From the Guidelines
The diagnosis of endometriosis is typically made based on a combination of clinical symptoms, physical examination, and imaging studies, with laparoscopic surgery with biopsy being the definitive diagnostic method. Initial evaluation should include:
- Detailed medical history focusing on pelvic pain, dysmenorrhea, and infertility
- Physical examination, including pelvic exam
- Transvaginal ultrasound to identify endometriomas or deep infiltrating endometriosis, as expanded protocol transvaginal ultrasound (TVUS) studies have been developed to identify and “map” deep endometriosis 1 If endometriosis is suspected based on these findings, empiric treatment may be initiated:
- First-line: Combined oral contraceptives continuously or NSAIDs for pain management
- Second-line: Progestins or GnRH agonists If symptoms persist or a definitive diagnosis is needed, laparoscopy with biopsy should be performed, as it allows direct visualization of endometrial implants and histological confirmation 1. MRI may be useful in select cases to evaluate the extent of deep infiltrating endometriosis before surgery, with a tailored protocol for detection of deep endometriosis, including moderate bladder distention and vaginal contrast 1. The World Endometriosis Society consensus on the classification of endometriosis highlights the importance of classification in informing treatment and prognosis, but notes that current classification systems have limitations, including poor correlation with disease symptoms and lack of predictive prognosis 1. Understanding that endometriosis involves the growth of endometrial-like tissue outside the uterus helps explain the diverse symptoms and the need for visual confirmation through laparoscopy for definitive diagnosis. The use of imaging before surgery is supported by the literature, as it helps inform patient decision making, is important for surgical planning, and impacts management 1. It is essential to prioritize the patient's individualized goals and consider the variable presenting symptoms and nonspecific physical examination findings when making a diagnosis of endometriosis 1.
From the Research
Diagnostic Criteria for Endometriosis
The diagnostic criteria for endometriosis involve a combination of clinical evaluation, laboratory tests, imaging techniques, and surgical staging. The following are some of the key diagnostic criteria:
- Clinical presentations: dysmenorrhea, pelvic pain, dyspareunia, infertility, and pelvic mass 2
- Laboratory markers: serum CA-125, although it is usually elevated only in advanced stages 2
- Imaging techniques: transvaginal ultrasound, magnetic resonance imaging, and transrectal ultrasound 2, 3, 4
- Surgical staging: laparoscopy, which is considered the "gold standard" for diagnosing endometriosis, although the correlation between laparoscopic observations and histological findings can be low 2, 4, 5
- Physical examination: speculum examination, vaginal palpation, and evaluation of mobility, fixation, and tenderness of the uterus and pelvis 3
- Quality of life assessment: using tools such as the Endometriosis Health Profile-30, EHP-5, or SF-36 3
Diagnostic Approaches
Different diagnostic approaches can be used to diagnose endometriosis, including:
- Symptom-based diagnosis: using symptoms such as pelvic pain, dysmenorrhea, and dyspareunia to diagnose endometriosis 6
- Sign-based diagnosis: using physical examination findings such as tenderness and fixation of the uterus and pelvis to diagnose endometriosis 6
- Risk factor-based diagnosis: using risk factors such as family history and previous surgeries to diagnose endometriosis 6
- Imaging-based diagnosis: using imaging techniques such as transvaginal ultrasound and magnetic resonance imaging to diagnose endometriosis 3, 4
- Surgical-based diagnosis: using laparoscopy and histological examination of excised lesions to diagnose endometriosis 2, 4, 5
Challenges in Diagnosing Endometriosis
Diagnosing endometriosis can be challenging due to: