Diseases of the Oesophagus

Overview

Muscular tube pharynx→stomach, 25cm (~40cm from incisors clinically). Upper oesophageal sphincter(cricopharyngeus level), lower oesophageal sphincter(GE junction). Wall: mucosa(non-keratinising squamous, except lower 0.5-1.5cm=abrupt SQUAMOCOLUMNAR JUNCTION), submucosa(mucus glands), muscularis propria(inner circular+outer longitudinal, proximal=skeletal muscle), adventitia/serosa(serosa only intra-abdominal part). Functions: peristaltic swallowing + reflux prevention.

Congenital anomalies

Rare: agenesis(incompatible with life), duplication, congenital stenosis. MORE COMMON: OESOPHAGEAL ATRESIA+TRACHEO-OESOPHAGEAL FISTULA — associated together 85% of atresia, usually at tracheal bifurcation. MUST correct surgically within 48hrs of birth. Clinical: regurgitation every feed, hypersalivation, cough, cyanosis. Death: asphyxia, aspiration pneumonia, fluid-electrolyte imbalance. Morphology: cord-like non-canalised segment, blind pouch both ends.

Muscular dysfunctions (dysphagia-presenting)

Achalasia (cardiospasm) — cardiac sphincter fails to relax→progressive dysphagia+dilatation(MEGA-OESOPHAGUS). Etiology: loss of intramural neurons. Mostly PRIMARY IDIOPATHIC(congenital). Secondary: CHAGAS’ DISEASE(Trypanosoma cruzi), gastric CA/lymphoma infiltration, viral infections, neurodegenerative disease. Morphology: dilatation above short contracted terminal segment; muscularis normal/hypertrophied/thinned; ±secondary oesophagitis→ulceration+haematemesis.

Hiatus hernia — stomach herniates through diaphragmatic hiatus. CAUSE OF 98% diaphragmatic hernias. 5% asymptomatic incidental. Symptomatic(elderly women): heartburn, worse with work/lifting/bending. Etiology: diaphragmatic muscle fiber failure from oesophageal shortening — congenital(rare) or acquired(ageing degeneration, ↑intra-abdominal pressure, reflux-induced fibrosis, obesity).

3 patterns:

1. SLIDING(oesophago-gastric) — COMMONEST(85%), supradiaphragmatic bell, slides up both sides
2. ROLLING(para-oesophageal) — 10%, TRUE hernia, cardiac end rolls up, intrathoracic sac — STRANGULATION RISK despite being rarer
3. MIXED/transitional — 5%, combination

Oesophageal diverticula — outpouchings at weak points. Congenital(upper/tracheal bifurcation) or acquired: PULSION(Zenker’s, hypopharyngeal, from obstruction) vs TRACTION(lower third, fibrous contraction from pleural adhesions/TB scars/silicosis). Complications: obstruction, infection, perforation, haemorrhage, carcinoma.

Webs and rings — radiological dysphagia findings. WEBS=upper oesophagus, ADULT WOMEN, IRON-DEFICIENCY ANAEMIA+chronic atrophic glossitis(PLUMMER-VINSON SYNDROME). RINGS(SCHATZKI’S)=lower oesophagus, NO iron-deficiency/female link (key differentiator pair). Morphology: transverse mucosal/submucosal folds or annular muscle thickening.

Haematemesis of oesophageal origin

1. OESOPHAGEAL VARICES — tortuous dilated veins, ↑portal pressure(mostly CIRRHOSIS, also portal vein thrombosis/Budd-Chiari/pylephlebitis). Portal blood bypasses liver→oesophageal plexus→superficial vein ulceration→massive bleeding
2. MALLORY-WEISS SYNDROME — mucosal lacerations at GE junction from minor trauma(vomiting/retching/coughing)
3. Oesophageal rupture — trauma, oesophagoscopy, sudden accel/decel, spontaneous(overeating/aerophagy)
4. Others: aortic aneurysm bursting, vascular erosion by nearby malignancy, hiatus hernia, oesophageal cancer, purpuras, haemophilia

(3-way bleeding differential: varices=portal HTN mechanism, Mallory-Weiss=mechanical tear, reflux oesophagitis=chronic acid injury — different management each)

Oesophagitis

Reflux (peptic) oesophagitis — COMMONEST cause. Normal after meals/early pregnancy; EXCESSIVE with: sliding hiatus hernia, chronic gastric/duodenal ulcer, NG intubation, persistent vomiting, vagotomy, alcoholic/diabetic neuropathy, oesophagogastrostomy.

Morphology: endoscopy=lost squamocolumnar demarcation, red/erythematous/friable/bleeds on touch; advanced=nodularity/strictures/ulceration/erosions. Micro: basal cell hyperplasia+papillae elongation; early=polymorph/eosinophil infiltrate; chronic=lymphocytic infiltrate+full-thickness fibrosis.

Barrett’s oesophagus — post-reflux, squamous→columnar metaplasia (lower oesophagus). ↑with age. PREMALIGNANT — sequence: Barrett’s epithelium(columnar+goblet cells)→dysplasia→CIS→ADENOCARCINOMA (single most important premalignant lesion here).

Morphology: endoscopy=red velvety, ±hiatus hernia+BARRETT’S ULCER(squamocolumnar junction). Micro: squamous→metaplastic columnar+goblet+Paneth cells(intestinal metaplasia); LONG segment(≥3cm) vs SHORT(<3cm); ±dysplasia(low-high grade); peptic ulcer changes; inflammation; ±stricture(long segment).

High-grade dysplasia→invasive adenocarcinoma up to 20%. Overall risk = 0.5%/YEAR after diagnosis → justifies SURVEILLANCE endoscopic biopsies.

Other oesophagitis causes: Infective(Candida, HSV, CMV, TB — mostly immunosuppressed). Non-infective(radiation/corrosives→eosinophilic oesophagitis, drugs[anticholinergics/doxycycline/tetracycline], hot fluids, Crohn’s, vesiculobullous skin disease).

Benign tumours

Uncommon, small(<3cm). Epithelial: squamous papilloma, adenoma. Stromal(intramural): LEIOMYOMA(commonest), lipoma, fibroma, neurofibroma, rhabdomyoma, lymphangioma, haemangioma. Malignant sarcomas EXTREMELY RARE — malignant tumours are practically always carcinomas (see Carcinoma of Oesophagus).

Clinical relevance

Webs(upper, women, iron-deficiency, Plummer-Vinson) vs rings(lower, no such links, Schatzki’s) = compact tested pair — location+anaemia link separates them. Barrett’s = single most important premalignant lesion — stepwise progression + 0.5%/yr risk = direct justification for surveillance. Sliding(common, usually benign) vs rolling(rarer, TRUE strangulation risk) hiatus hernia = clinically matters despite rolling being less frequent. Varices/Mallory-Weiss/reflux oesophagitis = upper GI bleeding differential cluster, overlapping presentation but different mechanisms→different management.

Overview

The oesophagus is a muscular tube from pharynx to stomach (25 cm in adults; ~40 cm from incisor teeth to the gastro-oesophageal junction clinically). The proximal region at the cricopharyngeus level forms the upper oesophageal sphincter; the region adjacent to the anatomic gastro-oesophageal junction forms the lower oesophageal sphincter. Wall layers: mucosa (non-keratinising stratified squamous epithelium, except the lower 0.5–1.5 cm, where an abrupt squamocolumnar junctional mucosa transition to mucin-secreting columnar epithelium occurs), submucosa (mucus glands, scattered lymphocytes/plasma cells), muscularis propria (inner circular + outer longitudinal smooth muscle, with skeletal muscle proximally from the cricopharyngeus), and adventitia/serosa (serosa only in the intra-abdominal segment). Main functions: peristaltic swallowing and preventing gastric reflux.

Congenital Anomalies

Uncommon, detected soon after birth. Rare forms: agenesis (incompatible with life), duplication, congenital stenosis (fibrous wall thickening with muscularis atrophy). More common: oesophageal atresia with tracheo-oesophageal fistula — associated together in ~85% of atresia cases, usually at the level of tracheal bifurcation. Must be surgically corrected within 48 hours of birth for survival. Clinical features: regurgitation of every feed, hypersalivation, coughing attacks, cyanosis; death from asphyxia, aspiration pneumonia, or fluid-electrolyte imbalance. Morphology: a cord-like, non-canalised oesophageal segment with a blind pouch at both ends.

Muscular Dysfunctions

Motor dysfunction disorders presenting with dysphagia: achalasia, hiatus hernia, diverticula, webs/rings.

Achalasia (Cardiospasm)

Neuromuscular dysfunction in which the cardiac sphincter fails to relax during swallowing, causing progressive dysphagia and oesophageal dilatation (mega-oesophagus).

Etiology: loss of intramural neurons in the oesophageal wall. Most cases are primary idiopathic (congenital). Secondary causes: Chagas’ disease (Trypanosoma cruzi), infiltration by gastric carcinoma/lymphoma, certain viral infections, neurodegenerative disease.

Morphology: dilatation above a short, contracted terminal segment; muscularis propria may be normal, hypertrophied (from obstruction), or thinned (from dilatation); secondary oesophagitis may cause ulceration and haematemesis.

Hiatus Hernia

Herniation of part of the stomach through the diaphragmatic oesophageal hiatus — the cause of diaphragmatic hernia in 98% of cases. Diagnosed radiologically in ~5% of asymptomatic individuals. Symptomatic cases (especially elderly women): heartburn, worsened by heavy work/lifting/bending.

Etiology: basic defect is failure of the diaphragmatic muscle fibres bordering the hiatus, from oesophageal shortening — congenital (rare) or, more commonly, acquired from age-related muscle degeneration, increased intra-abdominal pressure (pregnancy, abdominal tumours), recurrent reflux-induced inflammation/fibrosis, or obesity-related decreased diaphragmatic elasticity.

Morphology — three patterns:

1. Sliding (oesophago-gastric) hernia — commonest (85%); herniated stomach forms a supradiaphragmatic bell, sliding up both sides of the oesophagus.
2. Rolling (para-oesophageal) hernia — 10%; a true hernia where the cardiac stomach end rolls up para-oesophageally, forming an intrathoracic sac.
3. Mixed/transitional hernia — remaining 5%, combining both patterns.

Oesophageal Diverticula

Outpouchings at points of wall weakness — congenital (upper oesophagus or tracheal bifurcation) or acquired:

• Pulsion (Zenker’s) type — hypopharyngeal region, from oesophageal obstruction (chronic oesophagitis, carcinoma); mucosa/submucosa herniate through a weakened muscularis defect.
• Traction type — lower third, from fibrous tissue contraction (pleural adhesions, healed tuberculous hilar scars, silicosis).

Complications: obstruction, infection, perforation, haemorrhage, carcinoma.

Oesophageal Webs and Rings

Radiological “web”/“ring” shadows in dysphagia patients. Webs — upper oesophagus, more common in adult women, associated with iron deficiency anaemia and chronic atrophic glossitis (Plummer-Vinson syndrome). Rings (Schatzki’s rings) — lower oesophagus, not associated with iron deficiency or female predominance. Morphology: transverse mucosal/submucosal folds encircling the full circumference, or localised annular muscle thickenings.

Haematemesis of Oesophageal Origin

1. Oesophageal varices — tortuous, dilated, engorged longitudinal oesophageal veins from elevated portal venous pressure, most commonly cirrhosis (less commonly portal vein thrombosis, Budd-Chiari syndrome, pylephlebitis); portal blood bypasses the liver into the oesophageal venous plexus, and superficial vein ulceration causes massive bleeding.
2. Mallory-Weiss syndrome — mucosal lacerations at the gastro-oesophageal junction from minor trauma (vomiting, retching, vigorous coughing); presents with upper GI bleeding.
3. Rupture of the oesophagus — from trauma, during oesophagoscopy, indirect injury (sudden acceleration/deceleration), or spontaneous rupture (overeating, extensive aerophagy).
4. Other causes: aortic aneurysm bursting into the oesophageal lumen, vascular erosion by nearby malignancy, hiatus hernia, oesophageal cancer, purpuras, haemophilia.

Inflammatory Lesions (Oesophagitis)

Reflux (Peptic) Oesophagitis

The commonest cause of oesophagitis. Some reflux is normal after meals/early pregnancy, but excessive reflux causing inflammation occurs with: sliding hiatus hernia, chronic gastric/duodenal ulcers, nasogastric intubation, persistent vomiting, surgical vagotomy, alcoholic/diabetic neuropathy, oesophagogastrostomy.

Morphology: endoscopically — loss of the squamocolumnar junctional demarcation; red, erythematous, friable, touch-bleeding distal mucosa; advanced cases show nodularity, strictures, ulceration, erosions. Micro: basal cell hyperplasia, papillae elongation approaching the surface; early stage — polymorph/eosinophil infiltrate; chronic stage — lymphocytic infiltrate and full-thickness wall fibrosis.

Barrett’s Oesophagus

Following reflux oesophagitis, the lower oesophagus’s stratified squamous epithelium is replaced by columnar epithelium (columnar metaplasia). More common with advancing age; caused by GERD-producing factors. Premalignant — evolves sequentially from Barrett’s epithelium (columnar metaplasia with goblet cells) → dysplasia → carcinoma in situ → oesophageal adenocarcinoma.

Morphology: endoscopically red, velvety affected area; hiatus hernia and squamocolumnar-junction peptic ulcer (Barrett’s ulcer) frequently coexist. Micro:

1. Squamous epithelium replaced by metaplastic columnar cells with goblet and Paneth cells (intestinal metaplasia); classified as long segment (≥3 cm) or short segment (<3 cm).
2. Intestinal metaplasia may show dysplasia (low to high grade).
3. Peptic ulcer changes from fundic gastric or cardiac mucous glands.
4. Common acute/chronic inflammatory change.
5. Stricture may develop in long-segment disease.

High-grade dysplasia progresses to invasive adenocarcinoma in up to 20% of cases; overall adenocarcinoma risk is ~0.5% per year after diagnosis — hence surveillance endoscopic biopsies are advised.

Other Causes of Oesophagitis

Infective: Candida (monilial), herpes simplex, cytomegalovirus, tuberculosis — mostly in immunosuppressed patients. Non-infective: eosinophilic oesophagitis (radiation, corrosives), certain drugs (anticholinergics, doxycycline, tetracycline), hot/irritating fluid ingestion, Crohn’s disease, vesiculobullous skin diseases.

Tumours of the Oesophagus (Benign)

Uncommon, small (<3 cm). Epithelial: squamous cell papilloma, adenoma. Stromal/mesenchymal (intramural): leiomyoma (commonest), lipoma, fibroma, neurofibroma, rhabdomyoma, lymphangioma, haemangioma. Malignant sarcomas (leiomyosarcoma, fibrosarcoma) are extremely rare — for practical purposes, malignant oesophageal tumours are carcinomas (covered separately).

Clinical Relevance

• Webs-vs-rings is a compact, frequently tested pair: webs (upper, women, iron-deficiency-linked, Plummer-Vinson) versus rings (lower, no such associations, Schatzki’s) — the location and the anaemia link are the two facts that separate them.
• Barrett’s oesophagus is the single most important premalignant lesion in this topic — its stepwise progression (metaplasia → dysplasia → carcinoma in situ → adenocarcinoma) and the specific annual risk figure (0.5%/year) are the direct justification for endoscopic surveillance programmes.
• The sliding-vs-rolling hiatus hernia distinction matters clinically because rolling (para-oesophageal) hernias carry a real risk of strangulation despite being less common, unlike the far more frequent but usually more benign sliding type.
• Oesophageal varices, Mallory-Weiss tears, and reflux oesophagitis form a useful “upper GI bleeding differential” cluster worth holding together — they share overlapping presentations (haematemesis) but very different mechanisms (portal hypertension vs mechanical mucosal tear vs chronic acid injury), and distinguishing them changes management entirely.

• Three hiatus hernia patterns (sliding/rolling/mixed) side by side against the diaphragm
• Barrett’s oesophagus progression sequence: normal squamous → columnar metaplasia with goblet cells → dysplasia → carcinoma in situ → adenocarcinoma
• Webs (upper, women, iron-deficiency) vs rings (lower, no such link) comparison with radiological appearance

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