Esophageal disease Notes

NOTES NOTES ESOPHAGEAL DISEASE GENERALLY, WHAT IS IT? PATHOLOGY & CAUSES ▪ Pathologies of the esophagus ▪ Esophageal motility disorders ▫ Diseases interfering with correct function of esophagus’ various muscular components DIAGNOSIS ▪ Individual history/clinical features, esophagogastroduodenoscopy (EGD), barium swallow X-ray, esophageal manometry, endoscopic biopsy TREATMENT CAUSES ▪ Infections, autoimmune disease, anatomical defects, irritative processes ▪ See individual diseases SIGNS & SYMPTOMS ▪ Difficulty/pain while swallowing, especially spasm-type pain ▪ Difficulty with food regurgitation ACHALASIA osms.it/achalasia PATHOLOGY & CAUSES ▪ Esophageal smooth muscle fibres fail to relax → lower esophageal sphincter remains closed/fails to open ▪ AKA esophageal achalasia, achalasia cardiae, cardiospasm, esophageal aperistalsis ▪ Progressive degeneration of ganglion cells in myenteric plexus within esophageal wall → lower esophageal sphincter fails to relax → loss of peristalsis in distal esophagus ▪ Involves smooth muscle layer of esophageal, lower esophageal sphincters ▪ Affected individual lacks nonadrenergic, noncholinergic, inhibitory ganglion cells → imbalanced excitation and relaxation → incomplete lower esophageal sphincter relaxation, increased lower esophageal tone, lack of esophageal peristalsis CAUSES ▪ Likely caused by underlying autoimmune process triggered by previous viral infection/ genetic predisposition/ neurodegenerative disease/other infective process OSMOSIS.ORG 215

Primary achalasia (most common) ▪ No known underlying cause → failure of distal esophageal inhibitory neurons Secondary achalasia ▪ Esophageal cancer ▪ Chagas disease ▫ Protozoan infection due to Trypanosoma cruzi → loss of intramural ganglion cells → aperistalsis, incomplete lower esophageal sphincter relaxation SIGNS & SYMPTOMS ▪ Dysphagia to solids/liquids, odynophagia (rarely), heartburn unresponsive to proton pump inhibitor therapy, symptoms worsen progressivelys, regurgitation of undigested food, substernal chest pain, hiccups ▪ Weight loss ▪ Coughing while lying horizontally, aspiration of food → recurrent pulmonary complications DIAGNOSIS DIAGNOSTIC IMAGING Barium swallow X-ray and continuous fluoroscopy ▪ Normal peristalsis not seen ▪ Acute tapering at lower esophageal sphincter ▪ Narrowing of gastroesophageal junction (bird’s beak/rat’s tail appearance) ▪ Dilated esophagus above narrowing ▪ Air-fluid margin over barium column due to lack of peristalsis Esophageal endoscopy with or without endoscopic ultrasound ▪ May appear normal ▪ Unusually increased resistance to passage of endoscope through esophagogastric junction ▪ Retained food in esophagus on upper endoscopy 216 OSMOSIS.ORG Endoscopic biopsy ▪ Hypertrophic musculature ▪ Absence of specific nerve cells within myenteric plexus OTHER DIAGNOSTICS Esophageal manometry ▪ Lower esophageal sphincter fails to relax upon wet swallow (< 75% relaxation) ▪ Lower esophageal pressure ▫ Normal < 26mmHg ▫ Achalasia > 100mmHg ▫ Nutcracker achalasia > 200mmHg ▪ Aperistalsis in esophageal body ▪ Relative increase in intraesophageal pressure vs. intragastric pressure TREATMENT MEDICATIONS ▪ Calcium channel blockers for mild to moderate disease ▪ Nitrates effective before dilatation occurs ▪ Antimuscarinic agents (rarely effective) ▪ Proton pump inhibitors (after surgery/ pneumatic dilatation) to prevent reflux damage SURGERY Laparoscopic Heller myotomy ▪ Esophageal dilatation via surgical cleaving of muscle ▪ Only cut through outer muscle layers (those failing to relax), leaving inner mucosal layer intact Endoscopic myotomy ▪ Peroral endoscopic myotomy, minimally invasive → incision made through esophageal mucosa, innermost circular muscle layer divided and extended through lower esophageal sphincter, 2cm/0.8in into gastric muscle

Chapter 30 Esophageal Disease OTHER INTERVENTIONS ▪ Eat slowly, chew well, drink plenty of water with meals, avoid eating near bedtime, raise head off bed when sleeping with pillows (promotes emptying of esophagus with gravity) ▪ Avoid foods that aggravate reflux → ketchup, citrus, chocolate, caffeine Botox injection ▪ Paralyze muscle keeping lower esophageal sphincter shut (causes scarring of sphincter → may complicate later myotomy) Pneumatic dilatation ▪ Muscle fibres stretched/torn by forceful inflation of balloon placed in lower esophageal sphincter ▪ Lowers basal lower esophageal tone by disruption of muscular ring Figure 30.1 A barium swallow demonstrating the bird’s beak sign in achalasia. The proximal esophagus is dilated. BARRETT'S ESOPHAGUS osms.it/barretts-esophagus PATHOLOGY & CAUSES ▪ Premalignant condition; metaplasia of cells lining lower esophagus ▪ Normal stratified squamous epithelium → simple columnar epithelium, goblet cells (usually native to lower gastrointestinal tract) ▪ Chronic acid exposure → reflux esophagitis (chronic irritation) → metaplasia ▪ Bile acids → intestinal differentiation → promotes cancer growth TYPES ▪ If z-line and gastroesophageal junction coincide → intestinal metaplasia at gastroesophageal junction ▫ Associated with Helicobacter pylori Long-segment Barrett’s ▪ Distance between z-line and gastroesophageal junction > 3cm/1.2in ▫ Associated with more severe reflux ▫ Upright/supine reflux ▫ Significantly more likely to develop adenocarcinoma Short-segment Barrett’s ▪ Distance between z-line and gastroesophageal junction < 3cm/1.2in ▫ Greater prevalence ▫ Shorter history of heartburn ▫ Usually asymptomatic ▫ Predominantly upright reflux ▫ Less mucosa involved → lower incidence of dysplasia RISK FACTORS ▪ Bulimia ▪ Central obesity ▪ Previous chemical damage to esophageal epithelium (e.g. swallowing lye) ▪ Smoking ▪ Hiatal hernia OSMOSIS.ORG 217

COMPLICATIONS TREATMENT ▪ Esophageal adenocarcinoma SIGNS & SYMPTOMS ▪ Often asymptomatic ▪ Same as reflux, not (initial) cancerous changes ▪ Frequent, prolonged heartburn, dysphagia, hematemesis, epigastric pain, weight loss (due to painful eating) DIAGNOSIS DIAGNOSTIC IMAGING Esophagogastroduodenoscopy ▪ Fiber optic camera inserted via mouth → examine and biopsy esophagus, stomach, duodenum LAB RESULTS Biopsy ▪ Specimen from esophagogastroduodenoscopy must contain goblet cells → “intestinal metaplasia” → marker for progression of metaplasia to dysplasia → adenocarcinoma ▪ Immunohistochemical staining assists in diagnosis ▪ Biopsy classification ▫ Nondysplastic ▫ Low-grade dysplasia ▫ High-grade dysplasia ▫ Frank carcinoma OTHER DIAGNOSTICS Screening ▪ Biological males, > 60 years old, long standing reflux, life expectancy > five years ▪ Anyone with diagnosis of Barrett’s esophagus Esophageal pH studies ▪ Establish efficacy of proton pump inhibitor treatment 218 OSMOSIS.ORG MEDICATIONS Proton pump inhibitors ▪ E.g. omeprazole; manage acid reflux Chemoprevention ▪ Nondysplastic/low-grade lesion ▫ Aspirin, NSAIDS → inhibition of cyclooxygenase (COX-1 & 2) may protect against progression of disease SURGERY Treatment of dysplastic lesions ▪ Endoscopic mucosal resection, surgical removal of esophagus, radiation therapy, systemic chemotherapy OTHER INTERVENTIONS Annual endoscopic observation ▪ For nondysplastic/low-grade lesions Management of acid reflux ▪ Avoid/reduce intake of foods known to worsen reflux: chocolate, coffee, tea, peppermint, alcohol, fatty/spicy/acidic foods Treatment of dysplastic lesions ▪ Radiofrequency ablation ▫ Electrical current used to destroy small regions of tissue ▪ Spray cryotherapy ▫ Liquid nitrogen spray applied to small region of tissue → freezing → tissue death ▪ Photodynamic therapy ▫ Chemical photosensitizer → cytotoxicity when stimulated by certain frequency of light

Chapter 30 Esophageal Disease Figure 30.2 Histological appearance of the squamocolumnar junction in a case of Barrett’s esophagus. The underlying glandular epithelium contains goblet cells, indicating intestinal metaplasia. BOERHAAVE SYNDROME osms.it/boerhaave-syndrome PATHOLOGY & CAUSES ▪ Rupture through esophagus caused by increased intraesophageal pressure and negative intrathoracic pressure ▪ Vomiting / retching → unrelaxed esophagus, closed glottis → increase in esophageal pressure, slight drop in intrathoracic pressure → spontaneous rupture of esophageal wall → contamination of mediastinum with gastric contents → chemical mediastinitis ▫ Tears commonly occur at left posterolateral aspect (distal esophagus), just above esophageal hiatus of diaphragm ▫ Can be fatal without treatment → sepsis ▫ Chemical mediastinitis → mediastinal necrosis → rupture of overlying pleura → contamination of pleural cavity → pleural effusion ▫ Effort rupture of cervical esophagus → localized cervical perforation ▫ Spread of contamination slow due to attachments of esophagus to prevertebral fascia ▪ Usually occurs in anatomically normal esophagi RISK FACTORS ▪ Caustic ingestion, pill/medication esophagitis, eosinophilic esophagitis, Barrett’s esophagus, infectious ulcers, stricture dilatation OSMOSIS.ORG 219

SIGNS & SYMPTOMS ▪ Severe vomiting → profound retrosternal chest pain (may radiate to left shoulder) or abdominal pain ▫ Followed by painful swallowing (odynophagia), tachypnea, dyspnea, cyanosis, fever, shock ▪ Mackler’s triad: chest pain, vomiting, subcutaneous emphysema ▪ Hamman’s sign: crunching/rasping sound, synchronous with heartbeat: ▫ Heard over precordium, left lateral position ▫ Caused by mediastinal emphysema ▪ Cervical perforation: neck pain, difficulty swallowing (dysphagia), difficulty speaking (dysphonia), tenderness of sternocleidomastoid ▪ Intra-abdominal perforation: epigastric pain (may radiate to left shoulder), back pain, inability to lie supine, acute abdomen pain ▪ Barium sulfate common contrast material, but spillage into mediastinal and pleural spaces → inflammatory response → fibrosis Endoscopy avoided ▪ May extend tear, introduce air into mediastinum LAB RESULTS ▪ Hemoglobin and hematocrit ▪ Assess severity of initial bleeding ▪ Pleural effusion fluid may be high in amylase (saliva), low pH ▪ Leukocytosis DIAGNOSIS ▪ Non-specific symptoms → diagnostic delay, poor outcome ▪ Physical examination often unhelpful; history important DIAGNOSTIC IMAGING Chest X-ray ▪ Early: free mediastinal air ▪ Hours to days later: pleural effusion, pneumothorax, widened mediastinum, subcutaneous emphysema Chest CT scan ▪ Esophageal wall edema/thickening, extraesophageal air, periesophageal fluid, mediastinal widening, pneumothorax Fluoroscopy ▪ Water soluble contrast (gastrografin) esophagram → location and extent of extravasation of contrast 220 OSMOSIS.ORG Figure 30.3 A contrast swallow in an individual with Boerhaave’s syndrome. The contrast has leaked into and accumulated in the thoracic cavity.

Chapter 30 Esophageal Disease TREATMENT MEDICATIONS ▪ IV proton pump inhibitor → reduce acidity, irritation ▪ Prophylactic antibiotic therapy SURGERY ▪ Debride infected/necrotic tissue, repair defect/resection of defect/diversion OTHER INTERVENTIONS ▪ Parenteral/enteral ( jejunostomy/PEG tube) nutritional support DIFFUSE ESOPHAGEAL SPASM osms.it/esophageal-spasm PATHOLOGY & CAUSES ▪ Esophageal motility disorder characterized by repetitive, non-peristaltic, spontaneous contractions of the distal esophageal smooth muscle ▪ Sphincter function = normal CAUSES ▪ Cause relatively unknown ▪ Uncontrolled brain signals and extremely hot/cold beverages can trigger disease COMPLICATIONS ▪ Leads to difficulty swallowing, impaired advancement of food and/or regurgitation SIGNS & SYMPTOMS ▪ Intermittent dysphagia ▪ Atypical chest pain that mimics cardiac chest pain; may radiate to jaw, arms, back ▪ Food regurgitation relatively uncommon DIAGNOSIS DIAGNOSTIC IMAGING Barium swallow x-ray (upper GI) ▪ “Corkscrew” appearance is characteristic Endoscopy ▪ Exclude heart disease, mechanical intraluminal obstruction OTHER DIAGNOSTICS 24-hour esophageal manometry ▪ Shows uncoordinated esophageal contractions of normal amplitude TREATMENT ▪ No cure MEDICATIONS ▪ Nitrates, calcium channel blockers, and/ or botulinum toxin injections to lower esophageal muscle; used to decrease spasms ▪ Antidepressants, anti-anxiety medications SURGERY ▪ Surgical esophagomyotomy rarely considered OSMOSIS.ORG 221

GASTROESOPHAGEAL REFLUX DISEASE (GERD) osms.it/gastroesophageal-reflux PATHOLOGY & CAUSES ▪ AKA acid reflux ▪ Failure of lower esophageal sphincter → poor closure/inappropriate relaxation (poor tone) of lower esophageal sphincter → stomach contents re-enter esophagus ▪ Commonly associated with decreased esophageal motility, gastric outlet obstruction, hiatal hernia RISK FACTORS ▪ Obesity, pregnancy, smoking, hiatal hernia ▪ Medications ▫ Antihistamines, calcium channel blockers, antidepressants, hypnotics, glucocorticoids ▪ Zollinger–Ellison syndrome, high blood calcium (increased gastrin production), scleroderma/systemic sclerosis (esophageal dysmotility) ▪ Visceroptosis COMPLICATIONS ▪ Esophagitis, esophageal strictures, Barrett’s esophagus (premalignant condition), esophageal adenocarcinoma, laryngitis, chronic cough, pulmonary fibrosis, earache, asthma, recurrent pneumonia SIGNS & SYMPTOMS ▪ Acid taste in mouth, heartburn, retrosternal chest pain, early satiety, regurgitation, odynophagia, increased salivation, postprandial nausea and vomiting, sore throat, sensation of lump in throat, coughing, wheezing 222 OSMOSIS.ORG ▫ Often felt shortly after eating meals (worse after large meals/when lying down) ▪ Halitosis, tooth decay DIAGNOSIS ▪ Can be diagnosed based on clinical symptoms, history alone DIAGNOSTIC IMAGING Endoscopy ▪ Used when therapeutic response poor/ concerning symptoms present (dysphagia, anemia, blood in stool, wheezing, weight loss, voice changes) Upper GI series X-rays with barium contrast ▪ Useful to identify complications ▪ Early stages of reflux esophagitis: granular nodular appearance of mucosa in distal third of esophagus with numerous illdefined 1–3mm lucencies ▪ Shallow ulcers and erosions ▫ Collections of barium in distal esophagus near gastroesophageal junction ▫ Identify stricture (tapered area of concentric narrowing in distal esophagus) LAB RESULTS ▪ 24-hour esophageal pH monitoring in lower esophagus

Chapter 30 Esophageal Disease Biopsy ▪ Edema, basal hyperplasia (non-specific inflammation) ▪ Lymphocytic inflammation (non-specific) ▪ Neutrophilic inflammation (reflux/ Helicobacter gastritis) ▪ Eosinophilic inflammation (usually reflux, if > 20 eosinophils per high-power field extending beyond distal esophagus, more like eosinophilic esophagitis) ▪ Elongation of papillae ▪ Goblet cell intestinal metaplasia ▪ Thinning of squamous cell layer ▪ Dysplasia ▪ Carcinoma OTHER DIAGNOSTICS ▪ Esophageal manometry (excludes motility disorder) ▪ Short term trial of proton-pump inhibitors Figure 30.4 The histological appearance of the squamous-lined esophagus in a case of reflux. The papillae become elongated and there is overgrowth of the basal cells (darker blue) known as basal cell hyperplasia. TREATMENT MEDICATIONS ▪ Antacids neutralise acidity of gastric secretions ▪ H2 receptor blockers decrease acidification of gastric secretions ▪ Proton pump inhibitors decrease acidification of gastric secretions ▪ Prokinetics strengthen lower esophageal sphincter (LES), causing stomach contents to empty faster ▪ Baclofen (GABAB agonist) ▫ Inhibits transient LES relaxations, particularly in postprandial period ▫ Modestly effective, but rarely used due to frequent dosing requirements Figure 30.5 A contrast X-ray demonstrating gastroesophageal reflux. The contrast medium was injected percutaneously into the stomach and has migrated into the esophagus. Surface agents and alginates ▪ Sucralfate (aluminium sucrose sulfate) ▫ Adheres to mucosal surface → promotes healing, protects from peptic injury ▪ Sodium alginate ▫ Polysaccharide derived from seaweed → forms a viscous gum that floats within stomach → reduced postprandial acid pocket in proximal stomach OSMOSIS.ORG 223

SURGERY Nissen fundoplication ▪ Upper part of stomach wrapped around lower esophageal sphincter → strengthens sphincter, prevents acid reflux Transoral incisionless fundoplication ▪ Similar procedure to Nissen fundoplication, performed transorally with endoscope LINX reflux management system ▪ Titanium beads with magnetic cores wrapped around weak native lower esophageal sphincter → attractive force between beads closing sphincter → force of peristaltic wave of caused by swallowing can transiently open beads Figure 30.6 An endoscopic view of an esophageal stricture, a potential consequence of severe, long-standing reflux. OTHER INTERVENTIONS Lifestyle modifications ▪ Avoid lying down within three hours after eating, wedge pillow when sleeping to elevate head, weight loss, avoid certain foods (coffee, alcohol, chocolate, fatty/ acidic/spicy foods), smoking cessation, moderate exercise MALLORY–WEISS SYNDROME osms.it/mallory-weiss PATHOLOGY & CAUSES ▪ Severe vomiting → sudden increase in intra-abdominal pressure → partial thickness laceration at gastroesophageal junction → bleeding from mucosa ▪ Also called gastroesophageal laceration syndrome ▪ Laceration known as “Mallory–Weiss tear”, involves mucosa and submucosa, not muscular layer 224 OSMOSIS.ORG CAUSES ▪ Vomiting, straining, coughing, seizures, blunt abdominal injury, nasogastric tube placement, gastroscopy RISK FACTORS ▪ Alcoholism, bulimia, food poisoning, hiatal hernia, NSAID abuse, biological male sex (80%), hyperemesis gravidarum (severe morning sickness in pregnancy)

Chapter 30 Esophageal Disease SIGNS & SYMPTOMS TREATMENT ▪ Hematemesis after episode of violent retching/vomiting ▪ Melena ▪ Bleeding associated symptoms may cease after 24–48 hours ▪ Epigastric, back pain ▪ Signs of hemodynamic instability ▫ Resting tachycardia, hypotension ▪ In absence of comorbidities (esp. portal vein hypertension), significant healing occurs in first 24–48 hours DIAGNOSIS DIAGNOSTIC IMAGING Endoscopy ▪ Tears appear as red longitudinal breaks in mucosa, may be covered by clot LAB RESULTS ▪ Hemoglobin, hematocrit (assess severity of initial bleeding) MEDICATIONS Supportive (persistent bleeding uncommon) ▪ Acid suppression ▫ IV proton pump inhibitor ▪ If nausea and vomiting persistent ▫ Antiemetics SURGERY Endoscopy (for spurting/oozing tears) ▪ Cauterization, hemoclips (hemostasis of small defects), endoscopic band ligation (with or without epinephrine injection), arterial embolization Figure 30.7 Endoscopic appearance of a Mallory-Weiss tear. OSMOSIS.ORG 225

PLUMMER–VINSON SYNDROME osms.it/plummer-vinson PATHOLOGY & CAUSES ▪ Triad of iron deficiency anemia, dysphagia, cervical esophageal web ▪ AKA Paterson–Brown–Kelly syndrome, sideropenic dysphagia ▪ Premalignant disease CAUSES ▪ Exact cause unknown, likely connected to genetic factors, nutritional deficiencies RISK FACTORS ▪ Postmenopause COMPLICATIONS ▪ Esophageal/pharyngeal squamous cell carcinoma DIAGNOSTIC IMAGING Barium esophagography, videofluoroscopy, esophagogastroduodenoscopy ▪ Esophageal web LAB RESULTS ▪ Anemia ▫ Complete blood cell count, peripheral blood smear, iron study TREATMENT MEDICATIONS ▪ Iron supplementation, folate, vitamin B12 → correct iron deficiency anemia SURGERY ▪ Mechanical widening of esophagus SIGNS & SYMPTOMS ▪ Esophageal signs and symptoms ▫ Esophageal webs, difficult/painful swallowing, Plummer–Vinson syndrome at upper end of esophagus, Schatzki ring lower end of esophagus ▪ Iron deficiency signs and symptoms ▫ Glossitis, cheilosis, angular stomatitis, koilonychia, splenomegaly, dizziness, pallor, dyspnea DIAGNOSIS ▪ Presence of esophageal web in individual with iron deficiency anemia 226 OSMOSIS.ORG Figure 30.8 An endoscopic view of an esophageal web which is usually associated with Plummer-Vinson syndrome.

Chapter 30 Esophageal Disease ZENKER'S DIVERTICULUM osms.it/zenkers PATHOLOGY & CAUSES ▪ Diverticulum (outpouching) of pharyngeal mucosa through Killian’s triangle (area of muscular weakness), between transverse fibres of cricopharyngeus muscle and oblique fibres of lower inferior constrictor muscle ▪ AKA pharyngoesophageal diverticulum, pharyngeal pouch, hypopharyngeal diverticulum ▪ Pseudodiverticulum ▫ Does not involve all layers of esophageal wall → contains mucosa, submucosa CAUSES ▪ Uncoordinated swallowing, impaired relaxation and swallowing, impaired relaxation and spasm of cricopharyngeus muscle → increased pressures in distal pharynx → excessive lower pharyngeal pressures → diverticulum formation CT scan with oral contrast ▪ Distinct outpouching visible TREATMENT ▪ Small/asymptomatic diverticula do not require treatment SURGERY ▪ Neck surgery → cricopharyngeal myotomy, diverticulopexy OTHER INTERVENTIONS ▪ Non-surgical endoscopic technique ▪ Endoscopic stapling ▪ Endoscopic laser RISK FACTORS ▪ Biological male > 60 years old SIGNS & SYMPTOMS ▪ May be asymptomatic ▪ Difficulty swallowing, sense of lump in throat, cervical webs ▪ Food trapping ▫ Regurgitation, cough, halitosis, infection DIAGNOSIS DIAGNOSTIC IMAGING Barium swallow ▪ Distinct outpouching visible Upper gastrointestinal endoscopy ▪ Pouch visualized Figure 30.9 A barium swallow demonstrating a Zenker’s diverticulum, outlined on the right of the image. OSMOSIS.ORG 227