Gastroesophageal Reflux Disease (GERD) and Barrett’s Esophagus for USMLE Step 3
Definition
- Gastroesophageal Reflux Disease (GERD): A chronic condition where gastric contents reflux into the esophagus due to lower esophageal sphincter (LES) dysfunction, causing symptoms like heartburn, regurgitation, and potential esophageal damage.
- Barrett’s Esophagus: A premalignant condition resulting from chronic GERD, where normal squamous epithelium of the esophagus is replaced by columnar epithelium with intestinal metaplasia, increasing the risk of esophageal adenocarcinoma.
Pathophysiology
GERD
- LES Dysfunction: Transient relaxations or hypotension of the LES allow acid reflux into the esophagus.
- Hiatal Hernia: Structural abnormality where part of the stomach herniates through the diaphragm, promoting reflux.
- Mucosal Injury: Repeated exposure to gastric acid damages the esophageal mucosa, leading to inflammation (esophagitis), ulcerations, and possibly Barrett’s esophagus.
Barrett’s Esophagus
- Chronic Acid Exposure: Persistent reflux causes the normal squamous epithelium to be replaced by columnar epithelium with goblet cells (intestinal metaplasia), more resistant to acid.
- Progression: Barrett’s esophagus can progress to dysplasia, increasing the risk of developing esophageal adenocarcinoma.
Risk Factors
GERD
- Obesity: Increased intra-abdominal pressure promotes reflux.
- Smoking: Lowers LES tone and increases gastric acid production.
- Dietary Triggers: Fatty foods, caffeine, alcohol, and chocolate weaken the LES, exacerbating symptoms.
- Pregnancy: Increased intra-abdominal pressure and hormonal changes contribute to reflux.
Barrett’s Esophagus
- Chronic GERD: The strongest risk factor for Barrett’s esophagus.
- Male Gender and Age: More common in men over 50.
- Smoking and Obesity: Both are associated with an increased risk of Barrett’s and esophageal cancer.
Clinical Features
GERD
- Heartburn: Retrosternal burning pain, often after meals or when lying down.
- Regurgitation: Acid or food returning to the throat or mouth.
- Dysphagia: Difficulty swallowing due to esophageal inflammation or strictures.
- Atypical Symptoms: Chronic cough, hoarseness, asthma exacerbations, or non-cardiac chest pain.
Barrett’s Esophagus
- Asymptomatic: Usually discovered during evaluation for GERD; Barrett’s itself does not cause specific symptoms.
- Persistent GERD Symptoms: GERD symptoms may be more severe or long-standing.
- Alarm Symptoms: Dysphagia, weight loss, or gastrointestinal bleeding (hematemesis or melena) suggest complications like malignancy or strictures.
Diagnosis
GERD
- Clinical Diagnosis: Based on typical symptoms like heartburn and regurgitation, confirmed by response to proton pump inhibitors (PPIs).
- Endoscopy: Indicated in patients with alarm symptoms (e.g., dysphagia, weight loss) or refractory GERD. Can detect complications like esophagitis or Barrett’s esophagus.
- 24-hour pH Monitoring: Measures esophageal acid exposure and is used to confirm GERD in patients with atypical symptoms.
Barrett’s Esophagus
- Endoscopy with Biopsy: The gold standard for diagnosing Barrett’s esophagus, confirming intestinal metaplasia with goblet cells.
- Surveillance Endoscopy: Regular endoscopy is recommended for patients with Barrett’s esophagus to monitor for dysplasia or progression to adenocarcinoma.
Treatment
GERD
- Lifestyle Modifications: Weight loss, avoid trigger foods (e.g., caffeine, alcohol, fatty foods), elevate the head of the bed, and avoid lying down after meals.
- Proton Pump Inhibitors (PPIs): First-line treatment. PPIs reduce gastric acid production and heal esophagitis.
- H2-Receptor Antagonists: Used for mild or intermittent symptoms.
- Surgery (Fundoplication): Recommended for patients with refractory GERD or large hiatal hernias.
Barrett’s Esophagus
- PPI Therapy: Long-term PPI use reduces acid exposure and may prevent the progression of Barrett’s esophagus.
- Endoscopic Surveillance: Regular endoscopic evaluations with biopsies to monitor for dysplasia or cancer.
- Endoscopic Ablation: For dysplastic Barrett’s, techniques like radiofrequency ablation (RFA) or endoscopic mucosal resection (EMR) remove or destroy abnormal tissue to prevent cancer.
Complications
GERD
- Erosive Esophagitis: Inflammation leading to erosions or ulcers.
- Esophageal Strictures: Chronic inflammation causes scarring and narrowing, leading to dysphagia.
- Aspiration Pneumonia: Refluxed gastric contents may be aspirated into the lungs, leading to pneumonia.
Barrett’s Esophagus
- Esophageal Adenocarcinoma: Barrett’s esophagus significantly increases the risk of esophageal adenocarcinoma, especially if dysplasia is present.
Prevention
- GERD Management: Long-term treatment with PPIs and lifestyle changes can reduce the risk of developing Barrett’s esophagus.
- Surveillance: Regular endoscopy in Barrett’s esophagus helps detect dysplasia early and prevent progression to cancer.
Key Points
- GERD results from LES dysfunction, causing reflux of gastric contents and symptoms like heartburn and regurgitation.
- Barrett’s esophagus is a complication of chronic GERD and increases the risk of esophageal adenocarcinoma.
- Diagnosis of GERD is often clinical, but endoscopy is used for patients with alarm symptoms or refractory disease. Barrett’s esophagus is diagnosed with endoscopy and biopsy.
- Treatment of GERD includes lifestyle changes and PPIs, while Barrett’s esophagus requires endoscopic surveillance and ablation for dysplasia.
- Complications of GERD include esophagitis, strictures, and aspiration pneumonia. Barrett’s esophagus increases the risk of esophageal cancer.