Endometriosis is not straight-forward to diagnose. The European Society of Human Reproduction and Embryology (ESHRE) guidelines state that definitive diagnosis of most forms of endometriosis requires visual inspection of the pelvis using laparoscopy.

Work to identify a reliable biomarker of the condition that could be measured in the blood is at a very preliminary stage. Encouragingly, specific genetic alterations have recently been identified in the blood of women with endometriosis, so there is optimism that a panel of genetic markers could, one day, be identified.

Step-by-step approach

Following an initial consultation, during which symptoms can be discussed and explored in detail,  doctors will typically adopt a step-by-step approach when it comes to diagnosing endometriosis.

1. Pelvic exam. Some endometrial lesions may be palpable through the abdomen.
2. Ultrasound/MRI. These imaging techniques may identify abnormal masses, although they will not usually be able to discern the exact composition of any lesions.
3. Blood test. Until a reliable marker is found, blood tests are used predominantly to rule out other conditions. High testosterone levels, for example, would suggest polycystic ovary syndrome (PCOS).
4. Treatment. For those unwilling to undergo surgery, treating with some of the medications known to improve endometriosis symptoms, might give circumstantial support to a diagnosis.
5. Laparoscopy. The current ‘gold standard’ for diagnosis. A cut is made in the abdomen and the doctor uses a camera to explore the inside of the pelvic cavity in detail. During this process visible lesions can be removed and tissue biopsies can be taken for further testing.

Building up a relationship of trust with your doctor

The initial consultation you have with your gynaecologist is key. It is important to have a relationship based on trust, and you need to feel that your doctor is approachable and understanding from the first meeting onwards.

Dr. Salma Kayani, an endometriosis specialist based out of Taiba Hospital in Kuwait, highlights the value of finding a doctor who has the clinical expertise to use empathy, time and experience to reach an accurate diagnosis:

“‘the bottom line is that a trained and experienced clinician can talk to the patient, do a bimanual examination, and get to an accurate diagnosis”.

Using transvaginal ultrasound for diagnosis

It is possible that for some forms of endometriosis the use of transvaginal ultrasounds might replace the more invasive surgical techniques currently in use. A skilled radiographer should be able to use ultrasound to identify most cases of deep endometriosis affecting the pelvic cavity. They will systematically examine the following regions to look for endometrial deposits:

• Bowel
• Uterus (where concurrent adenomyosis will also be checked)
• Pouch of Douglas
• Adnexa
• Urinary bladder and ureters (anterior compartment)
• Vaginal fornix, rectovaginal septum and uterosacral ligament (posterior compartment).

Endometriosis located elsewhere in the body will not be detectable using this technique. Stage I endometriosis of the pelvis, also termed minimal, or superficial disease, is also unlikely to be detectable using ultrasound investigation. Stages II to IV (mild, moderate and severe) are more likely to be detected using ultrasound.

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Sources:

• Kennedy, S, et al. “ESHRE Guideline for the Diagnosis and Treatment of Endometriosis.” Human Reproduction, vol. 20, no. 10, Oct. 2005, pp. 2698–2704., doi:10.1093/humrep/dei135.
• Leonardi, Mathew, and George Condous. “How to Perform an Ultrasound to Diagnose Endometriosis.” Australasian Journal of Ultrasound in Medicine, vol. 21, no. 2, 22 Apr. 2018, pp. 61–69., doi:10.1002/ajum.12093.
• Reproductive, American Society For. “Revised American Society for Reproductive Medicine Classification of Endometriosis: 1996.” Fertility and Sterility, vol. 67, no. 5, May 1997, pp. 817–821., doi:10.1016/s0015-0282(97)81391-x.
• Sapkota , Sapkota, et al. “Meta-Analysis Identifies Five Novel Loci Associated with Endometriosis Highlighting Key Genes Involved in Hormone Metabolism.” Nature Communications, vol. 8, no. 15539 , 24 May 2017, doi:10.1038/ncomms15539 .
• “The Path to Diagnosis May Not Always Be Simple.” SPEAKENDO.com, AbbVie, www.speakendo.com/about-endometriosis/testing.