Text: Andrée-Marie Dussault

Mystery of endometriosis and its intense pain

The disease affects at least one in ten women, can cause severe pain and even lead to infertility. Yet endometriosis is often detected too late. A saliva test could enable faster diagnosis.

One year after her first period, at the age of 12, Madeleine* started to have stomach pains during her period. “I would be writhing in pain and had cramps severe I couldn’t go to school,” she recalls, now age 23. Only once I was diagnosed with endometriosis did people in my life realise that I was not just over-reacting.” Not until recently did medical professionals become aware that painful periods can actually hide a pathology. “Women were long told that period pain was not serious. They were prescribed the pill, without any effort to detect the cause of the pain,” says Chahin Achtari, physician in chief at the CHUV’s Gynaecology Service. These days, endometriosis screening is more systematic.

The WHO estimates that endometriosis affects one in ten women of reproductive age. The disease is caused by the abnormal growth of the endometrium, the lining of the uterus, outside the uterine cavity. While the cause of the disease remains a mystery, the range of symptoms far exceeds currently available treatment solutions. “Symptoms vary depending on where endometrial cells are implanted,” Achtari says. “If they are present on the vaginal walls, it could mean pain during sexual intercourse. If endometrial cells are in the rectum, pain or even bleeding could be experienced when passing stools. These painful sensations are often cyclical and systematically aggravated in the days before and during a period.”

The hypothesis of retrograde menstruation

People with endometriosis do not fit a specific profile. “It is more prevalent in some families, but we don’t know yet whether that is due to genetic or epigenetic reasons or to external causes,” says Chahin Achtari. The exact causes remain a mystery for the medical profession. The most widely held hypothesis is that the cause is retrograde menstruation. This condition is when menstrual blood flows back into the abdominal cavity, carrying endometrial cells into the belly, instead of being discharged through the vagina. “The cells implant into the surface of the peritoneum, the membrane that lines the abdominal cavity, pelvis and viscera. Then, like seeds watered by the bath of hormones, they grow.” Not all experts are convinced by this hypothesis. “It doesn’t explain all types of endometriosis, such as thoracic forms or isolated retroperitoneal endometriomas,” argues Nicola Pluchino, formerly head of the Endometriosis Centre at Geneva University Hospitals (HUG) and now senior physician at Lausanne University Hospital (CHUV). Another major issue with endometriosis is its impact on fertility. The organisation EndoFrance estimates that 30% to 40% of people with endometriosis have infertility problems. Research is being conducted in this area, particularly in Geneva. “We have established a close working relationship with gynaecologists and doctors who deal with in vitro fertilisation,” Nicola Pluchino says.

Lack of treatment

Treatment varies depending on symptoms. “Non-surgical solutions focus on eliminating or at least reducing the pain, through hormone treatment, a contraceptive pill or a hormonal IUD,” the physician says, emphasising that these techniques do not cure the disease. Laparoscopy is a surgical procedure that uses an instrument and small video camera to examine the abdominal cavity and remove any pathological lesions. For Chloe*, a 27-year old university researcher, since they began at age 14, her periods have always come with significant pain. “My endometriosis had not yet been diagnosed. At the age of 15, I was prescribed a microdosed contraceptive pill. The pain considerably subsided but returned after a while.”

At the HUG’s Endometriosis Centre, Nicola Pluchino and her team bemoan the lack of treatment. “The pill and laparoscopy, currently the most common treatments for endometriosis, are not enough,” the gynaecologist says. The institution is considered a centre of excellence by the European Endometriosis League for its research. Nicola Pluchino laments the lack of funding to support endometriosis issues, despite immense needs. “This lack may be due to the fact that it is not a fatal disease. But endometriosis is associated with menstruation and infertility, issues often still considered taboo.”

Anticipating diagnosis

About 10 years ago, a diagnosis could take up to seven years. “During the first year of pain, I saw my mother’s gynaecologist,” Chloe* says. “She told me pain was normal. When I was still a teenager, I had to go to the emergency room, because the pain had caused so much tension that I couldn’t move my arms. These symptoms were attributed to an anxiety attack. When I was 20, I met a specialist who was sensitive to these issues and did all the gynaecological tests possible. Adenomyosis, a form of endometriosis inside the uterus, was detected.”

Dedicated tools, including ultrasound and magnetic resonance imaging (MRI), are now available to shorten diagnosis times. “Doctors are now confronted more with endometriosis both in their training and practice, so it is diagnosed more quickly,” adds Nicola Pluchino. Since the centre opened in late 2015, the number of patients has increased tenfold. “Every year we have 300 new cases. We currently do 2,000 consultations and perform 150 laparoscopies a year.”

However, when the disease is diagnosed this way, it is often too late. In addition, some forms of the disease cannot be detected using these technologies in the early stages. “A salivary, plasma or urine marker could totally change patient care for endometriosis.” The French startup Ziwig now offers just that: the Endotest, a salivary test to detect endometriosis. “Our priority is for all women around the world to have access to a rapid diagnosis in the best possible conditions,” says founder Yahya El Mir.
The technology is based on new sequencing techniques. “A device measures thousands of biomarkers simultaneously, which are analysed and processed using artificial intelligence to provide an accurate diagnosis.” Nicola Pluchino and her team are advocating a change in the medical culture around endometriosis. “We have developed an environment where listening is key, and we pay careful attention to each patient’s symptoms. We can now be flexible enough to adapt protocols to women’s specific needs.” For example, the team takes a transdisciplinary approach, working with the urology and the visceral and thoracic surgery services. /

* Names have been changed.

Taking action
Numerous initiatives are being carried out to better inform people about endometriosis.
A petition with almost 20,000 signatures, launched by the associations S-Endo and Endo-Help, to gain public recognition of problems associated with endometriosis, has been submitted to the houses of Switzerland’s Federal Assembly. Two motions also call for more research into endometriosis and a national campaign to raise awareness among the general population and medical workers.
EndoMarch is a worldwide walk for endometriosis that takes place on the last Saturday in March. The European Week for Endometriosis Prevention and Information also takes place in March.
The magazine Lyv is entirely dedicated to endometriosis, featuring surveys, articles, interviews and personal accounts on the subject.
Several accounts on social networks are dedicated to sharing information about endometriosis. For example, on Instagram go to @balance_ton_endo, @mon.endo and @endo.neline.



Chahin Achtari

Physician in chief with the CHUV’s Gynaecology Service.

Marilyn Monroe

Several hypotheses have been put forward to explain the exact cause of Marilyn Monroe’s death at age 36. Did she kill herself? Was she murdered? More rarely mentioned are her endometriosis and the treatment she was given to combat the pain that could explain her death.

One of her biographers, Anthony Summers, says that Marilyn suffered from menstrual pain from the time she was a teenager*. Later, in 1952, when she was officially operated on for appendicitis, the actress is said to have written a note on her stomach begging the surgeon not to remove her ovaries.

Biographers also report multiple miscarriages, meaning that she could never become a mother. One of the potential consequences of endometriosis is indeed infertility.

*Source : “Endometriosis: Marilyn Monroe’s hidden disease", Les Inrockuptibles, July 2017.