Avoiding Delays in Diagnosing Endometriosis

A 27-year-old woman presents for a new patient visit to discuss chronic, severe menstrual-related pain that began at menarche when she was 12 years of age, causing her to miss many days of school and work. Over the past few years, she has been examined by her primary care physician several times and consulted a gynecologist for the pain, which is associated with nausea, diarrhea, and abdominal bloating. Results of abdominal and pelvic examinations and laboratory testing, including a complete blood count, comprehensive metabolic profile, thyroid-stimulating hormone level, progesterone level, and tests for sexually transmitted infections, were normal. Dysmenorrhea was diagnosed, and the patient was treated with ibuprofen, naproxen, and several trials of oral contraceptives, with little or no relief. She is constantly tired and feels anxious and depressed. She is struggling at work, especially when she has her menstrual period, and recently broke up with her significant other because of her labile moods and emotional outbursts. She is tearful and appears to be desperate for help.

EPIDEMIOLOGY

Endometriosis is an idiopathic inflammatory, estrogen-dependent condition caused by the presence of endometrial tissue outside of the uterus.¹ Endometriosis is characterized by painful and disabling menstrual symptoms. The most commonly reported symptoms are painful periods (62%), heavy/irregular bleeding (51%), and pelvic pain (37%).² Endometriosis affects approximately 10% of reproductive-aged women and others assigned female sex at birth.³ Endometriosis is more common in people with onset of menarche before 12 years of age, menstrual cycles of less than 24 days, lower parity, and lower lean body weight (i.e., the difference between total body weight and body fat weight).³ Up to 50% of people with concomitant infertility and chronic pelvic pain have endometriosis.³ Endometriosis has been called a “missed disease” due to its unclear etiology, lack of research, and inconsistency in diagnosis and management, leading to frequent diagnostic and therapeutic delays.⁴

Multiple studies have confirmed the significant economic burden of endometriosis, with associated medical costs totaling $78 to $119 billion annually in the United States.⁵ Significantly higher costs are incurred in patients who experience longer diagnostic delays.^5–7 The effect of endometriosis on home or work productivity and absenteeism can be substantial, with the average patient losing more than 10 hours of weekly productivity.^8,9

Endometriosis is associated with a significantly lower quality of life, depression, increased self-harm, and the development of multiple medical comorbidities, including autoimmune disease, inflammatory bowel disorders, and psychiatric disorders.^10–12 Endometriosis is also linked to a higher risk of ovarian cancer.^10–12 The lack of a clear path to a diagnosis often leads clinicians and patients to inappropriately dismiss symptoms as a normal part of the menstrual cycle.¹³ Patients are also often reluctant to disclose menstrual symptoms.¹⁴ The stigma of endometriosis is associated with adverse effects on physical and mental health, deterioration of family and social interactions, and dismissive attitudes of health care professionals.¹⁵

CLINICAL PRESENTATION AND BENEFITS OF EARLY DIAGNOSIS

Patients with endometriosis commonly present with severe menstrual pain, cramping, and heavy menstrual bleeding. Other symptoms include dyspareunia, fatigue, dysuria, rectal pain, diarrhea, and infertility.¹⁶ No laboratory tests are helpful in the diagnosis of endometriosis, but tumor markers in women older than 50 years may help exclude malignant conditions.^17,18 The clinical presentation of endometriosis can be confused with many gynecologic, gastroenterologic, and mental health conditions, leading to an average diagnostic delay of four to 11 years and subsequent treatment delays.^19–21 The average patient sees seven physicians before endometriosis is diagnosed.²²