Clinical casebook: Diagnosis and management of endometriosis

GPs with gynaecology specialism Dr Karin Schachinger and Dr Belinda Solomon discuss the diagnosis and management of endometriosis, explaining key symptoms and risk factors, the role and limitations of investigations, treatment options in primary care and when specialist referral is appropriate. Complete the full module on Pulse 365 today.

Endometriosis is a common yet often under-recognised chronic inflammatory condition that affects around 1.5 million women in the UK and can have a profound impact on physical, psychological and reproductive health. Despite its prevalence, diagnosis is frequently delayed, with symptoms often overlapping with other conditions and varying considerably between individuals. GPs play a pivotal role in recognising potential presentations, initiating appropriate investigations and treatment, and supporting patients through what can be a complex and challenging care journey.

This case-based module explores the diagnosis and management of endometriosis, examining key symptoms and risk factors, the role and limitations of investigations, evidence-based treatment options available in primary care, and when referral to specialist services is indicated. The module also highlights the significant mental health burden associated with endometriosis and the importance of delivering holistic, patient-centred care.

Case 1. Woman in late 20s with long history of painful, heavy periods

A 28-year-old woman attends with a long history of painful and heavy periods. She is on no treatment. She has Googled her symptoms and says, ‘I’d like to have a scan and a thorough assessment for endometriosis’. She adds that her sister has recently received this diagnosis, and she suspects her mother had it, too.

1. What are the flags in the history that should alert the GP to a possible diagnosis of endometriosis?

Overall, evidence to predict endometriosis based on clinical symptoms alone is weak and incomplete. In women seeking help from general practitioners, the following symptoms were found to be risk factors for endometriosis: pelvic pain (cyclical, intermittent or persistent), deep dyspareunia, dysmenorrhoea, menorrhagia, dysuria and dyschezia as well as rectal bleeding during menstruation, fatigue and infertility. Reporting multiple symptoms increases the likelihood of endometriosis.¹

Endometriosis symptoms in adolescents

Unlike in adults, in whom diagnosis can be suggested based on pain or infertility, in adolescents a suspected diagnosis of endometriosis is most often based on pain symptoms only. It has been speculated that endometriosis in adolescents may be more progressive than endometriosis in adults, and that clinical presentation of endometriosis in adolescents has a more varying pattern as compared to the presentation in adults. Women with onset of symptoms during adolescence more frequently report other symptoms over their lifetime compared to onset of symptoms as adults: having menstrual pain in combination with ovulatory as well as non-menstrual pain, heavy bleeding, premenstrual spotting, bowel symptoms and systemic symptoms including nausea/stomach upset or dizziness/headache during menses.¹

One study found that the following factors, present in adolescence, were more frequent in women with deep endometriosis as compared to women with superficial or ovarian endometriosis: a positive family history for endometriosis; non-contraceptive use of oral contraceptives; and absenteeism from school.²

2. How important is the family history?

The odds of diagnosing endometriosis are approximately four times greater in first-degree relatives of persons with endometriosis compared with persons without endometriosis. Establishing whether the patient does have a family history of endometriosis in a first degree relative should be included in history taking.³

3. Is a pelvic examination likely to be helpful in this situation?

Yes absolutely. A bimanual pelvic examination will tell the clinician about reduced uterine mobility, localised tenderness and palpable endometriosis nodules. Uterine mobility or rather a lack thereof was found as a predictive marker in another retrospective study of almost 800 infertile women with surgically confirmed endometriosis. Rectovaginal digital examination may allow the detection of infiltration or mass involving the rectosigmoid colon or adnexal masses.¹

4. What investigations should the GP arrange?

In primary care, it would be appropriate to arrange vaginal swabs to exclude infections, including sexually transmitted ones, if appropriate as well as a transvaginal ultrasound scan. Applying imaging methods and the interpretation of their results can be dependent on the scanning clinician’s experience and skill and the availability of the imaging equipment.¹

A transvaginal ultrasound scan can confirm the clinical suspicion of endometriosis by identifying endometriomas but one cannot exclude endometriosis based on a normal ultrasound scan. Superficial or microscopic endometriosis will not be identified by ultrasound scan in all cases, and diagnostic accuracy of ultrasound is operator dependent. It is recommended to not exclude endometriosis if an ultrasound scan is negative and if there is clinical suspicion to refer for further investigations.¹

There is currently no role for endometriosis specific biomarker testing in blood or saliva.¹

Investigations in adolescent girls

Transvaginal ultrasound is a well-accepted diagnostic tool especially for ovarian endometriosis in adult women, but in adolescents, especially in adolescents with an intact hymen, transvaginal ultrasound should only be carried out after careful consideration with the patient and her caregiver. Alternatives for transvaginal ultrasound may be transabdominal, trans perineal or transrectal ultrasound. Based on the age and cultural background of the adolescent, the most appropriate method must be selected.1

5. What differentials might they help rule out? Should the patient be referred anyway, in which case should the investigation pathway be left to secondary care?

Vaginal swabs will be useful to rule out infections, including sexually transmitted, as a cause of pelvic pain and irregular/heavy bleeding. They should be offered to the patient as appropriate.

Transvaginal ultrasound scanning can identify potential other causes of pelvic pain and heavy menstrual bleeding such as fibroids, large ovarian cysts, endometrial polyps or other structural abnormalities.

Laparoscopy is the accepted standard to diagnose abdominal endometriosis, but is expensive, invasive, and associated with morbidity and mortality. On the other hand, direct, photographic, and histological proof of lesions could potentially be an important psychological factor for women who have been suffering from the symptoms of an otherwise invisible disease, creating a platform of acceptance for themselves and their environment. The decision to undergo laparoscopic surgery must therefore weigh the potential benefits against its risks.

Practically, a two-step approach should be sought which would include a transvaginal (where appropriate) ultrasound followed by empirical treatment (if the patient is not trying to conceive). Particularly in the primary care setting if endometriosis is suspected, imaging results are negative and the affected person is not acutely trying to conceive, symptomatic patients can be offered hormonal treatment – usually in the form of the oral contraceptive pill or progestogens – as a first-line treatment. If symptoms improve, endometriosis is presumed to be the main underlying condition, although there may be other, in some cases co-existent, clinical causes.

A referral to secondary care may or may not be of advantage for the individual patient. If a diagnosis has been established in primary care (via imaging) and the patient’s symptoms are controlled with medical treatment, a secondary care referral may not be necessary at this point.¹

Click here to complete the full module and log 2 CPD hours towards revalidation

Dr Karin Schachinger is Clinical Lead and Dr Belinda Solomon is GPwER in gynaecology at The Gynaecology Collaborative, Islington GP Federation in North London

References