Diagnosis of endometriosis is often problematic. Although patients classically present with pelvic pain, dysmenorrhea, dyspareunia, pelvic mass and infertility, there are also many patients who are asymptomatic. It has been found that 25% of all women who experience pelvic pain and 40-50% of infertile women have endometriosis. Most symptoms that women experience are a result of local infiltration of endometriosis into the pelvis: pelvic pain, dyschezia (painful defecation), abdominal bloating, dyspareunia, back pain, dysuria and suprapubic pain. Menstruation can greatly accentuate these symptoms.
Because of the poor correlation between these symptoms and the diagnosis of endometriosis, there should be a careful clinical evaluation in combination with judicious use and critical interpretation of laboratory tests, imaging techniques, and, in most instances, surgical staging combined with histological examination of excised lesions. A thorough medical history should be taken focusing on duration and location of pain in addition to a precise physical examination noting areas of pain and tenderness. Family history can reveal female relatives with similar symptoms or even a diagnosis of endometriosis suggesting a higher risk for developing endometriosis.
Laboratory markers such as serum CA-125 are of limited value. It is usually elevated only in advanced stages of endometriosis and can also be elevated in other gynecological conditions; therefore not suitable for routine screening. Transvaginal ultrasound and magnetic resonance imaging are often helpful, particularly in detection of endometriotic cysts. Recently, transrectal ultrasound and magnetic resonance imaging were shown to be valuable in detection of deep infiltrating lesions, especially in the rectovaginal septum. For most clinicians, laparoscopy allows a direct assessment of the pelvis for endometriotic foci and the ability to make a definitive diagnosis through appropriate biopsies. Laparoscopy also allows for the possibility of treatment through resection of endometriotic lesions and endometriomas and lysis of adhesions. Medical treatment options are effective, as are surgical treatment options. Complications associated with surgery, however, push the balance in favor of empiric short term medical therapy whenever possible. Clinicians often choose to treat women with endometriosis-related complaints with a first-line medical therapy. If that fails, then a second-line medical therapy is warranted under most conditions. Laparoscopic surgery is often reserved for patients in whom second-line medical therapy has failed or is contraindicated by desire to conceive.
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