While several companies are working to develop one, there is no single blood test that can definitively diagnose endometriosis yet. It takes a long time to determine if a test has the reliability “so that no patients with actual endometriosis would be missed and no women without endometriosis would be selected for potentially unnecessary additional procedures” (Signorile & Baldi, 2018). Some blood tests can be used to rule out other problems and can give an indication to investigate further. In addition to blood tests, labwork could include analysis of peritoneal fluids that can indicate the inflammatory process from endometriosis (although this is done more for research purposes) (Wang, Ma, & Song, 2018). Part of the labwork from surgery includes the histology (looking at the tissue under the microscope) to identify the tissue as endometriosis.
“The gold standard for the diagnosis of peritoneal endometriosis has been visual inspection by laparoscopy followed by histological confirmation. However, the invasive nature of surgery, coupled with the lack of a laboratory biomarker for the disease, results in a mean latency of 7–11 years from onset of symptoms to definitive diagnosis. Unfortunately, the delay in diagnosis may have significant consequences in terms of disease progression. The discovery of a sufficiently sensitive and specific biomarker for the nonsurgical detection of endometriosis promises earlier diagnosis and prevention of deleterious sequelae and represents a clear research priority….The most important goal of the test is that no women with endometriosis or other significant pelvic pathology are missed who might benefit from surgery for endometriosis-associated pain and/or infertility.” (Fassbender et al., 2015, para. 1, 5)
Under Investigation:
- Mitocondrial DNA: Blood test to diagnose endometriosis?
- MicroRNA biomarkers
- Diagnostic biomarkers for endometriosis
Studies:
- Anastasiu, C. V., Moga, M. A., Elena Neculau, A., Bălan, A., Scârneciu, I., Dragomir, R. M., … & Chicea, L. M. (2020). Biomarkers for the Noninvasive Diagnosis of Endometriosis: State of the Art and Future Perspectives. International Journal of Molecular Sciences, 21(5), 1750. Retrieved from https://www.mdpi.com/1422-0067/21/5/1750
“The majority of studies focused on a panel of biomarkers, rather than a single biomarker and were unable to identify a single biomolecule or a panel of biomarkers with sufficient specificity and sensitivity in endometriosis. Conclusion: Noninvasive biomarkers, proteomics, genomics, and miRNA microarray may aid the diagnosis, but further research on larger datasets along with a better understanding of the pathophysiologic mechanisms are needed.”
- Coutinho, L. M., Ferreira, M. C., Rocha, A. L. L., Carneiro, M. M., & Reis, F. M. (2019). New biomarkers in endometriosis. In Advances in Clinical Chemistry (Vol. 89, pp. 59-77). Elsevier. Retrieved from https://www.sciencedirect.com/science/article/pii/S006524231830074X
“Despite decades of research, there are no sufficiently sensitive and specific signs and symptoms nor blood tests for the clinical confirmation of endometriosis, which hampers prompt diagnosis and treatment. The huge majority of potential biomarkers has been discarded in research stage and very few have been translated to clinical practice. Serum CA-125 is the most studied and used one, but studies have shown its poor diagnostic performance. Several factors involved in the chronic inflammatory process of endometriosis, such as hormones, cytokines, chemokines, angiogenic factors, oxidative stress markers and others, have been implicated in the disease’s pathogenesis and have been extensively studied, but not a single one has successfully been able to accurately identify the disease. MicroRNAs have emerged more recently but their utility to detect endometriosis remains uncertain. The search for a biomarker or a set of biomarkers is still open and may benefit from novel molecular biology and bioinformatics approaches to mine and uncover molecular signatures specifically associated with the disease.”
- Signorile, P. G., & Baldi, A. (2018). Looking for an effective and non-invasive diagnostic test for endometriosis: where are we?. Annals of translational medicine, 6(Suppl 2). Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330624/
“Numerous studies have been carried out with the aim of identifying endometriosis diagnostic markers in the serum. Unfortunately, none of the proposed biomarkers has been found to date, by themselves, to reach a clinically significant diagnostic specificity, as recently reviewed (15–17). As a consequence, none of the investigated biomarkers is presently used in routine clinical care.
“An ideal diagnostic test for endometriosis should have high sensitivity and high specificity, displaying a low number of false negative and false positive results, so that no patients with actual endometriosis would be missed and no women without endometriosis would be selected for potentially unnecessary additional procedures.”
References
Fassbender, A., Burney, R. O., F O, D., D’Hooghe, T., & Giudice, L. (2015). Update on biomarkers for the detection of endometriosis. BioMed research international, 2015. Retrieved from https://www.hindawi.com/journals/bmri/2015/130854/
Wang, X. M., Ma, Z. Y., & Song, N. (2018). Inflammatory cytokines IL-6, IL-10, IL-13, TNF-α and peritoneal fluid flora were associated with infertility in patients with endometriosis. Eur Rev Med Pharmacol Sci, 22(9), 2513-2518. https://www.europeanreview.org/wp/wp-content/uploads/2513-2518.pdf
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