Diagnosis of endometriosis: a major challenge in the fight against a widespread disease
Endometriosis is a complex gynecological disease that is not well known to the general public and yet affects 1 in 10 women of childbearing age, representing 190 million women worldwide. 2 million women are newly diagnosed each year. These figures are in fact underestimated due to the difficulty of diagnosing endometriosis, the confusion of symptoms with the pain that can occur during the menstrual cycle, and also the lack of knowledge of the disease by certain health professionals. The National Assembly in France recently recognized endometriosis as a long-term condition, allowing women to be better covered for the costs involved.
What is endometriosis?
This disease is linked to the presence of endometrium, the mucous membrane lining the body of the uterus (which thickens and thins during the menstrual cycle), which has migrated outside the uterus to other organs such as the ovaries, the rectum, the bladder, the vagina and, in rare cases, the brain or the lungs. These endometriotic lesions are influenced by hormonal changes but are not eliminated during the menstrual cycle, leading to an inflammatory reaction, which causes severe pain.
What are the symptoms?
The predominant symptom of endometriosis is pelvic pain, especially during menstruation (dysmenorrhea). This is because endometriotic lesions are sensitive to female hormones and can therefore proliferate and/or bleed during the menstrual cycle. Pain can also occur during sexual intercourse (dyspareunia), urination (dysuria) or defecation (dyschezia). Like pain, infertility is also considered as a symptom of endometriosis.
However, the disease can also be completely asymptomatic and discovered during the desire to have children.
Types of endometriosis and their severity
Three types of endometriosis have been described:
- Superficial peritoneal, characterized by the presence of endometrial implants on the surface of the peritoneum*;
- Ovarian, defined by the presence of a cyst on the ovary;
- Deep pelvic (or sub peritoneal) corresponding to the presence of lesions infiltrating more than 5mm below the surface of the peritoneum.
Several classifications exist to characterize endometriosis: that of the American Fertility Society is the most widely used (ASRM score) and is based on surgical data to classify endometriosis into four stages from minimal to severe. The Endometriosis Fertility Index uses, in addition to surgical data, the patient’s history to assess the likelihood of spontaneous pregnancy after surgery.
Diagnosis of endometriosis and treatment
The time taken to diagnose endometriosis is on average 7 years from the onset of symptoms to diagnosis by a doctor. This long period of diagnostic wandering is explained in part by long delays in consulting experts, but also by a lack of knowledge of the disease on the part of certain health professionals, leading to inconclusive examinations.
The diagnosis of endometriosis generally begins with an examination by general practitioners, gynecologists or midwives, assessing the pain and the impact on the patient’s quality of life, followed by a gynecological examination of the posterior vaginal cul-de-sac.
These two examinations guide the diagnosis towards an ultrasound or MRI scan, the aim of which is to assess the degree of endometriosis and to organize appropriate treatment. The doctor may then prescribe a hormonal treatment to prevent the onset of menstruation, such as oestroprogestins (contraceptive pill) or levonorgestrel intrauterine systems (IUD), which will stop the pain and allow the woman to live normally.
If this is not enough, an artificial menopause can be induced by injection of gonadotropin-releasing hormone (GnRH) agonists acting on the pituitary gland to suppress ovulation. In the event of localizing signs of deep endometriosis, pelvic and/or abdominal-pelvic MRI or endovaginally ultrasound is carried out, enabling the size of the lesions and their location to be described before proceeding with excision surgery.
In the case of digestive and urinary tract problems, more detailed examinations may be carried out.
Endometriosis, synonymous with infertility?
30-40% of women with endometriosis face the problem of infertility. The link between endometriosis and infertility is not scientifically explained, however the endometrial masses can create a mechanical barrier and induce an unfavorable environment for fertilization, thus impacting on all stages of reproduction (disturbed folliculogenesis, non-emission of oocytes, adverse effects on spermatozoa, implantation problems). However, it has recently been shown that endometriosis patients have abnormal hormonal and gene expression profiles, potentially making the uterus unfavorable for the reception of an embryo.
Infertility is not synonymous with sterility, and pregnancy remains entirely possible: depending on the degree of endometriosis, ovarian stimulation with or without intrauterine insemination, or in vitro fertilization (IVF) can be implemented. Surgery to remove the lesions is not necessarily recommended to improve the chances of pregnancy; however, it is performed in cases of deep endometriosis or in the event of IVF failure.
Endometriosis: a heavy impact on women’s quality of life
Endometriosis has many negative impacts on the quality of life of patients. It can be disabling, preventing patients from working properly: many patients report reduced intellectual ability, reduced physical capacity and repeated absenteeism. In addition to the symptoms of the disease, psychological disorders and side effects of treatment can also occur.
Endometriosis was recently recognized as a long-term condition by the French National Assembly, allowing 100% coverage of health costs by the health insurance system. This recognition would notably allow for the exemption from advance payment of health costs, the reduction of the waiting period in the event of sick leave and the reorganization of the patient’s working hours, greatly improving her quality of life.
Time to diagnosis of endometriosis: a major challenge in the fight against the disease
The major challenges today are to improve the quality of life of patients and their care and, in particular, to considerably reduce the length of the diagnosis of endometriosis.
Digital platforms, such as Easyendo or EndoZiwig, can help with the first steps of the diagnosis and direct the patient to experts in the disease.
Numerous early detection tests for the diagnosis of endometriosis based on blood tests or endometrial biopsies are also being developed; these look for biomarkers of the disease, such as the quantification of microRNA (Dotlab) or the expression of cell cycle genes (HOX genes; MetriDx).
Endometriosis is a very common disease whose diagnosis is difficult and time-consuming, as dysmenorrhea (main symptoms) is often overlooked. Facilitating the diagnosis of endometriosis for a better management of patients is one of the major challenges to improve the health and quality of life of affected women. Alcimed is ready to support the actors and the solutions oriented towards this unmet medical need, do not hesitate to contact us!
* The peritoneum is the membrane that covers the abdominal cavity and the viscera it contains.
About the authors,
Manon, Consultant and Christelle, Project Manager in Alcimed’s Life Sciences team in France
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