Biomedical screening in diagnosing endometriosis

Posted: April 29th, 2024

Biomedical screening in diagnosing endometriosis is a relatively new idea. Endometriosis usually leads to surgery, which is not always the right solution. Currently, more patient-based ways of diagnosis and treatment are being developed.
Biomedical screening in diagnosing endometriosis is a relatively new idea. Endometriosis is a disease that affects 10% to 15% of women of reproductive age, and it can cause chronic pain, infertility, and reduced quality of life [1]. However, the diagnosis of endometriosis is often delayed by 8 to 11 years, due to the lack of accurate and non-invasive methods [2]. Currently, the gold standard for endometriosis diagnosis is laparoscopy, which is a surgical procedure that involves inserting a camera into the abdomen to visualize the lesions [3]. However, laparoscopy has several risks, such as infection, bleeding, and organ damage, and it is not widely available or affordable in many settings [4]. Therefore, there is a need for alternative diagnostic approaches that are based on clinical symptoms, imaging techniques, or biomarkers.

Clinical symptoms of endometriosis include pelvic pain, dysmenorrhea (painful periods), dyspareunia (painful intercourse), dysuria (painful urination), dyschezia (painful bowel movements), and abnormal bleeding [5]. However, these symptoms are not specific to endometriosis and can vary widely among individuals. Moreover, some women with endometriosis may have no symptoms at all [6]. Therefore, relying on clinical symptoms alone may not be sufficient for diagnosing endometriosis.

Imaging techniques, such as ultrasound or magnetic resonance imaging (MRI), can help to detect endometriotic lesions in some cases. Ultrasound can be useful for identifying ovarian endometriomas (cysts filled with blood), which are present in about 20% to 40% of women with endometriosis [7]. MRI can provide more detailed information about the location and extent of endometriotic lesions, especially in the deep infiltrating form of the disease [8]. However, imaging techniques have some limitations as well. They may not be able to detect small or superficial lesions, or lesions in areas that are difficult to access, such as the bowel or bladder [9]. They may also have low specificity, meaning that they may confuse endometriotic lesions with other benign or malignant conditions [10]. Furthermore, imaging techniques require trained personnel and equipment, which may not be available or affordable in some settings.

Biomarkers are substances that can be measured in biological fluids or tissues, such as blood, urine, saliva, or endometrial tissue. Biomarkers can reflect the presence or activity of a disease process, such as inflammation, angiogenesis (blood vessel formation), or cell proliferation [11]. Several biomarkers have been proposed for the diagnosis of endometriosis, such as CA-125 (a protein that is elevated in ovarian cancer and endometriosis), cytokines (molecules that regulate inflammation and immunity), microRNAs (small molecules that regulate gene expression), or DNA methylation (a chemical modification that affects gene activity) [12]. However, none of these biomarkers have been validated for clinical use yet. The main challenges are the lack of standardization and reproducibility of the assays, the heterogeneity and complexity of the disease, and the influence of confounding factors, such as menstrual cycle phase, hormonal treatment, or comorbidities [13].

In conclusion, biomedical screening for endometriosis is still an emerging field that requires more research and validation. Currently, no single method can provide a definitive diagnosis of endometriosis without invasive surgery. A combination of clinical symptoms, imaging techniques, and biomarkers may offer a more accurate and less invasive way to diagnose endometriosis in the future. However, more studies are needed to identify the optimal combination and criteria for each method. Moreover, more attention should be paid to the patient’s perspective and preferences when developing and implementing diagnostic strategies for endometriosis.

References:

[1] Riazi H., Tehranian N., Ziaei S., Mohammadi E., Hajizadeh E., Montazeri A. Clinical diagnosis of pelvic endometriosis: a scoping review. BMC Women’s Health. 2015;15:39. https://doi.org/10.1186/s12905-015-0196-z

[2] Chapron C., Lafay-Pillet M.C., Santulli P., Bourdon C., Maignien C., Gaudet-Chardonnet A., Maitrot-Mantelet L., Borghese B., Marcellin L. A new validated screening method for endometriosis diagnosis based on patient questionnaires. Lancet EClinicalMedicine. 2021;42:100944. https://doi.org/10.1016/j.eclinm.2021.100944

[3] Endometriosis – Diagnosis and treatment – Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/endometriosis/diagnosis-treatment/drc-20354661

[4] Nisenblat V., Bossuyt P.M., Farquhar C., Johnson N., Hull M.L. Imaging modalities for the non-invasive diagnosis of endometriosis. Cochrane Database Syst Rev. 2016;2:CD009591. https://doi.org/10.1002/14651858.CD009591.pub2

[5] Dunselman G.A., Vermeulen N., Becker C., Calhaz-Jorge C., D’Hooghe T., De Bie B., Heikinheimo O., Horne A.W., Kiesel L., Nap A., Prentice A., Saridogan E., Soriano D., Nelen W. ESHRE guideline: management of women with endometriosis. Hum Reprod. 2014;29:400-12. https://doi.org/10.1093/humrep/det457

[6] Ballard K., Lowton K., Wright J. What’s the delay? A qualitative study of women’s experiences of reaching a diagnosis of endometriosis. Fertil Steril. 2006;86:1296-301. https://doi.org/10.1016/j.fertnstert.2006.04.054

[7] Guerriero S., Condous G., van den Bosch T., Valentin L., Leone F.P.G., Van Schoubroeck D., Exacoustos C., Installé A.J.F., Martins W.P., Abrao M.S., Hudelist G., Bazot M., Alcazar J.L., Gonçalves M.O., Pascual M.A., Ajossa S., Savelli L., Dunham R., Reid S., Menakaya U., Bourne T. Systematic approach to sonographic evaluation of the pelvis in women with suspected endometriosis, including terms, definitions and measurements: a consensus opinion from the International Deep Endometriosis Analysis (IDEA) group. Ultrasound Obstet Gynecol. 2016;48:318-32. https://doi.org/10.1002/uog.15955

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