EndoShare: Focus on Endometriosis Diagnosis
Endometriosis is defined as a chronic inflammatory disease characterized by the presence of endometrial tissue outside the uterus that causes chronic pelvic pain, dysmenorrhea, dyspareunia, and infertility,1 all of which result in significant morbidity and diminished patient quality of life.2 Data estimate that up to 10% of women of reproductive age may suffer from endometriosis.3,4 But since many females with endometriosis are undiagnosed,5 a significant proportion of women experience the symptoms of endometriosis without understanding the cause or their appropriate management.6
Typical symptoms of endometriosis include dysmenorrhea, dyspareunia, menorrhagia, non-menstrual cycle pelvic pain, dysuria, chronic fatigue, and infertility.7,8 These symptoms can disrupt work and home lives and can contribute to physical and emotional suffering.9-11 Although diagnosis of endometriosis may occur in the second or third decade of life, one-third of patients first experience symptoms before the age of 15; the average delay in diagnosis is >9 years.12 Several factors contribute to this diagnostic delay, including misdiagnosis and “normalization” of symptoms by the patient.13Of note, diagnostic delay in endometriosis is a worldwide problem.13 That is why an early and accurate diagnosis is critical to the optimal management of the disease. Indeed, failure of timely diagnosis and adequate treatment may lead to disease progression compromising fertility and increasing the risk of chronic pelvic pain.14-16
Chronic pelvic pain may include endometriosis but may also include adenomyosis, pelvic inflammatory disease, or ovarian or tubal masses.17 Moreover, pelvic pain may not necessarily be due to gynecologic causes and may be due to gastrointestinal, urinary, neurologic, and musculoskeletal disorders.17 The presence of endometriotic lesions does not preclude other etiologies accounting for the patient’s symptoms, but the lack of obvious lesions does not preclude the possibility of endometriosis.6 Further complicating its diagnosis is the poor correlation between symptoms as well as the severity and extent of the disease.18
Gastrointestinal etiologies of non-menstrual pelvic pain include:19
- Irritable bowel syndrome (IBS)
- Inflammatory bowel disease (IBD)
- Celiac disease
- Chronic constipation
- Diverticular disease
- Cancer (colon) – in the older patient
Urologic etiologies of non-menstrual pelvic pain include:19
- Interstitial cystitis (the “evil twin” to endometriosis)20
- Recurrent urinary tract infection (UTI)
- Stone(s) in the bladder
- Urethral syndrome
- Pelvic floor dysfunction
Differentiating endometriosis from these conditions may be difficult as symptoms are similar and may follow a cyclic or constant pattern.17 A thorough examination to exclude other causes of pelvic pain should be conducted before instituting aggressive therapy for endometriosis. Many clinical practice guidelines for endometriosis recommend the treatment of symptoms before obtaining a definitive surgical diagnosis.17,21,22 Although biomarkers have been proposed, they are not recommended for the diagnosis of endometriosis, as none have been validated for endometriosis.23
“Endometriosis is a very different disease than arthritis of the hand or elbow. Endometriosis affects the whole family—the whole family has pain. You can’t help with homework. You can’t go to the soccer game. Your whole life is affected. As a physician, you need to take a more global viewpoint—beyond simply the patient”.
- Stephen M. Cohen, MD, FACOG
Patient Interviews – Asking the Right Questions
Diagnosis should be based on a thorough process of patient interviews, clinical examination, and imaging;1 guidelines state that exploratory laparoscopy is no longer necessary to make a presumptive diagnosis of endometriosis prior to beginning treatment.1Questions that may be asked during patient interviews include:19
- What is the pain like?
- Where is the pain?
- When did the pain start?
- What makes the pain worse?
- What makes the pain better?
- Is the pain cyclic?
- Is there any effect from food, intercourse, bowel movements, or urination?
- What else may be associated with the pain?
“Just listen to your patient; she [he] is telling you the diagnosis.”
-Adapted from Sir William Osler (1849-1919)
Assessing the level of pain in patients with symptoms of endometriosis can be difficult for physicians.17 Methods of pain assessment include the visual analog scale, the McGill questionnaire, and quality of life scales, such as the SF-36 (see Table for additional assessment tools). Such methods can also be used to assess treatment response to therapy.17
Table. Various Pain Assessment Tools for Endometriosis.24
Current evidence may support the clinical diagnosis of endometriosis as opposed to a surgical diagnosis;6 this path may also potentially reduce diagnostic delay. Clinical assessments that may be used to diagnose endometriosis include, but are not limited to:6,25
- Symptoms: pelvic pain that is chronic, cyclic, and persistent or progressive; dysmenorrhea; non-menstrual pelvic pain; dyspareunia; dysuria
- Patient and family history: history of infertility; previous pelvic surgery; history of benign ovarian cysts and/or ovarian pain
- Menstrual cycle characteristics: heavy menstrual bleeding; excessive/irregular bleeding; passing clots; irregular menstrual periods
- Pelvic/physical examination: abdominal palpitation done slowly and with care, proceeding to bimanual pelvic examination; note anatomical location, palpitation of the uterine/bladder pouch, the Douglas pouch and adnexa can reveal painful sites; always note patient’s face during the examination as it will show areas of more intense pain
- Combination of assessments: combining number of symptoms with history of the patient and ultrasound findings
- Additional considerations: imaging; transvaginal ultrasound in conjunction with symptoms, patient history, and/or physical findings; ultrasound is particularly sensitive for detecting ovarian endometriomas as well as deep endometriosis
Detecting endometriosis through laparoscopy relies on the visualization of lesions, which are described as a “classic powder burn, red and clear lesion, ovarian disease, and thickening of the uterosacral ligament.”19 Unfortunately, visualization may be challenging due to a heterogeneous lesion appearance, lesion location that is inaccessible (e.g., deep), and interobserver variability.6 Furthermore, the positive predictive value of visualization via laparoscopy ranges from 43% to 45%.26,27
Clinical practice guidelines for the treatment of endometriosis and pain associated with endometriosis suggest that endometriosis is best viewed as a chronic medical disease requiring lifelong management through the optimal use of medical treatment and avoidance of repeated surgical procedures (e.g., laparoscopic ablation, excision, etc.). Thus, endometriosis is associated with significant morbidity. Persistent pelvic pain, especially in the presence of other symptoms associated with endometriosis, patient history, and results of a physical examination suggest endometriosis. Transvaginal ultrasound and laparoscopy may be beneficial when findings are unclear. And perhaps most importantly, an accurate and timely diagnosis of endometriosis leads to effective early treatment.
“I think the more you listen, the more the patient understands that you’re concerned. You may not completely eliminate the pain, but they understand you want to help them the best you can. Set realistic goals. When we work together with the patient, we can offer effective, compassionate care.
- Stephen M. Cohen, MD, FACOG
- Chapron C, Marcellin L, Borghese B, Santulli P. Rethinking mechanisms, diagnosis and management of endometriosis. Nat Rev Endocrinol. 2019;15(11):666-682.
- Taylor HS, Dun EC, Chwalisz K. Clinical evaluation of the oral gonadotropin-releasing hormone-antagonist elagolix for the management of endometriosis-associated pain. Pain Manag. 2019;9(5):497-515.
- Giudice LC. Clinical practice. Endometriosis. N Engl J Med. 2010;362(25):2389-2398.
- Bulun SE. Endometriosis. N Engl J Med. 2009;360(3):268-279.
- Burney RO, Giudice LC. Pathogenesis and pathophysiology of endometriosis. Fertil Steril. 2012;98(3):511-519.
- Agarwal SK, Chapron C, Giudice LC, et al. Clinical diagnosis of endometriosis: a call to action. Am J Obstet Gynecol. 2019;220(4):354.e1-354.e12.
- Slopien R, Meczekalski B. Aromatase inhibitors in the treatment of endometriosis. Prz Menopauzalny. 2016;15(1):43-47.
- Fuldeore MJ, Soliman AM. Prevalence and symptomatic burden of diagnosed endometriosis in the United States: national estimates from a cross-sectional survey of 59,411 women. Gynecol Obstet Invest. 2017;82(5):453-461.
- Fourquet J, Gao X, Zavala D, et al. Patients’ report on how endometriosis affects health, work, and daily life. Fertil Steril. 2010;93(7):2424-2428.
- Simoens S, Dunselman G, Dirksen C, et al. The burden of endometriosis: costs and quality of life of women with endometriosis and treated in referral centres. Hum Reprod. 2012;27(5):1292-1299.
- De Graff AA, D’Hooghe TM, Dunselman GA, et al. The significant effect of endometriosis on physical, mental and social wellbeing: results from an international cross-sectional survey. Hum Reprod. 2013;28(10):2677-2685.
- Ballweg ML. Impact of endometriosis on women’s health: comparative historical data show that earlier the onset, the more severe the disease. Best Pract Res Clin Obstet Gynaecol. 2004;18(2):201-218.
- Hudelist G, Fritzer N, Thomas A, et al. Diagnostic delay for endometriosis in Austria and Germany: causes and possible consequences. Hum Reprod. 2012;27(12):3412-3416.
- Unger CA, Laufer MR. Progression of endometriosis in non-medically managed adolescents: a case series. J Pediatr Adolesc Gynecol. 2011;24(2):e21-e23.
- Brosens I, Gordts S, Benagiano G. Endometriosis in adolescents is a hidden, progressive and severe disease that deserves attention, not just compassion. Hum Reprod. 2013;28(8):2026-2031.
- Coxon L, Horne AW, Vincent K. Pathophysiology of endometriosis-associated pain: a review of pelvic and central nervous system mechanisms. Best Pract Res Clin Obstet Gynaecol. 2018;51:53-67.
- Practice Committee of the American Society for Reproductive Medicine. Treatment of pelvic pain associated with endometriosis: a committee opinion. Fertil Steril. 2014;101(4):927-935
- Johnson NP, Hummelshoj L, Adamson GD, et al. World Endometriosis Society consensus on the classification of endometriosis. Hum Reprod. 2017;32(2):315-324.
- Cohen S, Singer AJ. EndoShare 2019: Personalizing Treatment Choices. Presented at Women’s Health 15th Anniversary Annual Visit. Presented October 11, 2019, New York, New York.
- Chung MK, Chung RP, Gordon D. Interstitial cystitis and endometriosis in patients with chronic pelvic pain: the “Evil Twins” syndrome. JSLS. 2005;9(1):25-29.
- Johnson NP, Hummelshoj L; World Endometriosis Society Montpellier Consortium. Consensus of current management of endometriosis. Hum Reprod. 2013;28(6):1552-1568.
- Dunselman GA, Vermeulen N, Becker C, et al; European Society of Human Reproduction and Embryology. ESHRE guideline: management of women with endometriosis. Hum Reprod. 2014;29(3):400-412.
- Hirsch M, Begum MR, Paniz E, Barker C, Davis CJ, Duffy JMN. Diagnosis and management of endometriosis: a systematic review of international and national guidelines. BJOG. 2018;125(5):556-564.
- Bourdel N, Alves J, Pickering G, Ramilo I, Roman H, Canis M. Systematic review of endometriosis pain assessment: how to choose a scale? Hum Reprod Update. 2015;21(1):136-152.
- Rolla E. Endometriosis: advances and controversies in classification, pathogenesis, diagnosis, and treatment. F1000Res. 20193;8(F1000 Faculty Rev)529.
- Walter AJ, Hentz JG, Magtibay PM, Cornella JL, Magrina JF. Endometriosis: correlation between histologic and visual findings at laparoscopy. Am J Obstet Gynecol. 2001;184(7):1407-1411; discussion 1411-1413.
- Stratton P, Winkel CA, Sinaii N, Merino MJ, Zimmer C, Nieman LK. Location, color, size, depth, and volume may predict endometriosis in lesions resected at surgery. Fertil Steril. 2002;78(4):743-749.