Positive progress for women with endometriosis 

Scientific breakthroughs in recent months offer hope to the one in ten women who suffer from endometriosis, a chronic gynaecological condition that can affect fertility, writes Helen O’Callaghan

Endometriosis occurs when endometrial-like tissue locates beyond the uterus, causing a cascade effect. The abnormal tissue secretes substances that irritate surrounding tissues, causing them to bleed

‘HOPE’, ‘Possibility’, ‘Excitement’ — increasingly this year, these positive words have been used in the same sentence as endometriosis, a common gynaecological condition affecting one in ten women.

In March, University of Oxford researchers collaborating with teams worldwide published the largest-ever study of the genetic basis of endometriosis.

Researchers believed comparing the DNA code in women with and without endometriosis could give clues to the biological processes that underlie onset and progression.

The investigation showed compelling evidence of a shared genetic basis for endometriosis and a range of other, seemingly unrelated chronic pain types, including migraine and back pain. 

The study also found ovarian endometriosis has a different genetic basis from other disease manifestations.

Researchers believed comparing the DNA code in women with and without endometriosis could give clues to the biological processes that underlie onset and progression.

Researchers say the findings open up possibilities of “designing new pain-focused non-hormonal treatments or repurposing existing pain treatments”. 

Professor Krina Zondervan, the paper’s senior author, said the study “has provided a wealth of new knowledge on the genetics underlying endometriosis, which will help in [coming] up with new treatments and possibly new ways of diagnosing the disease, benefiting millions worldwide”.

A grim disease, endometriosis occurs when endometrial-like tissue locates beyond the uterus, causing a cascade effect. The abnormal tissue secretes substances that irritate surrounding tissues, causing them to bleed. 

The woman’s immune system responds, releasing proteins that bring swelling and inflammation. The disease itself — and the body’s inflammatory response — can cause severe pain.

An estimated 47% of women with fertility issues have endometriosis. The condition can take years to diagnose and the only treatment is repeated surgeries and hormonal therapy, the side-effects of which can prevent a woman getting pregnant.

Recent breakthroughs offer hope to those suffering with endometriosis. 

Just weeks after the Oxford study was published came news from Australia of a major breakthrough in the future diagnosis and treatment of endometriosis. 

The South Eastern Sydney Local Health District reported that a team at Sydney’s Royal Hospital for Women had, “in a world first, successfully grown tissue from all known types of endometriosis in a laboratory, allowing researchers to observe cell changes and compare how different tissue responds to different treatments”.

The results, they said, would indicate how to effectively treat each variation of endometriosis.

The hospital’s professor of obstetrics and gynaecology Jason Abbott compared it to developments in breast cancer treatment. 

“Thirty years ago, we treated all breast cancers the same. We now know there are many different types of breast cancer and treat them accordingly. 

This is a similar breakthrough — it will allow more targeted and therefore more effective treatment, depending on the type of endometriosis a patient has.”

He added: “By knowing the type of endometriosis, we’ll be able to predict whether a patient’s likely to experience an aggressive, invasive form of the disease and offer treatment to preserve her fertility.”

With good news often coming in threes, it was just weeks later that Japanese researchers reported further promising findings.

In a study involving mice, a team from Nagoya University Graduate School of Medicine discovered that using an antibiotic to target fusobacterium reduced formation of endometriosis lesions. They said their findings suggested an alternative treatment for the disorder.

Study lead Professor Yutaka Kondo said: “Eradication of this bacterium by antibiotic treatment could be an approach to treat endometriosis for women who are positive for fusobacteria infection… such women could be easily identified by vaginal or uterus swab.”

Building blocks

Do these studies represent new shining hope — or simply ‘more to do’?

Geraldine Canny, scientific adviser to Endometriosis Association of Ireland, believes the studies hold hope for women with the condition. But she also believes a great deal of rigorous research remains to be done.

On the genetics study, she says: “Genetics only account for one aspect of disease development. They don’t tell us everything about how the disease manifests and about women’s suffering.

“Much more needs to be known about why the disease develops and how, in absence of a cure, lifestyle interventions may help those suffering from it.”

Endometriosis is a complex multi-faceted condition, she says.

“Interdisciplinary research is needed to develop an earlier, non-invasive diagnostic and to effectively treat this debilitating illness”.

Consultant gynaecologist and advanced laparoscopic surgeon Yousri Afifi sees the studies as significant steps in understanding how endometriosis develops.

Director of Birmingham Endometriosis Clinic, HE says identifying the genes linked to endometriosis, including subtypes and associated pain, will hopefully provide opportunities for both diagnostic and treatment options.

“[And identifying] the association between certain bacteria and a significant number of endometriosis patients may provide an opportunity of treatment as well by targeting such bacteria.”

Mr Yousri Afifi, director of Birmingham Endometriosis Clinic.

But he too added that further extensive research is required to “translate these findings into clinically-recognisable management options”.

They are exciting findings, he says, that “will be built on”.

In diagnosing endometriosis, Mr Afifi is already using novel approaches: a combination of EndoScanning — specialist scan to identify extent of endometriosis — and two new tests: saliva and EndoSure. 

“These allow us to identify endometriosis without inserting a camera as we’d have done before. They give a very accurate idea about the existence and extent of endometriosis and are sensitive and non-invasive”.

At his endometriosis clinic Mr Afifi sees up to five women monthly from Ireland who need surgery.

“They are most likely to be complex cases. They come because there’s no specialist service close to where they live, or there’s lack of a multi-disciplinary team,” he says, explaining that the clinic sees three groups of patients — those needing a multi-disciplinary team to remove complex endometriosis that has infiltrated organs, those requiring excision surgery to remove deep endometriosis, and women who have had surgery but it was insufficient to improve quality of life.

Promising hope

Dr Cliona Murphy, clinical director of the HSE’s National Women & Infants Health Programme (NWIHP) and consultant in obstetrics and gynaecology in the Coombe Women’s Hospital, welcomes the research findings of the last six months.

“Recognition of endometriosis as an inflammatory condition is an important step. Association with other pain conditions, and identification of the genes involved, should lead to further research and hopefully novel treatments.”

She is excited by the studies looking at non-hormonal treatments. 

“For many women, the standard treatments involve hormonal therapy — side-effects can be hard to tolerate and can conflict with fertility wishes. The Japanese study looking at a potential role for antibiotics, and the Australian one, show the potential for alternatives to current treatments may become a reality.”

Dr Cliona Murphy, clinical director of the HSE’s National Women & Infants Health Programme (NWIHP) and consultant in obstetrics and gynaecology in the Coombe Women’s Hospital, is excited by the studies looking at non-hormonal treatments.

What’s really important, she says, is the ongoing research into endometriosis, some of which will change our perception of the disease. 

“It’s likely that endometriosis is multifactorial, so we need to continue to investigate and learn.”

She points to events bringing focus on the disease, like the World Endometriosis Congress in Edinburgh, which in May hosted delegates from 53 countries, presenting nearly 600 original research papers.

Around the world, countries are developing national policies on endometriosis. Australia announced the development of a national action plan in 2017, and France has a new national strategy to combat the disease. 

Here, the National Endometriosis Framework, developed by the NWIHP, is close to publication. This sets out a defined clinical care pathway for women with endometriosis. 

Built around the principle of ‘right care, right place, right time’, it proposes women with symptoms of endometriosis be treated on the basis of presumed diagnosis.

This is hugely significant, says Dr Murphy. 

Women are still taking a long time to get to the point where endometriosis is considered. Evidence across Europe shows it can take up to 10 years to get a diagnosis. 

"Sometimes it was thought women were ‘too young’ for endometriosis — now we understand it can affect women all along the reproductive years and into menopause.”

Dr Murphy says this new perspective would see women presenting for example with painful, heavy periods meeting a healthcare professional who is already “thinking from the beginning” of endometriosis as the diagnosis. 

“With endometriosis as a possibility from the get-go, the doctor would start treating with inflammatory pain medication. And if this isn’t sufficient, the woman would be moved along the treatment pathway.”

While the framework sees most cases being managed successfully in primary care, it recognises some patients will need additional support — hence the setting up of five interdisciplinary teams in each of the maternity networks. 

Additionally, a small number of women with more complex cases will require expert treatment in two supra-regional endometriosis specialist centres, in Cork and Tallaght. These are currently in development.

For women diagnosed with significant endometriosis — where fertility is a priority — there will be provision for speedy referral to a fertility hub for assessment.

What the Framework promises is several strides ahead of what has existed here until now. 

“There wasn’t enough of a joined-up pathway for women with endometriosis. This is a chronic condition — post-surgery women can have pain and loss of fertility, that need acknowledging,” says Dr Murphy.

“Women with endometriosis have suffered a lot and have had to navigate a clunky enough system of care. We do think this [National Endometriosis Framework] is a significant improvement.”

A tough, complex disease that presents obstacles from diagnosis to treatment, it seems at last — with governments finally sitting up and taking action, and researchers finding answers – that there is new promise for endometriosis sufferers.

We decided we’d be a three-person family

Ilanna Darcy, who has endometriosis, was diagnosed with polycystic ovary syndrome (PCOS) when she was 16. Picture: Moya Nolan

As a teen, Ilanna Darcy had very irregular, heavy, painful periods that meant she often went home early from school. Prescribed painkillers didn’t help. 

“I didn’t like the way they made me feel,” says the now 44-year-old Dublin-based accountant.

Her GP did blood tests and at 16, Ilanna was diagnosed with polycystic ovary syndrome (PCOS). 

“I was put on the pill. It seemed to resolve many issues, eliminating the painful, irregular heavy periods.” 

But Ilanna continued to have bowel problems, ranging from constipation to diarrhoea. 

“I did colonic irrigation, acupuncture, colonoscopy — in my early 20s I was told I had IBS. For years I took things to alleviate it, like motilium husks — they helped but it never really resolved.”

She also had fatigue “that nothing would shake”, as well as depression in her late teens and early 20s and was prescribed anti-depressants.

In her mid-30s, by now married to Conor, she wanted children. “Ideally, I’d have liked two.” 

However, because of her PCOS, she consulted a doctor.

“I wasn’t old but I wasn’t exactly young so it was decided I should try the fertility drug Clomid.” 

Over the next four months, Ilanna discovered she had fibroids. When Clomid didn’t work, IVF was recommended. 

The months had ticked on. I really wanted a baby, so I was willing to give IVF a go.”

However, through laparoscopy, Ilanna found she had stage three endometriosis. 

“The [surgeon] removed as much as possible but he couldn’t remove all.”

Things finally made sense. “Endometriosis is why I had painful periods and IBS.” 

But she was worried. “I thought I had one obstacle — now I had three: PCOS, fibroids, and endometriosis.”

After a first round of IVF, Ilanna got pregnant only to miscarry. A second IVF treatment failed. 

“In my heart, I felt the embryos were doing their best to implant but couldn’t. I felt it had to do with the constant inflammation that was there, caused by endometriosis. I needed something to help IVF work.”

Ilanna Darcy with her daughter Adinah, 5. Picture: Moya Nolan

Off the pill for a number of months, Ilanna’s painful periods had returned. She began attending a fertility acupuncturist. 

“Within months, I had a regular, pain-free, clot-free cycle.”

The couple decided to undergo IVF again — the doctor told Ilanna to come in on day one of her next period. 

“That period never came,” she says.

Hardly able to believe she was expecting a baby, she continued with acupuncture through pregnancy. Her “little miracle child” was born when Ilanna was 39. But the wish for a second child was still there.

Unfortunately, a scan showed the fibroids had grown into her uterus wall and would need surgical removal. 

My AMH hormone level was also low. There were too many obstacles. We decided we’d be a three-person family.”

Ilanna feels very lucky — that for much of her life, the contraceptive pill kept her pain-free, but most of all she has her precious daughter.

As EAI vice-chair, she wants to raise awareness of endometriosis. 

“We need to drive more change,” she says, adding that research is key.

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