Despite a ministerial apology, and subsequent National Action Plan, women with endometriosis continue to experience delayed diagnosis, ongoing pain and indifference
Endometriosis is a debilitating, chronic condition that affects 200 million women worldwide making it as common as diabetes. Despite this, women with the disease experience pain, infertility, decreased quality of life—and interference with daily life, relationships and livelihood.
Evidence also suggests that women with endometriosis are at higher risk of infertility, ovarian and breast cancer, melanoma and asthma—as well as some autoimmune, cardiovascular and atopic disease.
In Australia, a national study of 13,508 women, found one in nine women were diagnosed with endometriosis by age 44. People with endometriosis report a significant negative impact across many areas of their life costing an average of $30,000 a year due to lost work/productivity and direct healthcare costs.
A study commissioned by support group EndoActive found the cost to the economy was more than $7bn in 2018, due to lost productivity. However, the AIHW said these figures may be even higher given difficulties in diagnosis.
The cause of the disease is unknown but it is believed a genetic component may be involved in some women.
Endometriosis is characterised by the presence of tissue similar to the womb lining occurring outside the uterus—known as lesions. Three subtypes have been identified: superficial peritoneal (SPE), ovarian and deep. The main or cardinal symptom of disease is pain, but the underlying biological mechanisms involved in this pain is unknown.
Likewise, the progression of the disease is unknown—and there is also a poor correlation between pain severity and the amount, location and subtype of lesions.
Need for surgical intervention
Due to the varied symptoms, endometriosis is under diagnosed. Indeed, it is estimated that a third of women6 only discover they have it because they have not been able to become pregnant, or it was found during an operation for another reason.
As yet, there are no accurate non-invasive biomarkers of endometriosis (for more on this see breakout: ‘Former pharmacy grad leads search for endometriosis urinary biomarker’). Diagnosis is generally via laparoscopy regarded as the ‘gold standard’.
This need for surgery means that many women have to wait lengthy periods for formal diagnosis, treatment and care. Some researchers believe there is some limited evidence suggesting that the failure of diagnosis and inadequate management may “foster disease progression”, “may compromise fertility and increase the risk of central sensitisation and chronic pelvic pain”.
Indeed an emerging group of gynaecologists have suggested clinicians are overly focused on treating lesions rather than managing the associated pain, while another 2019 paper considered whether the surgical removal of the most common types of endometriosis “needed a rethink”.
“…future research could demonstrate that surgery for [endometriosis] in isolation is not only ineffective but aggravates the symptoms of pain, or even causes harm. There is increasing awareness of the problem of chronic postsurgical pain (CPSP), which occurs in ~20% of patients at 3–6 months… The factors identified as most predictive of CPSP are all prevalent in women with endometriosis.”
Further to this, the heterogeneous nature of the endometriosis has, in part, led another group of experts to call for it to be reclassified as a syndrome as this would refocus treatment away from surgical eradication of lesions towards multidisciplinary care for complex symptoms such as chronic pain:
“Recognising that symptoms are not confined to pelvic pain or infertility may increase awareness and lead to quicker investigation and diagnosis. However, we recognise that the lack of surgical services to identify endometriosis lesions may continue to cause delays in diagnosis.”
Australian women living with endometriosis still have to wait more than six years for diagnosis. And even after medical and surgical intervention—a very recent Australian survey found that almost three quarters of women still suffered from period pain, almost two thirds reported difficult or painful sex, and almost 83% experienced chronic pelvic pain in the three months prior.
“Many women with endometriosis experienced substantial delay in diagnosis and continue to experience ongoing symptoms, despite active management strategies being employed,” the researchers concluded.
In addition, the women said that they had consulted an average of three different health practitioner specialties in the previous 12 months for their endometriosis. The authors suggested a chronic disease management plan (CDMP) may be a useful mechanism to coordinate multidisciplinary care.
In the dark about menstrual pain
Certainly, more is needed to improve education around pain and menstrual health. A recent Australian survey of more than 4200 females found the majority of young women do not seek medical advice for their menstrual symptoms, but used information from the internet (50%) and engaged in self-management.
This was done most commonly with over-the-counter medications such as paracetamol (51%) or ibuprofen (52%). Oral contraceptive use was relatively common (35%), mostly for reduction of menstrual pain (58%).
Despite having significant dysmenorrhea, approximately one-half of the participants (51%) thought that their period was normal. Women with higher pain scores were more likely to rate their period as “abnormal” but not more likely to consult a doctor. Only 53% of those at school had heard of endometriosis.
National Action Plan
The government’s National Action Plan for Endometriosis was meant to address the “historic failures in the awareness, diagnosis and treatment” of endometriosis through increased awareness of the condition, improvements in clinical management and care—and research.
However, it was only in November 2020 that the first draft guidelines for the clinical diagnosis and management of the endometriosis were released for feedback.
Consumer and patient groups have said these developments are “big picture stuff” whereas they say women and girls need help now.
According to co-founder of Endometriosis Australia, Donna Ciccia, this means more is needed for research.
“There have been some great areas of progress with the development of the National Action Plan, and reductions in delays in diagnosis. But to get real change for women with endometriosis a significant investment in research is needed,” she told the AJP.
As a fellow ‘endo-warrior’, Ciccia was finally diagnosed at aged 31 despite having symptoms from age 16. She now lives with a severe form of the disease.
“As time to diagnosis today is still 6.5 years, it is inevitable there will still be a large demand for diagnosis and treatment for some time to come,” she said.
Ciccia believes pharmacists have an important role in supporting and educating patients about the safe use of medications for pain relief and endometriosis symptoms. But importantly, they need to demonstrate understanding and empathy to patients.
She said it is not uncommon for those who suffer with endometriosis to feel demonised by society as junkies or drug seekers—instead of being helped. It is also important to remember everyone’s experience can be different—and women’s treatment needs change too.
“Patients often approach pharmacists to help them manage random flares of endometriosis but many treatment solutions are not available over the counter. A pharmacist’s relationship of trust and professional expertise is vital to helping ‘endo-warriors’ manage their disease long-term—educating them on their medications is really empowering,” she said.
For her part, she is driven by a “deep-set desire to not see another person go through being labelled a hypochondriac or being told it is all in their head, that it is all just period pain or they need to toughen up!”
“This is a serious quality of life disease that affects so many aspects of your physical and mental health, personal relationships and has a tremendously high financial burden.”
For this reason, she would like to see multidisciplinary approaches to care available. They might be better suited to identify gaps in management too, she said.
“There have been some private Australian clinics already delivering multidisciplinary approach which has been of benefit to patients. We would like to see this approach rolled out in the public system as a centre for excellence in endometriosis.”
This type of care could look at lifestyle measures to help with symptom management.
“Nutritional modification can be a helpful tool in managing endometriosis symptoms and we have some research for acupuncture and low FODMAPS with more underway. A pharmacist referral system to a qualified nutritional, naturopathic or dietic practitioners in the area would be of benefit to patients and another tool in their toolkit to help their patients manage endometriosis.”
She added multidisciplinary approach might also help those patients with the disease hoping to conceive.
“Managing the symptoms is an extremely difficult thing when trying to conceive—this represents a really gap in the management of endometriosis. Allied and complementary therapies can play a role in helping to manage the symptoms and help on the fertility journey,” she said.
Largest study ever
Improving the fertility of endometriosis patients is just one of nine research projects to receive government funding for last year in the largest ever endometriosis study conducted in Australia.
The Royal Women’s Hospital will lead a major research program in a collaboration with the Mercy Hospital for Women and the University of Melbourne. The other areas of research will focus on:
screening for presence versus absence of endometriosis;
- predicting recurrence of endometriosis;
- the role of epithelial somatic mutations in endometriosis recurrence;
- identifying endometriosis biomarkers associated with the presence of disease and symptoms;
- treatment for endometriosis-related pain;
- understanding how endometriotic cells and tissues respond to medical treatments;
- pelvic floor muscle tenderness and pelvic pain in women with endometriosis; and
- understanding the effect of surgical treatments that remove ovarian endometriosis on anti-mullerian hormone levels.
According to Dr Emma Readman, a gynaecologist and lead researcher on the study, the outlook for women hoping to conceive is improving.
Dr Readman sits on the committee which established the new clinical guidelines for endometriosis.
“IVF is getting so much better, and we’re getting to a point where we’re trying to work out whether it’s better to do the surgery, and then try and get people to get pregnant naturally, or to forget about the surgery and then really push the hard for IVF early.
We have good data that shows if you’ve got minimal to mild endometriosis, doing the surgery definitely increases fertility. We also assume that in the moderate or severe cases, it also helps, but we really haven’t teased out the [different benefits] of just surgery or surgery plus IVF or IVF alone. We are also trying to work out exactly what the reason for the fertility problems are.
For example, often these women ovulate, their tubes work, the sperm is alright too. It may be that just the inflammatory environment created by endometriosis just makes it hard for the developing embryo or implantation,” she said.
Dr Readman said the investment in collaborative research means we are able to investigate a large study population for the first time in Australia with a range of interventions—which is “exciting”.
For example, some of the work includes the investigation of novel medical treatments, such as PEA and PLD.
“They are food supplements, which have been shown to reduce inflammation and we are trialling them to see if we can reduce the pain associated with endometriosis. While we have another study looking at the role of the pelvic muscles in pain,” she said.
Dr Readman said another “hot area” of research focuses on non-invasive biomarkers of the disease.
“There are no diagnostic blood tests, because we haven’t really ever identified biomarkers of endometriosis. But our belief is that the growth in the pelvic cavity—the endometriosis—gives the best clues about which biomarkers are present in high enough numbers for a blood test to diagnose it and to distinguish it from somebody who doesn’t have it.”
However, she was unsure whether a condition characterised by inflammation in the pelvis would show up as biomarker in the urine.
“However, finding a biomarker would really help to differentiate between those patients who needed a laparoscopy or those who had milder disease in which it is not required—or in the case of patients presenting with pelvic pain for other reasons.”
Dr Readman added that she thinks pharmacists have a “big role” in helping patients with endometriosis, particularly around medication management—including hormonal treatments.
“Some patients do very well with the pill, and some people find the pill not helpful, and they might need progesterone. And some people really can’t tolerate progesterone at all. Pharmacy has a role because a lot of patients will come in complaining about side effects.
20Also, the patient with chronic pelvic pain would benefit from a pharmacist input about pain medication management and possible alternatives to what they are on for pain relief. Pharmacists also have to be aware of those patients at risk of being addicted to the harder medications,” she said.
Dr Readman added pharmacists are needed to help screen endometriosis patients for depression which common given delays in diagnosis, treatment failures and ongoing pain.
“You end up having a lot of these patients who are on multiple things, hormonal treatments, pain relief and often, mental health medication, so there are a lot of things pharmacists can do to assist.”
Likewise, she said pharmacists can have input into helping those who might suspect they have endometriosis but need referral pathways and guidance. However, one of the problems with looking at presentations of pain alone is that everyone’s experience is different, Dr Readman said.
“[We look at pain] as series of steps because people’s pain thresholds are very different. And it doesn’t tell us whether you have endo or not, which is upsetting. Pharmacists offering a pelvic pain information sheet would be very helpful as a lot of problems we see are about getting patients to the level of care they need.
Many women present to their GP, their mum or the nurse at school with period pain and they are told that’s normal. And that’s been a real barrier, so if someone keeps coming in for painkillers, every month, that might be a red flag for the pharmacist. They should say, ‘With your period pain, you’re requiring a lot of medication. I really recommend you need to go to your GP and ask for the next level of intervention’.
Similarly, if they trial medication that gives them no period, and/or simple painkillers like paracetamol and NSAIDS, and their pain is still significant and impacting on life, they need to then get the next level of investigation—which may involve ultrasound and a laparoscopy,” she said.
Showing empathy and hearing patients out is also essential, Dr Readman added.
“Most women who come to me don’t have a diagnosis but most come in pain. And when you have period pain, you are likely to have been dismissed. It is often those in recurrent pain that’s going to come again in three weeks and they are going to have to cope all over again, so it’s very hard for them. Listening to these patients is so important—and certainly something pharmacists can do.”