From the Guidelines
Currently, there are no specific laboratory tests recommended for the routine evaluation of endometriosis, and diagnosis primarily relies on clinical symptoms, physical examination, imaging studies, and surgical visualization with histological confirmation. The evaluation of endometriosis involves a combination of clinical assessment, imaging, and surgical diagnosis. According to the most recent evidence 1, imaging studies such as transvaginal ultrasound and MRI are crucial in the diagnosis and characterization of endometriosis.
Key Points in Evaluation
- Clinical symptoms and physical examination are essential in suspecting endometriosis.
- Imaging studies, particularly transvaginal ultrasound and MRI, are vital for the diagnosis and characterization of endometriosis.
- Surgical visualization with histological confirmation remains the gold standard for diagnosis.
- Laboratory tests may be useful in ruling out other conditions or evaluating complications but are not specific for diagnosing endometriosis.
Role of Laboratory Tests
While some biomarkers like CA-125 have been investigated, they lack sufficient sensitivity and specificity for clinical use 1. CA-125 may be elevated in some women with endometriosis but can also be elevated in other conditions, making it non-specific. Research is ongoing to develop non-invasive diagnostic tests, but currently, there are no laboratory tests that can definitively diagnose endometriosis.
Imaging Recommendations
The American College of Radiology (ACR) suggests that US pelvis transabdominal and US pelvis transvaginal or MRI pelvis without and with IV contrast are usually appropriate as the initial imaging for clinically suspected pelvic endometriosis in an adult patient 1. For characterization or treatment planning after an indeterminate or negative US, MRI pelvis without and with IV contrast is recommended.
Conclusion Not Applicable
As per the guidelines, the focus is on providing a direct answer based on the most recent and highest quality evidence, without a need for a conclusion section. The emphasis is on prioritizing morbidity, mortality, and quality of life as the outcome, and the answer reflects this by focusing on the diagnostic approaches that best support patient care and management of endometriosis, as indicated by the latest research 1.
From the Research
Laboratory Tests for Endometriosis
- The most commonly used laboratory marker for endometriosis is serum CA-125, however, it is usually elevated only in advanced stages and therefore not suitable for routine screening 2, 3.
- Other markers that have been studied include serum interleukin (IL)-6 and peritoneal fluid tumor necrosis factor (TNF)-alpha levels, which have shown promising diagnostic accuracy 3.
- The diagnostic accuracy of other markers, such as secretory proteins, cell adhesion molecules, cytokines, and hormone receptors, is either similar or worse than that of CA-125 3.
Imaging Techniques
- Transvaginal ultrasound and magnetic resonance imaging are often helpful in detecting endometriotic cysts and deep infiltrating lesions, particularly in the rectovaginal septum 2, 4, 5.
- Transrectal ultrasound and magnetic resonance imaging can also be valuable in detecting deep infiltrating lesions 2.
Diagnostic Evaluation
- The initial diagnostic investigations for endometriosis include physical examination, pelvic ultrasound, and assessment of quality of life using questionnaires such as the Endometriosis Health Profile-30 or the SF-36 5.
- Laparoscopy with biopsy remains the definitive method for diagnosis, although empiric therapy without immediate surgical diagnosis may be recommended by some gynecologic organizations 4.