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Endometriosis for ABIM

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Endometriosis for the American Board of Internal Medicine Exam
Definition and Pathophysiology
  • Definition
    • Endometriosis is a chronic inflammatory disorder characterized by the presence of endometrial-like tissue outside the uterine cavity.
    • Common sites include the ovaries, fallopian tubes, peritoneum, and, less frequently, organs like the bladder, bowel, or lungs.
Endometrial Lesions
  • Pathophysiology
    • Retrograde Menstruation Theory: Menstrual blood containing endometrial cells flows backward through the fallopian tubes into the pelvic cavity.
    • Coelomic Metaplasia: Peritoneal cells transform into endometrial-like cells due to certain inflammatory or hormonal stimuli.
    • Immune Dysfunction: Altered immune responses fail to clear ectopic endometrial cells, contributing to lesion formation.
    • Genetic Predisposition: Endometriosis has a genetic component, often with a familial clustering pattern.
Risk Factors
  • Family History: Increased risk in first-degree relatives of affected women.
  • Menstrual Characteristics: Early menarche, short menstrual cycles (<27 days), and prolonged bleeding are associated with a higher risk.
  • Low Body Mass Index (BMI): Lean women may have a higher risk.
  • Nulliparity: Higher incidence is noted in women who have not carried a pregnancy to term.
Clinical Manifestations
  • Pelvic Pain:
    • Chronic pelvic pain is the most common symptom, worsening during menstruation (dysmenorrhea).
    • Can also present as noncyclical pain, especially in advanced stages.
  • Dyspareunia: Pain during sexual intercourse, typically with deep penetration due to pelvic adhesions and inflammation.
  • Dyschezia: Painful bowel movements, often during menstruation, especially if endometrial implants are on the bowel.
  • Urinary Symptoms: Urinary urgency or pain, especially with lesions involving the bladder.
  • Infertility:
    • Endometriosis is a significant cause of infertility due to factors like pelvic adhesions, distorted pelvic anatomy, and inflammatory changes in the reproductive organs.
    • About 30-50% of women with endometriosis have difficulty conceiving.
Diagnosis
  • Clinical Evaluation:
    • Based on symptoms such as pelvic pain, dysmenorrhea, dyspareunia, and infertility.
    • Physical examination may reveal tenderness, adnexal masses, or nodularity in the posterior fornix on bimanual examination.
  • Imaging Studies:
    • Transvaginal Ultrasound: Primary imaging modality to identify ovarian endometriomas, which appear as cysts with a characteristic "ground-glass" appearance.
    • Magnetic Resonance Imaging (MRI): Can be used for more detailed evaluation, especially for deep infiltrating endometriosis.
  • Laparoscopy:
    • Gold Standard for Diagnosis: Allows direct visualization and biopsy of lesions.
    • Enables assessment of lesion severity, adhesions, and pelvic anatomy.
    • Laparoscopy is used diagnostically and therapeutically to treat visible lesions.
  • Staging:
    • Revised American Society for Reproductive Medicine (rASRM) Staging: Stages I-IV based on lesion location, depth, and extent of adhesions.
    • Important for guiding treatment but not necessarily correlating with symptom severity.
Differential Diagnosis
  • Pelvic Inflammatory Disease (PID): Presents similarly with pelvic pain but often includes fever, leukocytosis, and a history of sexually transmitted infections.
  • Irritable Bowel Syndrome (IBS): Characterized by abdominal pain, altered bowel habits, and bloating without physical exam findings or lesions.
  • Interstitial Cystitis: Bladder pain syndrome with urinary urgency and frequency, particularly painful without identifiable endometrial implants in the bladder.
  • Ovarian Cysts and Tumors: May cause pelvic pain and are visible on imaging, with ultrasound distinguishing simple cysts from endometriomas.
Management
  • Medical Management:
    • Nonsteroidal Anti-Inflammatory Drugs (NSAIDs): First-line treatment for pain management.
    • Hormonal Therapies:
    • Combined Oral Contraceptives (COCs): Reduce pain by suppressing menstruation and hormonal cycling.
    • Progestins: Inhibit endometrial growth; options include oral progestins, injectable medroxyprogesterone acetate, and levonorgestrel intrauterine device (LNG-IUD).
    • Gonadotropin-Releasing Hormone (GnRH) Agonists: Induce a hypoestrogenic state, reducing endometrial implant activity and associated symptoms.
    • GnRH Antagonists: Orally active agents (e.g., elagolix) offer an alternative to GnRH agonists with fewer menopausal-like symptoms.
  • Surgical Management:
    • Laparoscopic Excision or Ablation: Used in cases of severe symptoms or infertility unresponsive to medical treatment.
    • Hysterectomy with or without Bilateral Salpingo-Oophorectomy: Considered a definitive treatment, especially for those with refractory symptoms not wanting fertility preservation.
    • Adhesiolysis: Relieves pain and restores anatomy in cases with significant adhesions.
    • Excision of Deep Infiltrating Lesions: Helps manage symptoms like dyspareunia and dyschezia associated with bowel or bladder involvement.
  • Management of Infertility:
    • Laparoscopic Surgery: Improves fertility by removing endometriotic lesions and adhesions.
    • Assisted Reproductive Technologies (ART): In vitro fertilization (IVF) may be considered, especially in cases with bilateral ovarian endometriomas or severe disease.
  • Emerging Therapies:
    • Selective Progesterone Receptor Modulators (SPRMs): Under investigation as a potential treatment to reduce implant growth without suppressing ovarian function.
    • Immune Modulators: Exploring therapies targeting inflammatory pathways that may contribute to endometriosis progression.
Complications
  • Chronic Pain: Persistent pelvic pain may develop in untreated or refractory endometriosis, leading to reduced quality of life.
  • Ovarian Cysts (Endometriomas): "Chocolate cysts" due to accumulated old blood in the ovaries, potentially causing ovarian torsion.
  • Infertility: Related to tubal damage, adhesions, and inflammatory changes within the reproductive organs.
  • Increased Risk of Malignancy: Endometriosis is associated with an increased risk of ovarian clear cell and endometrioid carcinomas, particularly in those with long-standing disease.
Key Points
  • Endometriosis is a chronic inflammatory disorder where endometrial-like tissue exists outside the uterus, leading to pain, infertility, and a range of symptoms.
  • Pathophysiology involves retrograde menstruation, coelomic metaplasia, immune dysfunction, and possible genetic factors.
  • Risk factors include family history, early menarche, short cycles, low BMI, and nulliparity.
  • Common Symptoms:
    • Pelvic pain, worsened with menstruation (dysmenorrhea).
    • Pain with sexual intercourse (dyspareunia).
    • Painful defecation (dyschezia) and, in some cases, urinary symptoms.
    • Approximately 30-50% of affected women experience infertility.
  • Diagnosis relies on clinical assessment, imaging (ultrasound, MRI), and laparoscopic confirmation.
    • Laparoscopy is both diagnostic and therapeutic, allowing direct visualization and treatment.
    • Staging (rASRM Staging) aids in assessing disease extent.
  • Differential Diagnoses include pelvic inflammatory disease, irritable bowel syndrome, interstitial cystitis, and ovarian cysts.
  • Treatment:
    • Medical: NSAIDs for pain; hormonal options such as oral contraceptives, progestins, and GnRH agonists/antagonists to suppress endometrial growth.
    • Surgical: Laparoscopy for lesion excision, adhesiolysis, and possibly hysterectomy in severe or refractory cases.
    • For infertility, laparoscopy or IVF may be considered, especially with extensive disease.
  • Complications can include chronic pain, endometriomas, infertility, and an increased risk of ovarian malignancies, especially in longstanding cases.

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