Endometriosis: Clinical sciences

Endometriosis is when endometrial stroma or glands are found outside of the endometrium. Normally, endometrial cells are only present within the endometrial lining of the uterine cavity, which thickens and sheds during each menstrual cycle. The exact cause of endometriosis is complex but there are three theories.

First, it’s believed to be due in part to retrograde menstruation leading to attachment of endometrial glands and stroma to the peritoneum. Second, distant lesions might be established by the hematogenous or lymphogenous route. And third, the theory of coelomic metaplasia says that cells of the visceral and parietal peritoneum undergo metaplastic change into endometriotic lesions. Endometriosis is commonly diagnosed in reproductive-age biological women, specifically those with a history of chronic pain and infertility.

Let’s dive into the steps to take when a patient presents with a chief concern suggesting endometriosis. The initial approach involves obtaining a focused history and physical exam as well as a pelvic ultrasound. Patients might report chronic pelvic pain; dysmenorrhea, meaning painful periods; menorrhagia, or heavy menstrual bleeding; as well as deep dyspareunia, or painful intercourse; low back pain during periods, and bowel and bladder symptoms like diarrhea and dysuria. An easy way to remember common symptoms of endometriosis is to think of the 4 Ds: dysmenorrhea, dyspareunia, dyschezia, and dysuria.

Other common historical findings include infertility and a family history of endometriosis. In fact, patients with an affected first-degree relative have nearly a 7 to 10 times increased risk of developing endometriosis themselves! Additionally, risk factors for developing endometriosis include early menarche specifically occurring before age 11; shorter cycles, commonly less than 27 days; and heavy, prolonged periods.

Here’s a clinical pearl! Be sure to rule out sexually transmitted infections like gonorrhea or chlamydia, which can be associated with chronic pelvic pain due to chronic pelvic inflammatory disease.

When it comes to the physical exam, findings suggesting endometriosis include abdominal or pelvic tenderness, uterosacral ligament nodularity, and occasionally, palpation of an adnexal mass.

Here’s another clinical pearl! The uterosacral ligaments are thick, supportive bands of fibrous tissue that connect the uterus to the sacrum. When endometrial tissue grows and implants here, it can form nodules or lumps which may be palpated on physical examination. These findings are associated with deep infiltrating endometriosis.

Alright, back to diagnosis. Ultrasound may help support your suspicion for endometriosis and will also help rule out other causes of chronic pelvic pain or infertility. Characteristic findings include a pelvic or adnexal mass, such as an ovarian endometrioma or deep infiltrating endometriosis. Endometriomas appear as cysts that contain low-level, homogeneous internal echoes consistent with old blood. Keep in mind that in some cases, ultrasound may not reveal any overt physical abnormalities. In fact, in the vast majority of times, the ultrasound will be normal. This does not rule out the possibility of endometriosis. Ultrasound is used only to identify other potential causes of pelvic pain, there is not one specific ultrasound finding required for the diagnosis.

Now, if the patient has a positive history and physical exam, plus or minus the characteristic imaging findings, you should suspect endometriosis!

Here’s a clinical pearl! Most diagnoses of endometriosis are made on clinical findings including history, physical exam, and possibly ultrasound.

A definitive diagnosis of endometriosis can be made by performing a laparoscopy, biopsying suspicious lesions, and confirming the presence of endometrial glands and stroma histologically. That being said, laparoscopy is reserved for cases where the presenting complaint is infertility, or in cases of failed medical management. In fact, treatment should not be delayed to perform surgery and you can still treat your patient as having endometriosis without an official biopsy.

Alright, now that we have diagnosed endometriosis, let’s discuss treatment. Your approach to management is tailored to the patient’s individual goals, so start by assessing their desire for pregnancy. If your patient wants to become pregnant immediately, start by prioritizing their pain and provide analgesia with NSAIDs. Additionally, pelvic floor physical therapy can be considered, which can aid in treating pelvic floor dysfunction, as well as strengthening the pelvic muscles. Also, consider an infertility workup to assess and treat factors affecting the patient’s ability to conceive. Finally, consider performing a laparoscopy, which will ensure the correct diagnosis through biopsy and allow for excision of any suspected endometriosis.