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Endometriosis

BASICS

DESCRIPTION

  • Common and potentially painful, estrogen-dependent gynecologic condition.
  • Symptoms: pelvic/abdominal pain, pelvic mass, decreased fertility.
  • Ectopic endometrial implants outside uterus; common sites:
  • Peritoneum (bladder, cul-de-sac, pelvic walls, ligaments, fallopian tubes)
  • Ovaries
  • Rectovaginal septum
  • Implants proliferate and slough cyclically.
  • Stages I (minimal) to IV (severe). Staging guides therapy but does not correlate with pain severity.

EPIDEMIOLOGY

  • Affects 6-10% of fertile biologic females.
  • Found in 21-40% of infertile women; 70-90% with chronic pelvic pain.
  • Pediatric onset can occur at puberty; leads to severe dysmenorrhea and missed activities.
  • Pregnancy reduces pelvic endometriosis symptoms but lowers fecundability (from 15-20% to 2-10% per month).
  • Symptoms may persist or worsen with hormone replacement therapy (HRT) in menopause.

ETIOLOGY AND PATHOPHYSIOLOGY

  • Not fully understood; involves immunologic changes and genetic predisposition.
  • Theories:
  • Sampson: retrograde menstruation causes peritoneal implantation.
  • Halban: hematogenous/lymphatic spread or metaplasia.
  • Coelomic metaplasia: differentiation of peritoneal epithelium into endometrium.
  • Endometriosis-associated infertility multifactorial:
  • Pelvic inflammation
  • Anatomic distortion (e.g., tubal obstruction)
  • Activated macrophages phagocytosing gametes
  • Eutopic endometrium alteration
  • Genetics: OR 7.2 if first-degree relative affected; increased severity risk.

RISK FACTORS

  • Family history
  • Prolonged menstruation/ovulation (early menarche, late menopause)
  • Delayed childbirth/nulliparity
  • Low BMI
  • Menstruation >5 days, cycles <28 days

GENERAL PREVENTION

  • Suppress heavy menstruation and ovulation (e.g., oral contraceptives) during adolescence.
  • Protective factors: fruits, green vegetables, n-3 fatty acids, regular aerobic exercise (>4 hrs/week).
  • Early diagnosis and treatment may prevent sequelae.

COMMONLY ASSOCIATED CONDITIONS

  • Infertility, dysmenorrhea, ovarian cysts, dyspareunia, chronic pelvic pain, pelvic inflammatory disease, irritable bowel syndrome.

DIAGNOSIS

HISTORY

  • Dysmenorrhea (50-90%), especially with deep infiltrating implants.
  • Dyspareunia ± postcoital bleeding (cul-de-sac, uterosacral ligaments).
  • Dyschezia (rectosigmoid and rectovaginal involvement).
  • Chronic pelvic pain ≥6 months, worsening premenstrually.
  • Hematochezia, cyclic nausea, abdominal distention.
  • Infertility (late sign).
  • Family history of pelvic pain, infertility, hysterectomy.

PHYSICAL EXAM

  • Focal pelvic tenderness (66% associated).
  • Pelvic mass or immobile organs ("frozen pelvis").
  • Rectovaginal exam: uterosacral nodules, beading, tenderness.
  • Severe cases: exquisite uterosacral ligament tenderness.

DIFFERENTIAL DIAGNOSIS

  • Pelvic adhesions, nonspecific dysmenorrhea, PID, ovarian cysts, hydrosalpinges, leiomyomas, adenomyosis, IBS, IBD, malignancy, pregnancy complications, UTI/interstitial cystitis, anal fissures, psychosexual pain, vaginal atrophy, vulvodynia.

DIAGNOSTIC TESTS & INTERPRETATION

  • Primarily clinical diagnosis; labs for exclusion only.
  • CA-125 not recommended (low sensitivity).
  • Transvaginal ultrasound (TVUS) preferred for adnexal lesions; MRI for deep infiltrating disease.
  • Both poor at detecting peritoneal implants/adhesions.
  • Definitive diagnosis by histology after laparoscopy/laparotomy (powder-burn lesions, "chocolate cysts").

TREATMENT

GENERAL MEASURES

  • Tailored to age, reproductive goals, symptom severity, organ involvement.

MEDICATION

  • Symptom relief and disease progression prevention; benefits often limited/intermittent.

First Line

  • NSAIDs for pain relief.
  • Combined oral contraceptive pills (OCPs) suppress ovulation.
  • Increased aerobic exercise.

Second Line

  • Continuous combined OCPs or low-dose progestins (3-6 months).
  • Levonorgestrel IUD (Mirena) reduces painful menstruation recurrence.
  • Medroxyprogesterone acetate 150 mg IM q3 months (bone density concerns).

Third Line

  • GnRH agonists (leuprolide, nafarelin, goserelin) induce hypoestrogenism.
  • Danazol (androgenic side effects).
  • Aromatase inhibitors (anastrozole, letrozole) prolong remission.
  • Calcium + vitamin D or low-dose estrogen-progestogen recommended to prevent bone loss.

ISSUES FOR REFERRAL

  • Early referral to gynecologist specializing in medical/surgical endometriosis if fertility desired or treatment failure.

ADDITIONAL THERAPIES

  • Exercise and pain management counseling.
  • Avoid narcotics for chronic pain.

SURGERY

  • Diagnostic and therapeutic laparoscopy/laparotomy.
  • Procedures: ablation/excision of lesions, cyst drainage/removal (>3-4 cm), lysis of adhesions.
  • Hysterectomy + bilateral salpingo-oophorectomy for refractory symptoms in nonpregnant patients.
  • Postsurgical hormone replacement as needed.
  • Nerve interruption (presacral neurectomy) may reduce dysmenorrhea.
  • Fertility treatment: ablation/excision with adhesiolysis recommended for stage I/II. IVF unaffected by disease.

ALERT

  • Surgery for endometriomas may reduce ovarian reserve in advanced disease.

COMPLEMENTARY & ALTERNATIVE MEDICINE

  • Osteopathic manipulative therapy improves quality of life.
  • Chinese herbal medicine effective post-surgery.
  • Acupuncture may relieve pain.
  • Botulinum toxin injections for pain control.

ONGOING CARE

FOLLOW-UP

  • Routine gynecologic care.
  • Monitor symptomatic/asymptomatic pelvic masses.

PROGNOSIS

  • Excellent with early diagnosis/treatment.
  • Poor fertility recovery if stage III/IV disease.
  • Symptoms improve after bilateral oophorectomy.

COMPLICATIONS

  • Chronic pelvic pain, reduced quality of life, repeated surgeries, depression, medication side effects, infertility.

REFERENCES

  1. Kiesel L, Sourouni M. Diagnosis of endometriosis in the 21st century. Climacteric. 2019;22(3):296-302.
  2. Chauhan S, More A, Chauhan V, et al. Endometriosis: a review of clinical diagnosis, treatment, and pathogenesis. Cureus. 2022;14(9):e28864.
  3. Mira TAA, Buen MM, Borges MG, et al. Systemic review and meta-analysis of complementary treatments for women with symptomatic endometriosis. Int J Gynaecol Obstet. 2018;143(1):2-9.

ADDITIONAL READING

  • Mistry M, Simpson P, Morris E, et al. Cannabidiol for endometriosis and chronic pelvic pain. J Minim Invasive Gynecol. 2022;29(2):169-176.
  • Rossi V, Tripodi F, Simonelli C, et al. Endometriosis-associated pain: quality of life and sexual health. Minerva Ostet Gynecol. 2021;73(5):536-552.
  • Zondervan KT, Becker CM, Missmer SA. Endometriosis. N Engl J Med. 2020;382(13):1244-1256.

CODES

  • ICD10 N80.2 Endometriosis of fallopian tube
  • ICD10 N80.5 Endometriosis of intestine
  • ICD10 N80.0 Endometriosis of uterus

CLINICAL PEARLS

  • Consider endometriosis in reproductive-age women with chronic pelvic/abdominal pain, dysmenorrhea, or infertility.
  • Diagnosis is clinical; no reliable labs. TVUS helpful for adnexal lesions.
  • First-line treatment: NSAIDs and oral contraceptives.
  • Refer to gynecology if fertility desired or refractory symptoms.