Patients can present with a variety of symptoms, with the most common including dysmenorrhea, menorrhagia, deep dyspareunia, dyschezia, bloating, dysuria, chronic pelvic pain, and infertility. Symptoms do not always correlate with disease severity; patients can be asymptomatic despite having severe endometriosis.2,4 However, symptoms can provide clues to help locate the endometriotic lesions.

For example, endometriosis on the rectum or bowels can cause dyschezia and bloating, whereas endometriosis in the posterior cul-de-sac causes dyspareunia.2 Misdiagnosis is very common because symptoms overlap with other pain-related syndromes and gastrointestinal disorders such as irritable bowel syndrome and interstitial cystitis. Because of this, the average length of time between initial symptom presentation and the diagnosis of endometriosis is 7 years.3,4

Definitive diagnosis only can be attained with laparoscopic visualization and biopsy of the endometriotic lesions. The lesions classically have a blue-black or “powder-burned” appearance with endometrial glands, stroma, and hemosiderinladen macrophages revealed on histology.2,3


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Endometriosis is also staged based on operative findings. The best-known classification system is the revised American Society for Reproductive Medicine scoring system, which classifies endometriosis based on lesion location and depth of penetration, degree of cul-de-sac involvement, and presence of endometriomas (benign cysts associated with endometriosis) and pelvic adhesions (Table 2).5 Disease extent ranges from minimal (stage I) to severe (stage IV).1,3,6 The current system has been criticized because of the poor correlation with symptoms and predictive prognosis.7

Although definitive diagnosis requires surgery, a presumptive diagnosis can be made from patient history, examination, and imaging. The hallmark finding on examination of a patient with endometriosis is tender, nodular thickening along the uterosacral ligaments and posterior cul-de-sac and a fixed, retroverted uterus. However, examination usually reveals nonspecific findings.2,3

Imaging is useful in both ruling out other causes of pelvic pain and in the preoperative assessment of the extent of disease. TVUS, the first-line imaging modality used in this setting, can detect endometriosis in the posterior cul-de-sac, bladder, and rectosigmoid area. Lesions appear as irregular thickening or hypoechoic nodules, and there may be free fluid in the cul-de-sac.3,8

TVUS also has the highest sensitivity and specificity in identifying ovarian endometriomas. These cysts commonly are referred to as “chocolate cysts” because they contain a thick, brown, bloody fluid. They tend to form dense adhesions on the peritoneal wall, bowels, and other surrounding structures. On TVUS, endometriomas classically appear as unilocular cysts, with homogeneous ground-glass echogenicity of the cystic fluid and poor vascular flow.3

There is no cure for endometriosis. The goal of treatment is to suppress pain. Medical therapies generally are offered first and include nonsteroidal anti-inflammatory drugs (NSAIDs) and combined oral contraceptive pills, progestins, danazol, or gonadotropin-releasing hormone analogs.3,4 These medications are intended to control pain by reducing inflammation, suppressing ovarian hormone production, and reducing menstruation.4

Operative laparoscopy is reserved for patients who do not respond to medical treatment or for those with endometriomas or infertility secondary to endometriosis. However, symptoms usually recur at a rate of 44% within 5 years after surgery.3 Therefore, it is recommended that patients begin hormone suppression postoperatively, if tolerable, to help prevent the recurrence of symptoms.4

Conclusion

In the primary care setting, the diagnosis of endometriosis is clinical, based on the patient’s history and physical examination findings. Although physical examination findings may be nonspecific, the presence of tenderness or nodular thickening along the uterosacral ligaments and posterior cul-de-sac or a fixed, retroverted uterus should prompt the diagnosis of endometriosis.

Medical therapy should be offered for symptomatic relief. According to the American Academy of Family Physicians, therapy should begin with NSAIDs, which can be followed by hormonal therapy if needed. If the patient fails medical therapy — or if the patient desires pregnancy — referral to a gynecologist for further evaluation is warranted.9

Patient education should also focus on therapy being suppressive, not curative.3,4 Discontinuation of medications and surgical intervention both carry the risk of symptom recurrence.1 If the providers treating the patient in this case had considered endometriosis as the root of her complaints, she may have received intervention much sooner.

Cristina Baldassarri, MPA, PA-C, is a physician assistant; E. Rachel Fink, MPA, PA-C, is a physician assistant at Augusta Urology Associates and an assistant professor in the Physician Assistant Program at Augusta University.

References

1. Vercellini P, Viganò P, Somigliana E, Fedele L. Endometriosis: pathogenesis and treatment. Nat Rev Endocrinol. 2014;10(5):261-275.

2. Davila GW, Kapoor D, Alderman E, et al. Endometriosis. Medscape. https://emedicine.medscape.com/article/271899-overview. Updated July 25, 2018. Accessed October 31, 2020.

3. Falcone T, Flyckt R. Clinical management of endometriosis. Obstet Gynecol. 2018;131(3):557-571.

4. Nezhat C, Vang N, Tanaka PP, Nezhat C. Optimal management of endometriosis and pain. Obstet Gynecol. 2019;134(4):834-839.

5. American Society for Reproductive Medicine. Revised American Society for Reproductive Medicine classification of endometriosis: 1996. Fertil Steril. 1997;67(5):817-821.

6. Schenken RS. Endometriosis: pathogenesis, clinical features, and diagnosis. UpToDate. https://www.uptodate.com/contents/endometriosis-pathogenesis-clinical-features-and-diagnosishttps://www.uptodate.com/contents/endometriosispathogenesis-clinical-features-and-diagnosis.%20 Updated June 1, 2020. Accessed October 31, 2020.

7. Johnson NP, Hummelshoj L, Adamson GD, et al. World Endometriosis Society consensus on the classification of endometriosisHum Reprod. 2017;32(2):315-324.

8. Hudelist G, Ballard K, English J, et al. Transvaginal sonography vs. clinical examination in the preoperative diagnosis of deep infiltrating endometriosis. Ultrasound Obstet Gynecol. 2011;37(4): 480-487.

9. Schrager S, Falleroni J, Edgoose J. Evaluation and treatment of endometriosis. Am Fam Physician. 2013;87(2):107-113.