New insights into endometriosis diagnosis

By Eva Martin, MD of Elm Tree Medical Inc.

Painful periods, infertility, ovarian cysts- endometriosis is no joke, and it affects about 10% of women. About half of women with infertility have endometriosis, and it's the second leading reason for hysterectomy. The disease costs $22 billion a year in the US alone. You might imagine that such a common disease is easily diagnosed in the clinic. However, the gold standard for diagnosing endometriosis is surgery to view the inside of the pelvis to look for the disease. A blood test for CA-125 might be high, but this test isn't very helpful because of the high rate of false positives and negatives. Fortunately, new research is uncovering biomarkers that may one day become the standard for diagnosing chronic endometriosis.

Micro-RNAs are tiny lengths of RNA molecules that don't code for proteins but perform a variety of biologic functions including guiding how the body deals with messenger RNAs. (All the functions of micro-RNAs are yet to be discovered!) Three of these micro-RNAs (125b-5p, 451a, and 3613-5p) were recently shown to be much higher in 24 women with chronic endometriosis than 24 healthy controls. Micro-RNA 125b-5p, for instance, increases inflammatory agents like cytokines and TNF-alpha.  When scientists input the levels of all three micro-RNAs, their test was 100% sensitive and specific for diagnosing chronic endometriosis. The sample size was very small, but the researchers are hopeful that further testing will prove this new test is a simple, non-invasive way to reliably diagnose endometriosis. They have yet to discover how well the test works in women taking hormonal birth control or at various points throughout the menstrual cycle. Nevertheless, the new findings are promising.

Because endometriosis pain is often worst during women's periods, they are often misdiagnosed with "normal period pain." Many women suffer through years of misdiagnoses and unhelpful tests, bouncing from doctor to doctor before they ever find the true cause. Fortunately, many researchers are now working on a better way to diagnose endometriosis: from samples of menstrual blood (which resemble the uterine environment) to other biomarkers (endometrial proteome, endometrial stem cells...).

We want to hear from you! How long would you estimate it takes to diagnose endometriosis with our current tools? What proof would you need before using a new test to diagnose endometriosis?