Clinical Review

Endometriosis: Expert Answers to 7 Crucial Questions on Diagnosis

The notorious delay in diagnosis associated with this condition stems in part from its ability to mimic other diseases. The expert answers provided here are designed to help guide your assessment of the patient and achieve a timelier diagnosis.

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• The “why” of endometriosis
• Environmental factors, estrogen, and endometriosis
• Is imaging useful?
• When is diagnostic laparoscopy clearly indicated?

CASE M.L. is a 32-year-old nulliparous woman who is referred to your office by her primary care provider for chronic pelvic pain. She reports severe dysmenorrhea as her main symptom, but she also mentions dyspareunia. She says these symptoms have been present for several years but have increased in intensity gradually. She asks what you consider to be the most likely diagnosis.

What potential diagnoses do you mention to her? And how do you identify the cause of her pain?

Although endometriosis—the presence of endometrial tissue outside the uterus—affects at least 5 million women of reproductive age in the United States alone, it can be a challenging diagnosis for several reasons.

“Endometriosis is a great masquerader,” says Linda Giudice, MD, PhD. “It presents with a variety of pain patterns, intensities, and triggers. It can also involve symptoms that overlap those of other disorders, including disorders of the gastrointestinal and urinary tracts.”

Although endometriosis falls within the differential diagnosis of chronic pelvic pain, “it is usually not high on the list in the primary care setting (adult and adolescent),” adds Dr. Giudice.

John R. Lue, MD, MPH, an author of the most recent practice bulletin on endometriosis from the American College of Obstetricians and Gynecologists,1 sees the situation similarly.

“The main challenge in the diagnosis of endometriosis is that its presentation mimics other causes of chronic pelvic pain,” he says. “Pelvic pain due to endometriosis is usually chronic (lasting ≥ 6 months). It is associated with dysmenorrhea in 50% to 90% of cases, as well as with dyspareunia, deep pelvic pain, and lower abdominal pain with or without back and loin pain. The pain can occur unpredictably and intermittently throughout the menstrual cycle or it can be continuous. In addition, it can be dull, throbbing, or sharp and may be exacerbated by physical activity.2,3 Up to 20% of women with endometriosis have concurrent pain conditions.”4

Endometriosis image There are three types of endometriosis lesions—endometriomas, which affect the ovary; superficial lesions; and deep infiltrating endometriosis. Peritoneal lesions may vary widely in appearance. Some may be clear or red; others brown, blue, or black; and some may have a white, scar-like appearance. To identify this elusive disease, it is critical that the clinician be able to recognize its “many faces.”

Among other diseases of the female pelvis that have a relatively similar presentation, Dr. Lue adds, are pathologies of the
• Uterus (adenomyosis, fibroids)
• Fallopian tube (hydrosalpinx)
• Ovaries (ovarian cysts)
• Bladder (interstitial cystitis)
• Bowel (irritable bowel syndrome)
• Musculoskeletal system (piriformis syndrome).
Before pelvic pain is attributed to endometriosis, he says, the provider should rule out bowel, bladder, musculoskeletal, and psychiatric causes.

This article focuses on seven questions, the answers to which are critical to narrowing in on the diagnosis of endometriosis, including essential factors to consider in the patient history, imaging and other diagnostic tools, and considerations in surgical exploration.

Investigators exploring the length of time from a patient’s presentation with symptoms to diagnosis have found it to be particularly long for endometriosis, ranging from six to 11 years.

Because endometriosis is usually not high on the list of differential diagnoses for chronic pelvic pain in the primary care setting, a patient may not be referred to a gynecologist unless those symptoms include severe dysmenorrhea, dyspareunia, or similar findings. Once the referral is made, the gynecologist “will usually try contraceptive steroids, NSAIDs, or second-line progestins before a diagnosis is made,” says Dr. Giudice.5

The delay in diagnosis “is astounding,” she adds, “and has its roots in empiric medical therapies and a combination of patients fearing a diagnosis of cancer and reluctance of gynecologists to perform laparoscopy on adolescents.”6 Another possible cause of diagnostic delay: Some adolescent girls may not realize when their pain is severe. Because they may have always experienced a high degree of pain since menarche, they may assume it to be a normal aspect of womanhood and delay seeking help, says Pamela Stratton, MD.

Continue to learn any biomarkers proved to be useful diagnostic tools >>


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