized treatments to patients.
The researchers will now validate this approach on a larger cohort of patients with the aim of developing a non-invasive diagnostic test. But this innovation has already attracted the attention of the pharmaceutical sector: endogene.bio has established a research collaboration with Exeltis, a major player in the development of innovative treatments for women’s health.
Who should you turn to if you suspect endometriosis?
But while waiting for this test to be put on the market, who should we turn to in the event of suggestive symptoms? Dr. Canis, obstetrician-gynecologist, advises consulting a specialist in gynecology or gynecology-obstetrics.
“The first symptom of endometriosis is pain. If the woman complains of dysmenorrhea (pain which precedes, accompanies or follows the periods), the doctor must not neglect her.specifies the gynecologist.
The doctor will then examine the patient for suggestive signs.
“To be able to make the diagnosis of endometriosis, several steps are necessary: gynecological and pelvic examination, ultrasound (pelvic or endovaginal) and MRI. It is the combination of these first-line techniques which makes it possible to reach the diagnosis”, specifies the Health Insurance website.
Sometimes, it happens that these observations are completely satisfactory, that the pelvic examination is normal, without the diagnosis being ruled out. When the lesions are superficial or minimal, the endovaginal ultrasound may also be inconclusive or negative.
MRI therefore plays a crucial role here: it defines the number and location of endometriosis lesions.
Recently the subject of criticism, the Endotest saliva test is no longer indicated for early detection, it is now only considered after unsuccessful clinical and imaging examinations, to avoid surgery.