Dr Anne Connolly Offers 10 Top Tips on the Identification, Investigation, and Treatment of Suspected Endometriosis in Primary Care
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Endometriosis is estimated to affect 1.5 million women in the UK, a prevalence comparable to the number of women with diabetes.1 However, under-recognition, poor understanding, and delayed treatment of the condition leave many women feeling unsupported.2 Barriers to care include:2
- poor education about periods and what constitutes a normal menstrual cycle
- stigma associated with discussing period problems and painful sex
- patients’ and practitioners’ lack of awareness of the symptoms and signs of endometriosis and the benefits of early intervention
- patients being supported to deal with consequences of the disease, such as painful periods, without investigation of their cause.
In 2017, NICE published NICE Guideline 73, Endometriosis: diagnosis and management,3 to raise awareness of the symptoms of endometriosis and optimise its management in healthcare settings. However, despite uptake of this guidance across the UK, the All Party Parliamentary Group (APPG) on Endometriosis’ 2020 report, Endometriosis in the UK: time for change,2 found that there had been no significant improvement in care for women with endometriosis—in fact, further disruptions to care have resulted from pressures caused by the COVID-19 pandemic.4
What is Endometriosis?
Endometriosis is a chronic, neuroinflammatory condition defined by the ‘presence of endometrial-like tissue outside the uterus’.5 These endometrium-like tissue deposits are most commonly found in the pelvis, including on the ovaries, pouch of Douglas, rectum, bladder, and ureters.6 In rarer cases, deposits may be found outside the pelvis, for example affecting the diaphragm or pleural cavity.5 Adenomyosis, in which endometriotic deposits form in the myometrium (the muscle of the uterus), is considered to be a separate condition.7
The underlying aetiology of endometriosis is not fully understood, but the condition is known to be hormonally mediated,5 as endometriotic deposits respond to the normal cyclical hormonal changes that induce menstrual bleeding.3 The deposits can cause significant menstrual pain and other cyclical symptoms dependent on disease site3—for example, haematuria and dysuria if endometriotic lesions are present in the bladder.6
Complications of untreated endometriosis depend on disease site, and include:
- development of endometriomas (ovarian cysts containing blood and endometrium-like tissue), which can rupture and are thought to affect fertility by distorting pelvic anatomy8
- fertility problems, although it is unclear whether there is a causal link between endometriosis and infertility8—however, severe endometriosis can lead to tubal adhesions, disturbed function of the fallopian tubes, poor implantation, and reduced ovarian reserve, as well as reduced oocyte and embryo quality9–11
- formation of adhesions, caused by endometriosis itself or secondary to surgery, that can cause chronic pelvic pain, fertility issues, and partial or complete bowel obstruction12
- reduced quality of life, with a significant impact on aspects of daily life including relationships, sexual health, work, fitness, wellbeing, and mental health.2,5
With reference to the NICE guideline3 and the Primary Care Women’s Health Forum (PCWHF)’s Top tips on endometriosis13 resource, this article provides 10 top tips on the investigation and management of suspected endometriosis, emphasising the importance of earlier recognition and treatment to prevent long-term consequences of the disease.
1. Suspect Endometriosis in Women With Relevant Signs and Symptoms
Diagnosis is a problematic area of endometriosis care, with significant diagnostic delays preventing access to treatment. Because a diagnosis of endometriosis can only be confirmed visually during surgery (usually laparoscopy),5,14 most women are currently being ‘diagnosed’ based on their clinical history and the exclusion of alternative causes. Relatedly, the average interval between symptom onset and definitive diagnosis is 8 years in the UK,2 with one-third of patients consulting their GP six or more times before receiving a diagnosis.14
Furthermore, endometriosis is challenging to diagnose because of the symptomatic overlap between the condition and other causes of pelvic pain, such as irritable bowel syndrome or pelvic inflammatory disease (PID).5,6 The high prevalence of primary dysmenorrhoea in the first few years following menarche can also lead clinicians to overlook endometriosis in younger patients.15
The NICE guideline therefore encourages clinicians to have a low threshold for considering endometriosis, recommending that they suspect the condition in women presenting with one or more of the main symptoms or signs shown in Box 1.3
|Box 1: Signs and Symptoms of Endometriosis3|
Suspect endometriosis in women (including young women aged 17 and under) presenting with 1 or more of the following symptoms or signs:
© NICE 2022. Endometriosis: diagnosis and management. NICE Guideline 73. NICE, 2017. Available at: www.nice.org.uk/ng73
All rights reserved. Subject to Notice of rights. NICE guidance is prepared for the National Health Service in England. All NICE guidance is subject to regular review and may be updated or withdrawn. NICE accepts no responsibility for the use of its content in this product/publication. See www.nice.org.uk/re-using-our-content/uk-open-content-licence for further details.
2. Advise Women to Keep Menstrual Diaries
The symptoms of endometriosis tend to be cyclical—in many cases, they will commence immediately before menstruation and cease as bleeding ends, becoming more chronic with ongoing unmanaged disease.5 A diary of all cyclical symptoms, including dysmenorrhoea, dysuria, and dyschezia, is a useful tool that can help with both diagnosis and assessment of treatment outcomes, and is recommended by both NICE and the PCWHF as a measure to aid healthcare discussions.3,13
3. Offer a Physical Examination, As Well As Sexual Health Screening, When Appropriate
NICE recommends that clinicians offer women with suspected endometriosis an abdominal and pelvic examination, with the intention of identifying abdominal masses and pelvic signs of endometriosis such as visible vaginal endometriotic lesions, reduced organ mobility, organ enlargement, or tender nodularity in the posterior vaginal fornix.3,16 However, the findings are usually minimal—typically, no abnormalities are found in the physical examination of patients with endometriosis,17 and NICE stresses that a normal examination does not exclude the possibility of endometriosis.3,16 In reality, pelvic examination should only be offered when appropriate,3 and is most useful when there is a need to exclude alternative diagnoses16 such as PID. The PCWHF also recommends considering sexual health screening, when appropriate, for women with suspected endometriosis.13
4. Request Ultrasound Scanning When Investigating Suspected Endometriosis, and Consider Diagnostic Laparoscopy
NICE recommends ultrasound scanning first line for the investigation of endometriosis.3 Transvaginal ultrasound is the imaging modality of choice; if this is not appropriate, a transabdominal ultrasound scan of the pelvis is an alternative option,2 although this method has a lower diagnostic sensitivity.18 When requesting an ultrasound scan, it is important to specify that endometriosis is a likely diagnosis on the scan request, as this will prompt sonographers to look more specifically for minute endometriotic deposits.
Although a normal ultrasound scan indicates the absence of endometriomas, it does not exclude the possibility of endometriosis in general,3 as endometriotic deposits are hard to detect using this method. Diagnostic laparoscopy is the gold-standard investigation because it enables direct visualisation of any endometriotic deposits; however, it is invasive, involves surgical risk, and is not chosen or indicated in every case.19
5. Discuss Analgesia and Hormonal Treatments at an Early Stage, and Consider Imminent Fertility Requirements
If a patient’s history is suggestive of endometriosis, treatment should be commenced at the earliest opportunity,13 as early diagnosis and treatment will help to minimise the negative impact of endometriosis on a woman’s life course.20 General first-line treatment options are outlined in Figure 1.
Figure 1: Initial Treatment Options for Endometriosis
The use of hormonal treatments, with the ambition of inducing amenorrhoea to reduce the negative effects of endometriosis, is a central aspect of endometriosis care.3,21,22 Hormonal treatments are generally preferred, as they stop bleeding and reduce ongoing problems such as pain, whereas other treatment modalities only control symptoms. The aim is to suppress ovarian activity, thus preventing cyclical proliferative changes in endometriotic deposits and reducing the symptoms and risk of scarring associated with the inflammatory response.5 Standard hormonal treatments include the combined oral contraceptive pill, progestogen-containing intrauterine system, and other hormonal contraceptives,3,21 with second-line treatment possibilities including gonadotropin-releasing hormone analogues.23 Because of their contraceptive effects, hormonal treatment options should be avoided in women with endometriosis who are considering pregnancy.3
Analgesics are another pharmaceutical treatment option, particularly if hormonal treatments are initially rejected, although it is important to note that they are used to reduce pain rather than to treat the condition itself.22 Nonsteroidal anti-inflammatory drugs are generally efficacious, starting prior to menstruation and continuing throughout to gain maximum benefit, but other options are available, including simple analgesics such as paracetamol24—for more complex pain management involving neuromodulators or neuropathic pain treatment, NICE recommends referring to its guideline on this topic.3,25
Women who do not want surgical treatment but who are experiencing mild-to-moderate symptoms, with no suggestion of an endometrioma, may be indicated for medical therapy.26 A review should be carried out after 3–6 months, or earlier if requested.26 Review appointments in primary care are opportunities to assess the outcomes of any treatment and consider further actions.
6. Recognise the Effect of Endometriosis on Patients’ Psychological and Social Wellbeing
Endometriosis can cause suffering, distress, and economic hardship for individuals, and delays in diagnosis can have a significant impact both socially and psychologically.27 In 2012, the economic impact of endometriosis in the UK was estimated to be around £8.2 billion per year, primarily due to absenteeism from work and healthcare costs.1,28
A 2020 survey conducted by Endometriosis UK and the APPG on Endometriosis found that, of over 10,000 respondents living with endometriosis:2
- 95% said their symptoms had a negative or very negative impact on their wellbeing
- 90% would have liked to access psychological support, but were not offered it
- 89% said that their symptoms negatively, or very negatively, affected their ability to live their life as they wanted.
Further results covering other impacts of endometriosis on patients are detailed in the full APPG on Endometriosis report, including effects on respondents' everyday life, work, and education.2
7. Provide Information and Support, and Signpost to Endometriosis UK
The charity Endometriosis UK29 has many useful online resources for patients, clinicians, family members, and carers, as well as clinical education resources. NICE’s patient decision aid, Hormone treatment for endometriosis symptoms—what are my options?,21 also lists the risks and benefits of the available hormonal treatment options, and can be used to empower women to make informed choices about their short- and long-term treatment.21
It is important that clinicians recognise that the impact of endometriosis goes beyond physical symptoms such as pain, and refer patients to support services, for example for help with anxiety and depression, if indicated.
8. Know When to Refer to Secondary Care, Including for Surgery
Referral to secondary care is not indicated for every woman with suspected or confirmed endometriosis, particularly if their response to initial treatment has been satisfactory and they make an informed choice to continue with their current regimen.
However, referral to gynaecology services for an opinion or ultrasound is indicated if:3
- initial management fails to improve symptoms, is not effective, or is not tolerated
- symptoms recur, worsen, or persist despite treatment
- the woman requests referral
- the woman has pelvic signs of endometriosis, such as a pelvic mass that is found on examination
- an endometrioma is found on ultrasound scan.
Referral to a specialist endometriosis centre is specifically recommended if the patient is suspected or confirmed to have endometriosis outside the pelvic region, or deep endometriosis involving the bowel, bladder, or ureter.3 Symptomatic and hormonal treatment should be continued, as appropriate, while waiting for specialist opinion.
As endometriosis surgery is complex and sometimes requires additional input from surgeons, referral to a specialist endometriosis centre may be preferable where possible. Details of these specialist centres are provided on the British Society for Gynaecological Endoscopy website.30
9. Assess the Benefits and Risks of Different Types of Hormone-Replacement Therapy Following Surgery
Laparoscopic surgery, in which endometrial tissue deposits are removed through excision or ablation, is the mainstay of surgical treatment for endometriosis.3 However, with ongoing problems such as heavy menstrual bleeding, hysterectomy or bilateral salpingo-oophorectomy may be required.3,31 These surgeries are intended to stop ovarian cyclical activity and prevent the progression of endometriosis, so are likely to induce acute menopausal symptoms that may require management with hormone-replacement therapy (HRT).31
Oestrogen-only HRT is the standard pharmacotherapy for women following hysterectomy.32 However, this therapy theoretically risks hyperplastic change in any untreated remaining endometriotic deposits.32 Therefore, the British Menopause Society (BMS) guidance Induced menopause in women with endometriosis recommends the use of continuous combined HRT for women with endometriosis following hysterectomy, to reduce the risk of malignant transformation.31
The BMS suggests considering switching to oestrogen-only HRT after 3 years of continuous combined formulations post-surgery.13 This change may only be appropriate when the disease is not considered to be severe, and requires an individualised discussion with the patient.
10. When Treating Endometriosis, Consider the Long-Term Management of Fertility Issues
Ongoing untreated endometriosis and recurrent cyclical bleeding are likely to cause scarring, long-term damage, and ongoing pain, and can have an effect on fertility.5 Although the association between endometriosis and fertility is not fully understood, reduced fertility is common in women with endometriosis, affecting up to 50% of those with the disease,1,33 and delays in treatment have the potential to reduce an individual’s chances of pregnancy further. Possible effects of endometriosis that may cause subfertility include:9–11,34
- reduced ovarian reserve, and reduced oocyte and embryo quality
- altered or impaired implantation
- adhesion-related tubal occlusion
- decreased frequency of coitus, because of associated pain.
When fertility is a priority, it is important that women with proven or suspected endometriosis are referred to a fertility service at an early stage,3 and that routine investigations relating to fertility are performed in primary care.35 When considering fertility, NICE suggests referring to the related recommendations in its guideline on fertility problems.35
Endometriosis is a common and often distressing condition. The initial cyclical pain may disrupt education and opportunities, with ongoing disease causing longer-term complications including recurrent surgery, infertility, and chronic pelvic pain. It is essential that clinicians in primary care recognise endometriosis at an early stage, offering physical, social, and psychological support aimed at optimising the life opportunities of women with endometriosis and reducing the potential longer-term complications caused by the disease.
Laparoscopy with histological confirmation has long been the gold-standard diagnostic tool for endometriosis,3,18,22 but limited access and higher risks can contribute to delays in diagnosis. The improvement of diagnostic techniques and development of effective noninvasive tests for endometriosis are currently top research priorities,36 and promising novel medical treatments are in development that may help to improve the lives of many.5,37
In this article, we have used the term 'woman' throughout. This should be taken to include people who do not identify as women, but who were assigned female sex at birth.
Note: At the time of publication (January 2023), some of the drugs discussed in this article did not have UK marketing authorisation for the indications discussed. Prescribers should refer to the individual summaries of product characteristics for further information and recommendations regarding the use of pharmacological therapies. For off-licence use of medicines, the prescriber should follow relevant professional guidance, taking full responsibility for the decision. Informed consent should be obtained and documented. See the General Medical Council’s Good practice in prescribing and managing medicines and devices for further information.