Endometriosis
Endometriosis is a chronic condition where endometrial-like tissue grows outside the uterine cavity, affecting approximately 10% of women of reproductive age and causing pain and infertility.
Key Facts
Endometriosis affects approximately 10% of women of reproductive age (1.5 million women in the UK) Average diagnostic delay is 7-8 years from symptom onset in the UK NICE NG73 recommends suspecting endometriosis in any woman with chronic pelvic pain, dysmenorrhoea, dyspareunia, or subfertility Laparoscopy remains the gold standard for diagnosis, though deep endometriosis can be detected on TVS and MRI Empirical treatment with hormonal therapy is appropriate without need for surgical confirmation (NICE NG73) First-line: NSAIDs ± hormonal contraception (COC, POP, implant, Mirena IUS, or Depo-Provera) GnRH analogues (goserelin 3.6mg SC monthly) with add-back HRT for severe symptoms refractory to first-line treatment Endometriosis is classified by rASRM staging: Stage I (minimal) to Stage IV (severe/deep infiltrating)
Overview
Key Facts
Endometriosis is defined as the presence of endometrial-like tissue outside the uterine cavity, most commonly on the ovaries, peritoneum, uterosacral ligaments, and rectovaginal septum. It is a chronic, oestrogen-dependent condition causing significant pain and subfertility.
Epidemiology
- Affects approximately 10% of women of reproductive age (176 million worldwide)
- Present in 30-50% of women with infertility
- Present in 70-90% of women with chronic pelvic pain
- Mean diagnostic delay: 7-8 years in the UK
- Peak incidence: 25-35 years
Aetiology
- Sampson's theory (retrograde menstruation): most widely accepted; menstrual blood flows retrograde through fallopian tubes into the pelvis (occurs in 90% of women, but only 10% develop endometriosis)
- Coelomic metaplasia: peritoneal cells undergo metaplastic transformation
- Lymphatic/vascular spread: explains rare extrapelvic endometriosis
- Stem cell theory: bone marrow-derived stem cells may seed endometrial tissue
- Immune dysfunction: failure to clear ectopic endometrial cells
- Genetic: first-degree relatives have 7× increased risk
Pathophysiology
- Ectopic endometrial tissue responds to cyclical oestrogen stimulation
- Monthly proliferation, secretion, and bleeding causes chronic inflammation
- Inflammatory mediators (prostaglandins, cytokines) cause pain and adhesion formation
- Endometriomas ('chocolate cysts') form when endometriosis involves the ovary
- Deep infiltrating endometriosis (DIE) invades >5mm below the peritoneal surface
- Infertility results from tubal distortion, adhesions, impaired folliculogenesis, and altered peritoneal environment
Clinical Presentation
Classic Symptoms
- Dysmenorrhoea: typically progressive, severe, may start before menses
- Chronic pelvic pain: non-cyclical component common in advanced disease
- Deep dyspareunia: particularly with rectovaginal disease
- Dyschezia: painful defaecation, especially during menstruation (suggests rectovaginal/bowel involvement)
- Subfertility: present in 30-50% of women with endometriosis
Site-Specific Symptoms
- Bladder: dysuria, haematuria (cyclical)
- Bowel: cyclical rectal bleeding, diarrhoea, constipation, bloating
- Diaphragm/thoracic: catamenial pneumothorax, shoulder pain (rare)
Red Flags
- Severe pain unresponsive to standard analgesia
- Cyclical haematuria or rectal bleeding (deep infiltrating disease)
- Palpable nodularity in the rectovaginal septum on examination
- Fixed retroverted uterus (adhesions)
- Catamenial pneumothorax (thoracic endometriosis)
Differential Diagnosis
| Diagnosis | Key Features | Investigation |
|---|---|---|
| Adenomyosis | HMB, dysmenorrhoea, enlarged tender uterus | TVS, MRI |
| IBS | Bloating, altered bowel habit, pain related to defaecation | Rome IV criteria |
| PID | Vaginal discharge, fever, cervical excitation, acute onset | HVS, CRP |
| Ovarian cyst | Acute unilateral pain (torsion/rupture) or chronic | Pelvic USS |
| Interstitial cystitis | Suprapubic pain, frequency, urgency, negative cultures | Cystoscopy |
| Chronic pelvic pain syndrome | Multi-factorial, often no identifiable pathology | Multidisciplinary assessment |
Diagnosis / Investigation
Bedside
- Abdominal and bimanual pelvic examination: tenderness, nodularity in POD/uterosacral ligaments, fixed retroverted uterus, adnexal mass (endometrioma)
- Speculum examination: visible endometriotic lesions on cervix/vaginal vault (rare)
Bloods
- CA-125: may be elevated (non-specific; not recommended for diagnosis per NICE NG73)
- FBC (anaemia from associated HMB)
Imaging
- TVS: first-line imaging; can detect endometriomas (ground glass appearance) and deep nodules; operator-dependent
- MRI pelvis: for mapping deep infiltrating endometriosis; helpful for surgical planning
- NICE NG73: normal USS does not exclude endometriosis
Special Tests
- Laparoscopy: gold standard for diagnosis; allows histological confirmation and simultaneous treatment
- rASRM staging at laparoscopy: Stage I (minimal), II (mild), III (moderate), IV (severe)
- Diagnostic laparoscopy is NOT required before starting empirical treatment (NICE NG73)
Management
Non-pharmacological
- Pain management programme: physiotherapy, psychology, TENS
- Dietary modification: some evidence for anti-inflammatory diets
- Exercise: regular physical activity may reduce pain
- Support groups: Endometriosis UK
Pharmacological
- First-line analgesia: paracetamol ± NSAIDs (ibuprofen 400mg TDS, naproxen 250-500mg BD)
- Hormonal therapy (empirical, without need for laparoscopy):
- COC pill (continuous use to avoid withdrawal bleeds)
- Desogestrel POP 75mcg OD
- Mirena IUS
- Nexplanon implant
- Depo-Provera (medroxyprogesterone acetate 150mg IM every 12 weeks)
- Second-line: GnRH analogues (goserelin 3.6mg SC monthly or leuprorelin) with add-back HRT (continuous combined) if >6 months; causes medical menopause
- Dienogest 2mg OD: progestogen specifically licensed for endometriosis in some countries
- Neuropathic pain agents: amitriptyline 10-75mg ON, gabapentin 300-1200mg TDS for chronic pain component
Surgical/Interventional
- Laparoscopic excision (preferred) or ablation of endometriotic deposits
- Excision of endometriomas: cystectomy preserves more ovarian tissue than drainage
- Deep infiltrating endometriosis surgery: specialist centres only (colorectal, urological involvement)
- Hysterectomy ± BSO: for women with completed families and severe disease refractory to other treatments
- Presacral neurectomy: adjunct for midline pelvic pain
Referral Criteria
- Suspected endometriosis not responding to empirical treatment: gynaecology referral
- Suspected deep infiltrating endometriosis: refer to BSGE-accredited endometriosis centre
- Subfertility: reproductive medicine referral
- Multidisciplinary pain management if refractory chronic pain
Prognosis
- Endometriosis is a chronic condition; recurrence after surgery is common (40-50% at 5 years)
- Surgical excision provides symptom relief in 60-80% of women
- Fertility: spontaneous pregnancy possible in mild disease; IVF success rates comparable to other causes of subfertility
- Malignant transformation: rare (<1%); endometrioid and clear cell ovarian carcinoma associated with endometriosis
- Symptoms typically improve at menopause (though HRT may reactivate disease)
- Significant impact on quality of life, mental health, and relationships
Other Relevant Information
rASRM Staging System
| Stage | Description | Points |
|---|---|---|
| I (Minimal) | Isolated implants, no significant adhesions | 1-5 |
| II (Mild) | Superficial implants <5cm, no significant adhesions | 6-15 |
| III (Moderate) | Deep implants, small endometriomas, filmy adhesions | 16-40 |
| IV (Severe) | Large endometriomas, extensive adhesions, deep infiltration | >40 |
NICE NG73 Key Recommendations
| Recommendation | Detail |
|---|---|
| Suspect endometriosis | In any woman with chronic pelvic pain, dysmenorrhoea, dyspareunia, subfertility |
| Empirical treatment | Start hormonal therapy without need for laparoscopy |
| USS | First-line imaging; normal scan does not exclude |
| Surgery | Refer to specialist centre for deep disease |
| Follow-up | Regular review; individualised care plan |