Illustration of woman holding abdomen cloud, which is breaking free.
Illustration: Kasia Kozakiewicz
Endometriosis is a common condition where cells similar to those in the lining of the womb grow in other parts of the body.
It affects around 10 per cent of women, and up to 50 per cent of women who are infertile, and can have a significant impact on their quality of life. Yet, it remains very difficult to diagnose. Currently, a diagnosis takes, on average, almost nine years and that figure is increasing.
There are several reasons for this. But the main one is that the symptoms of endometriosis, which include bloating, pelvic pain and painful periods, can be present in a number of other conditions, such as fibroids, ovarian cancer, pelvic inflammatory disease and irritable bowel syndrome.
Currently, the gold-standard test is a diagnostic laparoscopy. It takes place under general anaesthetic, during which a small camera is inserted into the patient (typically through an incision near their belly button) to view their pelvis and abdomen.
This way, the body’s internal cavities can be inspected, and any endometriotic lesions or cysts (endometriomas) can be identified and assessed.
Woman holding abdomen in pain.
Endometriosis can cause pain, fatigue, and sometimes infertility. - Photo credit: Getty
In addition to being invasive, painful and costly, the procedure isn’t 100 per cent accurate. Endometriotic lesions can be confused with other types of lesions, and only biopsies can deliver definitive results.
Often, a diagnostic laparoscopy carried out without biopsies can lead to unnecessarily prolonged medical treatment and operations, and may even delay the correct treatment being administered.
To combat this, several research teams are racing to develop a more effective endometriosis test – one that can detect all forms of the disease and deliver faster diagnoses, while being both affordable and comfortable for patients.
One recently launched option is the Ziwig Endotest. Developed by a French research group, it’s a saliva-based test that works by sequencing 109 microRNAs and using artificial intelligence to analyse and compute the results. It’s reported to detect endometriosis at an early stage with a sensitivity of up to 97.4 per cent in women aged 18 to 43 with one or more symptoms that could be related to endometriosis.
MicroRNAs are small fragments of ribonucleic acid that are involved in regulating when certain genes are ‘switched on or off’. This test exploits the link between certain microRNAs and the development of endometriotic lesions. The team has been able to develop this from a blood test to a saliva test.
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Another promising development is the PromarkerEndo blood test. Developed in Australia, this test looks for the presence of 10 proteins associated with endometriosis.
It has been shown to have up to 99.7 per cent accuracy in patients with the most severe form of endometriosis and more than 85 per cent accuracy in catching the disease in its early stages.
It has also been shown to be highly accurate in confirming that women showing some symptoms of endometriosis don’t have the disease.
Illustration of a womb
Pain from endometriosis can significantly impact quality of life - Photo credit: Getty
Both these tests are still yet to be fully adopted by healthcare professionals and much more data needs to be collected to prove their real-world efficacy. Nevertheless, the ability to definitively tell a patient whether they do or don’t have endometriosis is a significant development.
Elsewhere, Hera Biotech is developing the MetriDx test, which analyses multiple genes linked to endometriosis. This could replace the diagnostic laparoscopy by taking a biopsy from the womb to provide a direct diagnosis. While it is more invasive than a blood or saliva test, it doesn’t require surgery.
The early results for MetriDx are promising: the test has an overall accuracy of 94 per cent and demonstrates robust accuracy in diagnosing different stages of the disease.
Another approach is to use imaging tools like ultrasound and MRI, which, while important for endometriosis care, often miss lesions. The University of Oxford and Serac Healthcare are developing a new technique using a novel marker named 99mTc-maraciclatide, which attaches to inflamed tissue.
This method better identifies superficial endometriosis in 80 per cent of cases, deep endometriosis and endometriomas, and has even found lesions that ultrasound scans missed.
All this represents critical progress towards transforming patient care by dramatically reducing the diagnostic delay and potentially improving the quality of life for millions of women worldwide.
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