Endometriosis differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Joseph Nasr, M.D.[2] Aravind Kuchkuntla, M.B.B.S[3]

Overview

Endometriosis commonly presents with dysmenorrhea, nonmenstrual pelvic pain, and deep dyspareunia. It must be differentiated from other gynecologic and nongynecologic conditions that present with pelvic pain, dyspareunia, dysmenorrhea, or abnormal uterine bleeding.

Importantly:

  • Pain severity does not reliably correlate with lesion burden, number, or subtype (except deep posterior cul-de-sac disease, which correlates with dyspareunia).[1][2]
  • Normal imaging does not exclude endometriosis
  • Response to hormonal therapy does not confirm the diagnosis

Differential Diagnosis

Endometriosis may present with:

  • Dysmenorrhea
  • Deep dyspareunia
  • Chronic pelvic pain
  • Infertility
  • Dyschezia
  • Dysuria
  • Abnormal uterine bleeding

Differential diagnosis should consider both gynecologic and nongynecologic causes.

Differentiating Endometriosis from Other Gynecological Conditions:

Clinical Features Physical Examination Diagnostic Findings

Endometriosis
  • Nodularity in posterior fornix
  • Adnexal masses (endometrioma)
  • Fixed retroverted uterus
  • Decreased uterine mobility
  • Tenderness of posterior cul-de-sac
  • Lateral displacement of cervix
  • Transvaginal ultrasound has high sensitivity for ovarian endometriomas, moderate sensitivity for deep infiltrating disease, and low sensitivity for superficial peritoneal lesions.[3]
  • Magnetic resonance imaging improves detection of deep and ovarian disease.[4]
  • CA-125 may be elevated but is nonspecific.  
  • Absence of imaging findings does not exclude endometriosis.  
  • Laparoscopic visualization with histologic confirmation is diagnostic.
  • Features Suggesting Deep Infiltrating Endometriosis: • Cyclic hematochezia   • Hematuria during menses   • Severe dyschezia   • Bowel obstruction   • Hydroureter   These findings should raise suspicion for deep endometriosis.[5][6]

Adenomyosis[7]
  • Heavy menstrual bleeding
  • Dysmenorrhea
  • Common in women 40–50 years
  • Diffusely enlarged, tender uterus

Submucous uterine leiomyomas[8]
  • Menorrhagia
  • Pelvic pressure
  • Infertility
  • Peak age 25–44
  • Enlarged irregular mobile uterus
  • Transvaginal ultrasound shows myomas

Pelvic inflammatory disease[9]
  • History of sexually transmitted infection
  • Multiple sexual partners
  • Fever
  • Acute pelvic pain
  • Cervical motion tenderness
  • Uterine/adnexal tenderness
  • Purulent discharge

Pelvic congestion syndrome[10]
  • Chronic pelvic heaviness
  • Deep dyspareunia
  • Post-coital pain
  • Pain worse after prolonged standing
  • Pain worse at the end of the day

Nongynecologic Conditions With Overlapping Symptoms

These conditions frequently mimic endometriosis:

Clinical Features

Irritable Bowel Syndrome
  • Altered bowel frequency
  • Abdominal pain
  • Symptoms may worsen during menses

Bladder Pain Syndrome / Interstitial Cystitis
  • Urinary urgency
  • Frequency
  • Nocturia
  • Normal urinalysis

Pelvic Floor Myofascial Pain
  • Pain worsened by activity
  • Pelvic floor muscle tenderness
  • Trigger points on examination

Differentiating Endometriosis on the Basis of Acute Lower Abdominal Pain

In young women presenting with acute severe lower abdominal pain, the following conditions should be considered:

Disease Findings

Ectopic pregnancy[11]
  • Missed menses
  • Positive pregnancy test
  • Ultrasound shows empty uterus ± adnexal mass

Appendicitis[12]
  • Right lower quadrant pain
  • Nausea/vomiting
  • Ultrasound sensitivity 75–90%

Rupturedovarian cyst[13]
  • Sudden onset pain
  • May follow trauma
  • Ultrasound diagnostic

Ovarian cyst torsion[14]
  • Acute unilateral lower quadrant pain
  • Nausea/vomiting
  • Tender adnexal mass
  • Ultrasound diagnostic

Hemorrhagic ovarian cyst[14]
  • Localized abdominal pain
  • Nausea/vomiting
  • Possible hypovolemia
  • Ultrasound diagnostic

Acute cystitis[15][16]
  • Urinary frequency
  • Urgency
  • Dysuria
  • Suprapubic pain

Endometriosis[14]
  • Cyclic pelvic pain
  • Worsening during menses
  • Deep dyspareunia
  • Laparoscopic visualization confirms diagnosis

References

  1. ↑ Pashkunova D, Darici E, Senft B, et al. Lesion size and location in deep infiltrating bowel endometriosis: correlation with gastrointestinal dysfunction and pain. Acta Obstet Gynecol Scand.2024;103(9):1764-1770. doi:10.1111/aogs.14921
  2. ↑ Vercellini P, Fedele L, Aimi G, Pietropaolo G, Consonni D, Crosignani PG. Association between endometriosis stage, lesion type, patient characteristics and severity of pelvic pain symptoms: a multivariate analysis of over 1000 patients. Hum Reprod. 2007;22(1):266-271. doi:10.1093/humrep/del339
  3. ↑ Nisenblat V, Bossuyt PM, Farquhar C, Johnson N, Hull ML. Imaging modalities for the non-invasive diagnosis of endometriosis. Cochrane Database Syst Rev. 2016;2(2):CD009591. doi:10.1002/14651858.CD009591.pub2
  4. ↑ Avery JC, Knox S, Deslandes A, et al; Imagendo Study Group. Noninvasive diagnostic imaging for endometriosis, 2: a systematic review of recent developments in magnetic resonance imaging, nuclear medicine and computed tomography. Fertil Steril. 2024;121(2):189-211. doi:10.1016/j.fertnstert.2023.12.017
  5. ↑ Mușat F, Păduraru DN, Bolocan A, Constantinescu A, Ion D, Andronic O. Endometriosis as an uncommon cause of intestinal obstruction—a comprehensive literature review. J Clin Med.2023;12(19):6376. doi:10.3390/jcm12196376
  6. ↑ Leone Roberti Maggiore U, Ferrero S, Candiani M, Somigliana E, Viganò P, Vercellini P. Bladder endometriosis: a systematic review of pathogenesis, diagnosis, treatment, impact on fertility, and risk of malignant transformation. EurUrol. 2017;71(5):790-807. doi:10.1016/j.eururo.2016.12.015
  7. ↑ Parker JD, Leondires M, Sinaii N, Premkumar A, Nieman LK, Stratton P (2006). "Persistence of dysmenorrhea and nonmenstrual pain after optimal endometriosis surgery may indicate adenomyosis". Fertil Steril. 86 (3): 711–5. doi:10.1016/j.fertnstert.2006.01.030. PMID 16782099.
  8. ↑ Donnez J, Donnez O, Matule D, Ahrendt HJ, Hudecek R, Zatik J; et al. (2016). "Long-term medical management of uterine fibroids with ulipristal acetate". Fertil Steril. 105 (1): 165–173.e4. doi:10.1016/j.fertnstert.2015.09.032. PMID 26477496.
  9. ↑ Ross J, Judlin P, Jensen J, International Union against sexually transmitted infections (2014). "2012 European guideline for the management of pelvic inflammatory disease". Int J STD AIDS. 25 (1): 1–7. doi:10.1177/0956462413498714. PMID 24216035.
  10. ↑ Rozenblit AM, Ricci ZJ, Tuvia J, Amis ES (2001). "Incompetent and dilated ovarian veins: a common CT finding in asymptomatic parous women". AJR Am J Roentgenol. 176 (1): 119–22. doi:10.2214/ajr.176.1.1760119. PMID 11133549.
  11. ↑ Morin L, Cargill YM, Glanc P (2016). "Ultrasound Evaluation of First Trimester Complications of Pregnancy". J Obstet Gynaecol Can. 38 (10): 982–988. doi:10.1016/j.jogc.2016.06.001. PMID 27720100.
  12. ↑ Balthazar EJ, Birnbaum BA, Yee J, Megibow AJ, Roshkow J, Gray C (1994). "Acute appendicitis: CT and US correlation in 100 patients". Radiology. 190 (1): 31–5. doi:10.1148/radiology.190.1.8259423. PMID 8259423.
  13. ↑ Bottomley C, Bourne T (2009). "Diagnosis and management of ovarian cyst accidents". Best Pract Res Clin Obstet Gynaecol. 23 (5): 711–24. doi:10.1016/j.bpobgyn.2009.02.001. PMID 19299205.
  14. ↑ 14.0 14.1 14.2 Bhavsar AK, Gelner EJ, Shorma T (2016). "Common Questions About the Evaluation of Acute Pelvic Pain". Am Fam Physician. 93 (1): 41–8. PMID 26760839.
  15. ↑ {{Cite journal | author = W. E. Stamm | title = Etiology and management of the acute urethral syndrome | journal = Sexually transmitted diseases | volume = 8 | issue = 3 | pages = 235–238 | year = 1981 | month = July-September | pmid = 7292216
  16. ↑ {{Cite journal | author = W. E. Stamm, K. F. Wagner, R. Amsel, E. R. Alexander, M. Turck, G. W. Counts & K. K. Holmes | title = Causes of the acute urethral syndrome in women | journal = The New England journal of medicine | volume = 303 | issue = 8 | pages = 409–415 | year = 1980 | month = August | doi = 10.1056/NEJM198008213030801 | pmid = 6993946
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