Lost in the system: women with endometriosis face long diagnostic delays

It takes an average of 7 years to diagnose endometriosis, despite it causing debilitating symptoms and affecting between 5% and 10% of all reproductive-age women¹, and 30–40% of infertile women².

So why does it take so long for these women to get the diagnosis they need?

MedWire reporter Sarah Guy spoke to endometriosis experts Lone Hummelshoj, Stephen Kennedy, and Philip Kaloo, to identify what causes the diagnostic delay, and to ask their opinions on what could be done to speed up the process.

“At the end of the day, the specialist gynecologists know what they’re doing, we just need  the clinicians to get the women there,” says Lone Hummelshoj, Chief Executive of the World Endometriosis Foundation (WERF) in London, UK.

Lone Hummelshoj is the Chief Executive of the World Endometriosis Research Foundation, and a co-author of the Global Study of Women’s Health.

Stephen Kennedy is head of the Nuffield Department of Obstetrics and Gynecology and a Clinical Reader in Obstetrics and Gynecology at the University of Oxford, as well as a founding board member of the World Endometriosis Research Foundation.

Philip Kaloo is a Consultant Gynecologist and specialist in the investigation and treatment of endometriosis at Cheltenham Nuffield Hospital, the Gloucester Winfield Hospital, and Cirencester hospital.

In June, the results of the Global Study of Women’s Health (GSWH)¹ – presented at this year’s European Society of Human Reproduction and Embryology conference in Rome – confirmed the existence of an average 7-year delay in the diagnosis of endometriosis.

The questionnaire-based global study, funded by WERF, involved 1418 premenopausal women who underwent an investigative laparoscopy for symptoms suggestive of endometriosis, which can include heavy bleeding and chronic pelvic pain during menstruation, ovulation, intercourse, bowel movements, and urination.

The average age at symptom onset among participants with endometriosis was 26 years, yet the average age at diagnosis was 33 years.

Symptoms: fatigue, bloating, nausea, heavy bleeding and pain at menstruation, infertility, and pain during ovulation, intercourse, bowel movements, and urination.

Initial obstacles

One of the initial concerns is that women may be hindering the diagnostic process by delaying visiting their physician when they first notice symptoms. Hummelshoj, a co-author of the study, believes women are reluctant to make a fuss, and do not want to seem weak in the face of symptoms experienced by all women to some degree.

“Without sounding feministic, women tend to be troopers and get on with it,” says Hummelshoj. “They say: ‘If you seem to be dealing with your period then I’m not going to complain about mine.’”

Her worry is echoed by fellow WERF member and head of the Nuffield Department of Obstetrics and Gynecology at the University of Oxford, Stephen Kennedy, who believes that getting women to visit their physicians in the first instance can be difficult.

“They may be reticent to go, and not open up once they are there,” he says. He suggests that women can be embarrassed about the nature of their symptoms, fearing that they will not be taken seriously by their physician.

Philip Kaloo, consultant gynecologist and specialist in the investigation and treatment of endometriosis at Cheltenham Nuffield Hospital, the Gloucester Winfield Hospital, and Cirencester hospital, also shares Kennedy’s concerns.

“It’s a problem especially if patients have friends who also have painful periods. They will often see it as normal, when it’s obviously not,” he says.

Once women have been seen by a physician, however, a lack of awareness of endometriosis among primary healthcare givers can cause further delay in starting an appropriate investigative and/or treatment plan.

The problem with pelvic pain

The chronic pelvic pain that may first drive women to visit their physician is a symptom of many gynecologic as well as gastroenterological conditions, and diagnosis is often a lengthy process of elimination, ending in laparoscopy – the only definitive way to accurately identify endometrial lesions.

“The list of difficulties at presentation can be similar to irritable bowel syndrome (IBS) and other gynecological and non-gynecological problems,” says Kaloo. He adds that the reason potential gynecological causes tend to be ignored early on “is not a lack of sympathy, but a lack of awareness/understanding”.

Causes: Cells that behave similarly to those found in the endometrial lining of the uterus exist in the pelvic cavity, pelvic organs, and in the bladder, bowel, and sometimes in the lungs, and in accordance with the menstrual cycle, will thicken, shed, and bleed – with no means of escaping the body.

One of the consequences of this lack of awareness is that women are frequently referred to the wrong kind of specialist, or not referred at all, with some primary care physicians taking the view: “What are they going to do in secondary care that I haven’t done now?” says Kaloo.

Kennedy has witnessed this first hand: “We’ve learned that the overwhelming majority of women are referred to other clinicians before they get to a gynecologist – the commonest being a gastroenterologist – and/or they’re being treated with a variety of drugs that aren’t relevant, drugs for chlamydia, drugs for IBS, because again, in fairness, the pain can be very similar in these conditions.”

Little is known about the etiology of endometriosis, or how to treat it most effectively. What is known is that cells that behave identically to those found in the endometrial lining of the uterus are also found in the pelvic cavity, pelvic organs, and in the bladder, bowel, and sometimes in the lungs. In accordance with a woman’s natural menstrual cycle, these cells will thicken, shed, and bleed, with no means of release from the body.

Kennedy believes that the ultimate goal is to create an algorithm, or diagnostic check-list, that differentiates symptoms of endometriosis from those of other conditions, to make it easier for physicians in primary care to make appropriate referrals. He hopes that the GSWH, and the two other studies currently being undertaken by WERF (the Women’s Health Symptoms Study and EndoCost), will encourage clinicians to consider the possibility of endometriosis “a little faster than they do now.”

“With any luck, what we will do is pick out from this long list of symptoms that women get asked about, which are the most important in terms of predicting whether she has endometriosis or not. We may fail, but no-one has quite approached the problem in this way before.”

Hummelshoj strongly agrees with this approach: “We need the clinicians to understand that when a woman turns up with period pain, pain on defecation, pain on urination, pain with sex, answer yes to two of these and a bell should go off, ‘I wonder if this might be endometriosis?’

“And the minute you think endometriosis, send her to somebody who specializes in the disease, because that’s where she’s going to get the best treatment plan.”

Drugs or surgery?

Medical treatment can be an acceptable way to manage women with endometriosis, with suppression of ovarian function for at least 6 months forming the basis of treatment, and then future options including the combined oral contraceptive pill, medroxyprogesterone acetate, and gonadotrophin-releasing hormone agonists.

Hummelshoj endorses this drugs-based approach – if it enables women to cope with their day-to-day symptoms.

However, despite statistics showing that medical treatment reduces symptoms in up to 80–90% of patients, none of the current options reduces the recurrence of symptoms once treatment has stopped. ² Furthermore, these treatments necessitate other considerations, including whether a woman plans on having a family. 

Thus, surgery in the form of laparoscopy to remove pelvic lesions becomes a more attractive option, but it depends greatly on the severity of the disease, the location, the extent of symptoms, and indeed the woman’s general health as to whether it is an appropriate option. Furthermore, the surgery is notoriously complex, and if done incompletely, can mean repeat procedures. Hummelshoj herself has had five operations.

“I’m a huge advocate for specialist surgeons, and I think that we need the surgery recognized as a specialty, just like cancer surgery, because when I speak with surgeons, they say it’s even more complicated than cancer surgery,” she says.

Kaloo believes that the surgery would not even be contemplated by most gynecologists because of its complexity and labor intensity.

Raising awareness

Hummelshoj believes that education should play an important role in the future of endometriosis care, and would like to see programs in schools where, alongside sexual health education, young women – and indeed men – are taught about menstrual health, and what it might mean if a period “hurts more than it should.”

“Without sounding feministic, women tend to be troopers and get on with it, they say, ‘if you seem to be dealing with your period then I’m not going to complain about mine’.”

And she hopes that studies like the GSWH, the Women’s Health Symptoms Study, and EndoCost will give more of a focus to endometriosis among primary care physicians and the healthcare sector as a whole, to enable quicker recognition and speedier treatment.

Kennedy feels the same: “With any luck, what we will do is pick out from this long list of symptoms that women get asked about, which are the most important in terms of predicting whether she has endometriosis or not.

“We may fail, but no-one has quite approached the problem in this way before.”

In setting up WERF in 2006, Hummelshoj and colleagues sought to create an endometriosis research “pool” to add weight to what was already known by sufferers, their families, friends, and most clinicians, but has largely been overlooked by policy makers, healthcare resource allocation institutions, and governments. That is, “to demonstrate the tremendous impact that endometriosis has on women during the prime years of their lives,” she says.

“We raised funds for these studies because we felt that we needed a foundation in place in terms of why endometriosis is important,” Hummelshoj explains.

Indeed, of the GSWH in particular, she says: “We knew what the results were going to be, but we’ve never been able to prove it. This is now our evidence.”

Hummelshoj concludes that from WERF’s point of view, awareness of the condition and getting women diagnosed is only the first step of the journey, because endometriosis cannot be treated well and there is currently no cure.

Thus, she hopes to take the findings from the all the WERF studies as evidence to governments, departments of health, and global healthcare systems, to prompt investment in better endometriosis treatments.

“At the end of the day, we need to give these women their lives back, whilst working at preventing this disease in the next generation.”