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 |