Endometriosis

Presence of endometrial tissue (glands and stroma) outside the uterus; lesions are estrogen-dependent, causing chronic inflammation, scarring, pelvic pain, and often infertility.

• Common (≈10% of reproductive-age women) and a major cause of chronic pelvic pain. Endometriosis can also cause infertility in about 30–50% of affected women, impacting quality of life and necessitating medical or surgical intervention.

• Usually seen in women in their 20s–40s with cyclical pelvic pain and dysmenorrhea (often starting before menses and easing after). Pain may be severe and unresponsive to typical dysmenorrhea treatments (NSAIDs).
• Dyspareunia (pain with deep intercourse) and dyschezia (painful bowel movements during menses) are common, and some patients have dysuria or hematuria if lesions involve the bladder.
• Many patients have difficulty conceiving; endometriosis is diagnosed in up to half of women evaluated for infertility (due to adhesions and ovarian dysfunction from the implants).
• Physical exam can be normal or show tender nodules in the posterior vaginal fornix (uterosacral ligaments), a fixed retroverted uterus (due to adhesions), or an adnexal mass suggestive of an ovarian endometrioma.

1. Initial management is often empiric if clinical suspicion is high: begin analgesics and ovarian suppression (e.g., NSAIDs + continuous OCP) without immediate surgical confirmation.
2. Transvaginal ultrasound is the first-line imaging to evaluate pelvic pain or suspected endometriomas; it can identify ovarian cysts, though small implants won't be seen. MRI is second-line, used if deep infiltrating disease is suspected.
3. No definitive lab tests: CA-125 is often elevated in endometriosis (especially moderate–severe cases) but is not specific enough for diagnosis.
4. Definitive diagnosis requires laparoscopy with biopsy. Lesions can have variable appearance – classic blue-black "powder-burn" peritoneal spots and ovarian endometriomas ("chocolate cysts" filled with old blood) are characteristic findings.
5. At laparoscopy, disease severity is graded from stage I (minimal) to stage IV (severe) based on the extent of implants and adhesions. Higher stages often involve large endometriomas and dense adhesions (increasing infertility risk).

1. First-line: pain management with NSAIDs plus hormonal therapy to suppress ovulation and menstruation (continuous combined oral contraceptives or progestins).
2. Second-line: options include GnRH analogs (e.g., leuprolide) with add-back therapy, GnRH antagonists (e.g., elagolix), or danazol (androgen) – these can further reduce lesions but have more side effects. An aromatase inhibitor may be added in refractory cases.
3. Surgery: Laparoscopic excision or ablation of endometrial implants and adhesions can relieve pain and improve fertility, especially in moderate to severe disease. Large endometriomas are usually resected (cystectomy) to prevent recurrence and restore ovarian function.
4. Definitive: In severe, refractory cases when childbearing is complete, total hysterectomy with bilateral oophorectomy (removal of uterus and ovaries) offers the best chance of cure, though rare cases of recurrent symptoms have been reported even after surgery.

• Remember the "3 D's" of endometriosis: dysmenorrhea, dyspareunia, and dyschezia (painful periods, intercourse, and defecation).
• Because endometriosis is estrogen-dependent, symptoms often improve after menopause or during pregnancy (when estrogen is low and menses cease).

• Long-standing endometriosis can cause infertility (≈30–50% of patients). Always consider endometriosis in women with unexplained infertility.
• Endometriomas (ovarian "chocolate" cysts) may rupture, causing an acute abdomen with pelvic pain and peritoneal signs.
• Extensive pelvic adhesions ("frozen pelvis") can involve the bowel and ureters, leading to obstruction (e.g., cyclic constipation, hydronephrosis).
• Long-term endometriosis is linked to a slightly increased risk of ovarian cancer (especially endometriosis-associated ovarian cancers), though this is rare.

1. Suspicion: Any reproductive-aged patient with chronic pelvic pain, dysmenorrhea, and/or infertility → suspect endometriosis.
2. Initial eval: Perform a pelvic exam and transvaginal ultrasound to check for ovarian cysts or other pelvic pathology. If no endometriomas or other cause is found, consider an empiric trial of therapy (e.g., hormonal suppression) and observe for symptom improvement.
3. No improvement or unclear diagnosis → proceed to diagnostic laparoscopy for definitive identification of endometriosis lesions (visual inspection and biopsy confirmation).
4. Confirmed endometriosis → treat based on symptom severity and fertility goals: medical management (NSAIDs, OCPs or other hormonal therapy) for pain, and/or laparoscopic removal of implants and scar tissue to alleviate pain and enhance fertility.
5. If disease is severe and patient does not desire future fertility, consider definitive surgery (hysterectomy with oophorectomy) for long-term relief.

• Reproductive-age woman with chronic pelvic pain, dysmenorrhea unresponsive to NSAIDs, and difficulty conceiving; exam shows uterosacral nodularity and a fixed retroverted uterus → Endometriosis.
• Ultrasound showing an ovarian "chocolate cyst" (homogeneous blood-filled ovarian mass) in a woman with pelvic pain → Endometriosis (ovarian endometrioma).