Diagnosis, treatment, understanding... Endometriosis research is booming

Described since Antiquity, identified in the 19th century, named in 1927 by Dr. John Sampson, American gynecologist... Endometriosis is anything but a new disease, even if the suffering of patients has long been minimized. But over the past ten years, we have witnessed a paradigm shift and research is making great strides. Focus on four advances that could, soon, truly serve patients.

The worst enemy of women with endometriosis is diagnostic error. It is estimated to last seven years on average. A new test developed by French doctors, researchers and engineers could very soon change the situation. This involves searching, in a simple saliva sample, for some 109 microRNAs making it possible to identify endometriosis in 96.2% of cases, with 4.9% false positives. “We should receive the decision from the High Authority of Health regarding the reimbursement of this saliva test before the end of the year,” announces Professor Philippe Descamps, head of the obstetrics and gynecology department at Angers University Hospital, who participated in this research project. This innovation raised a lot of questions at its beginnings. The recent publication of very convincing interim results in the New England Journal of Medicine Evidence has dispelled doubts. “It is important to remember that this test is not intended to detect the disease in the general population but should help in the diagnosis of patients with symptoms suggestive of endometriosis, but in whom medical imaging does not show lesions,” underlines Professor Descamps. A negative test would save patients from laparoscopy, a minimally invasive surgical technique proposed today to confirm the diagnosis in these difficult situations.

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The drug arsenal is very limited against endometriosis. However, it could expand in the coming years. A clinical trial that began this fall in the United Kingdom will evaluate the effectiveness of dichloroacetate in treating endometriotic pain. Work carried out in mice and published in the Proceedings of the American Academy of Sciences (PNAS) showed that this molecule can reduce the concentration of lactate. This metabolite, usually produced by muscles, promotes the development and growth of lesions and is found in higher concentrations in the cells of the pelvic wall of women with endometriosis. A pilot trial carried out on around thirty women was published in 2021. Dichloroacetate is already used to treat rare metabolic disorders in children as well as certain cancers, which means that the safety tests have already been validated and that the drug could be quickly available if the current trial proves conclusive.

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The mechanisms at work in endometriosis remain largely unknown to date, which partly explains the lack of treatments specifically targeting the disease. The work of a Japanese team, published last June in the journal Science Translational Medicine, shed unexpected light on the possible origins of endometriosis. Analysis of samples of the endometrium, endometriosis lesions and healthy tissues revealed the presence of a bacteria, Fusobacterium, in more than half of the patients compared to 7% of volunteers without endometriosis. The bacteria injected into mice with endometriosis was also shown to worsen the lesions. Conversely, an antibiotic treatment combining metronidazole and chloramphenicol helped reduce the lesions. As promising as they are, these results remain experimental and other studies will need to be carried out to confirm the role of this bacteria and the effectiveness of antibiotic treatments in humans.

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Endometriosis is a multifactorial disease, with genetic causes in particular: it is not transmitted to offspring by a particular gene, but having an affected woman among your direct relatives (mother or sister) increases the risk of suffering sixfold. of this disease. To date, 9 large studies have been carried out to try to identify the areas of DNA (loci) involved. A meta-analysis, published in 2023 in the journal Nature Genetics, indicates that 42 loci are associated with endometriosis. Researchers have also studied the associations between genetic factors of endometriosis and those involved in other inflammatory pathologies and pain syndromes. They confirmed the link with asthma, and highlighted genetic correlations with eleven other diseases, including migraine and chronic back pain. This supports the hypothesis that the intense pain of endometriosis is caused by cross-activation of hormonal, immune and neuronal systems.