Recent data suggests that there are about 4 million American women diagnosed with endometriosis, but that 6/10 are not diagnosed. Currently, using the gold standard for diagnosis there are potentially 6 million American woman that may experience the sequelae of endometriosis without having appropriate management or understanding the cause of their symptoms.
The gold standard for endometriosis is laparoscopy either with or without histologic verification of endometrial tissue outside of the uterus. However, there is a poor correlation between disease severity and symptoms. The Agarwal et al study suggests a shift to focus on the patient rather than the lesion and that endometriosis may better be defined as “menstrual cycle dependent, chronic, inflammatory, systemic disease that commonly presents as pelvic pain”. There is often a long delay in symptom appreciation and diagnosis that can range from 4-11 years. The side effects of this delay are to the detriment of the patient; persistent symptoms and effect of quality of life, development of central sensitization, negative effects on patient-physician relationship. If this disease continues to go untreated it may affect fertility and contribute to persistent pelvic pain.
The authors suggest a clinical diagnosis with transvaginal ultrasound for patients presenting with persistent or cyclic pelvic pain, patient history, have symptoms consistent with endometriosis, or other findings suggestive of endometriosis. The intention of using transvaginal ultrasound is to make diagnosis more accessible and limit under diagnosis. It is not intended to minimize laparoscopy as a diagnostic tool or treatment option.
The algorithm for a clinical diagnosis evaluates patient presentation of the following:
- Symptoms including persistent or cyclic pelvic pain, dysmenorrhea or painful menstruation cramps, deep dyspareunia or pain with deep vaginal penetration, cyclic dyschezia or straining for soft stools, cyclic dysuria or pain with urination, cyclic catamenial symptoms located in other systems such as acne or vomiting.
- Assessment of patient history including infertility, current chronic pelvic pain, or painful periods as an adolescent, previous laparoscopy with diagnosis, painful periods that are not responsive to NSAIDS, and a family history.
- Physical exam physicians assess for nodules in cul de sac, retroverted uterus, mass consistent with endometriosis, visible or obvious external endometrioma. Imaging should be ordered or performed.
- Clinical signs would consist of endometrioma with US, presence of soft markers (sliding sign) this is where the fundus of the uterus is compared to its neighboring structures and can indicate the immobility of those structures, and nodules or masses.
Of course, there are differential diagnosis for endometriosis, and those are symptoms of non-cyclical patterns of pain and bladder/bowel dysfunction that would indicate IBS, UTI, IC/PBS. A history of post-operative nerve entrapment of adhesions. Examination positive for pelvic floor spasm, severe allodynia in vulva and pelvic floor, masses such as fibroids. It is important to note that these other diagnoses can coexist with endometriosis and do not rule out possible endometriosis diagnosis.
Hopefully, diagnosing individuals earlier and possibly at a younger age would limit the disease severity and symptoms. This would allow this population to limit the possibility of central sensitization and pain persistence that can affect so much of daily life. Earlier diagnosis may affect infertility and allow this population to make informed decisions about family and career from a place of empowerment.
Agarwal SK, Chapron C, Giudice LC, Laufer MR, Leyland N, Missmer SA,Singh SS, Taylor HS, "Clinical diagnosis of endometriosis: a call to action", American Journal of Obstetrics and Gynecology (2019), doi: https://doi.org/10.1016/j.ajog.2018.12.039.