What is the diagnostic workup for endometriosis?

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Last updated: March 24, 2025View editorial policy

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From the Guidelines

The diagnostic workup for endometriosis should begin with a thorough medical history and physical examination, followed by transvaginal ultrasound (TVUS) as the first imaging study to evaluate pelvic structures and identify endometriomas, as it has been shown to be an accurate study for the evaluation of ovarian endometriomas 1. The TVUS should be performed using an expanded protocol that includes evaluation of additional anatomic landmarks and scanning maneuvers, such as the uterosacral ligaments, anterior rectosigmoid wall, appendix, and diaphragm, as well as dynamic sliding maneuvers to evaluate organ mobility 1. This approach has been shown to have excellent performance for detection of deep endometriosis (DE) and can be used to preoperatively map lesions for surgical planning and to predict surgical difficulty 1. In complex cases, MRI may be used for better soft tissue visualization, particularly for assessing deep infiltrating endometriosis, intestinal endometriosis, and bladder wall endometriosis 1. Definitive diagnosis still requires laparoscopy with histological confirmation, which serves as both diagnostic and therapeutic by allowing visualization and removal of endometriotic lesions. Before invasive procedures, empiric treatment with hormonal therapy can be initiated for symptom management, and if symptoms improve with hormonal suppression, this provides supportive evidence for endometriosis. The diagnostic approach should be individualized based on symptom severity, fertility desires, and patient preferences. Some key points to consider in the diagnostic workup include:

  • The use of TVUS with expanded protocols to improve detection of DE
  • The role of MRI in complex cases for better soft tissue visualization
  • The importance of laparoscopy with histological confirmation for definitive diagnosis
  • The use of empiric treatment with hormonal therapy for symptom management
  • The individualization of the diagnostic approach based on patient-specific factors. It is also important to note that laboratory tests, including CA-125, may be elevated but lack specificity for diagnosis, and pain diaries documenting symptom patterns and response to treatments are valuable for assessment 1.

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From the Research

Diagnostic Workup for Endometriosis

The diagnostic workup for endometriosis involves several steps and modalities, including:

  • Physical examination, which should include a speculum examination and vaginal palpation to evaluate mobility, fixation, and/or tenderness of the uterus and site-specific tenderness in the pelvis 2
  • Pelvic ultrasound, specifically transvaginal ultrasound (TVUS), which is recommended as the first-line imaging modality for the diagnosis and assessment of endometriosis due to its satisfactory overall diagnostic accuracy, wide availability, and low cost 3
  • Magnetic Resonance Imaging (MRI), which is useful for evaluating the extent of endometriosis and determining whether any urinary tract or bowel procedures might be required during surgical resection 2

Imaging Modalities

The following imaging modalities can be used to diagnose endometriosis:

  • Transvaginal ultrasound (TVUS), which is non-inferior to MRI in the diagnosis and assessment of deep infiltrating endometriosis (DIE) when performed by appropriately trained clinicians 3
  • MRI, which is commonly utilized to achieve a better anatomical overview of the entire pelvic organs and is best for diagnosing torus, uterosacral ligaments, intestine, and bladder endometriosis lesions 4
  • Transrectal ultrasound (TRUS), which has a high sensitivity and specificity for diagnosing deep infiltrating endometriosis 5

Diagnostic Accuracy

The diagnostic accuracy of different modalities for deep infiltrating endometriosis is as follows:

  • Physical examination: pooled sensitivity of 71% and specificity of 69% 5
  • TVUS: pooled sensitivity of 76% and specificity of 94% 5
  • TRUS: pooled sensitivity of 91% and specificity of 80% 5
  • MRI: pooled sensitivity of 82% and specificity of 87% 5

Evaluation and Management

The evaluation and management of endometriosis should include:

  • Assessment of quality of life using the Endometriosis Health Profile-30, its short version EHP-5, or the generic quality of life questionnaire SF-36 2
  • Management of endometriosis when it has a functional impact (pain, infertility) or causes organ dysfunction 2

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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