From the Guidelines
Endometriosis diagnosis should be approached through a combination of clinical evaluation, imaging, and surgical confirmation, with laparoscopy with biopsy being the gold standard for diagnosis, as it allows direct visualization and histological confirmation of endometrial tissue outside the uterus 1.
Diagnosis Approach
The diagnosis of endometriosis is challenging due to variable presenting symptoms and nonspecific physical examination findings.
- A thorough medical history focusing on symptoms like pelvic pain, painful periods, pain during intercourse, and infertility is essential.
- Physical examination may reveal tender nodules in the pelvis or limited organ mobility.
- Transvaginal ultrasound can identify endometriomas (chocolate cysts) and deep infiltrating endometriosis, while MRI provides more detailed imaging for complex cases.
- Blood tests for CA-125 may be elevated but aren't specific enough for diagnosis alone.
Imaging Techniques
- Expanded protocol transvaginal ultrasound (TVUS) studies have been developed to identify and “map” deep endometriosis, and are associated with a higher sensitivity compared to routine pelvic US 1.
- MRI protocol tailored for detection of deep endometriosis, with moderate bladder distention and vaginal contrast, can help improve lesion conspicuity involving these structures 1.
Definitive Diagnosis
- Definitive diagnosis still requires surgical visualization and histological confirmation of endometrial glands and stroma outside the uterus.
- Empiric treatment with hormonal medications like combined oral contraceptives or GnRH agonists may be tried before surgery, and improvement of symptoms with these treatments can support the diagnosis 1.
From the Research
Diagnosis of Endometriosis
- Endometriosis is a chronic benign disease that affects women of reproductive age 2
- The diagnosis of endometriosis can be done through non-invasive imaging, such as ultrasound and MRI 3, 4
- Transvaginal ultrasound (TVUS) can detect deep endometriosis, adenomyosis, and endometriomas, but may not reliably detect superficial endometriosis 4
- MRI can better depict pelvic-wall and extraperitoneal disease than ultrasound, while ultrasound has better accuracy for identifying the depth of wall invasion in bowel-wall disease 3
Imaging Techniques
- Ultrasound and MRI are both used to detect endometriosis, with similar overall weighted means of diagnostic statistics 3
- Dedicated US and MRI protocols performed better than routine protocols, which may account for delays in diagnoses 3
- The choice of imaging technique should be based on the expertise in the region 3
Diagnostic Challenges
- Endometriosis can be challenging to diagnose, with a delay in diagnosis being common 4
- A negative ultrasound with persistence of symptoms despite medical therapy may require laparoscopy for diagnosis and treatment 4
- There is a need for improving the sensitivity of routine imaging for diagnosing deep endometriosis to improve patient access to appropriate care 3