What are the differential diagnoses of a hiatal hernia and how is it managed?

Differential Diagnosis of Hiatal Hernia

When evaluating a patient with suspected hiatal hernia, the key differential diagnoses include gastroesophageal reflux disease (GERD), reflux esophagitis, gastric cancer (particularly scirrhous carcinoma), esophageal strictures, lower esophageal rings, and cardiovascular conditions that can mimic hiatal hernia symptoms.

Primary Differential Diagnoses

Gastroesophageal Conditions

GERD and reflux esophagitis are the most important differentials, as hiatal hernias and GERD have an independent but interrelated pathophysiology following the "two-sphincter hypothesis" 1. The distinction matters because:

• Reflux esophagitis manifests as fine nodularity or granularity of the mucosa, erosions or ulcers, thickened longitudinal folds, inflammatory esophagogastric polyps, and scarring with strictures, sacculations, or fixed transverse folds 2
• Larger hiatal hernias (>5 cm) are associated with more severe esophagitis, with 50% developing Barrett's esophagus 3
• The size of hiatal hernia directly correlates with decreased lower esophageal sphincter pressure, weaker peristalsis, and increased acid reflux in both distal and proximal esophagus 3

Malignancy

Gastric cancer, particularly scirrhous carcinoma, must be excluded as it can present similarly to hiatal hernia:

• Scirrhous gastric carcinoma may manifest as diffuse, long-segment, or short-segment narrowing of the stomach with rigid, nondistensible walls and obliterated gastric peristalsis at fluoroscopy 2
• Fluoroscopic examination is essential for diagnosing scirrhous carcinoma because endoscopy and biopsy have poor sensitivity for this entity 2
• Look for nodular or irregular wall thickening, loss of the angle of Hiss, or ulcers associated with mass effect 2

Structural Abnormalities

• Esophageal strictures can coexist with or mimic hiatal hernia symptoms 2
• Lower esophageal rings may be detected on contrast studies 2

Cardiovascular Manifestations

Giant hiatal hernias (Type IV) can produce cardiovascular symptoms that must be differentiated from primary cardiac disease:

• Chest pain, dyspnea, and electrocardiographic changes can occur from cardiac compression by large hernias 4
• These symptoms may mimic angina or heart failure 4

Diagnostic Approach

Initial Imaging

Fluoroscopy with biphasic esophagram or upper GI series is the most appropriate initial imaging for suspected hiatal hernia 2:

• Double-contrast upper GI series has 80% sensitivity for detecting endoscopically proven esophagitis, with combined technique reaching 88% sensitivity 2
• Barium studies are superior to endoscopy for differentiating sliding hiatal hernias (Type I) from paraesophageal hernias (Type II-IV), which is critical because surgical approaches differ 2
• The American College of Surgeons mandates that all patients considered for antireflux surgery require a barium esophagram 2

Key Imaging Findings to Assess

The esophagram provides:

• Presence and size of hiatal hernia 2
• Esophageal length and strictures 2
• Presence of gastroesophageal reflux 2
• Hernia subtype classification (Types I-IV per American College of Surgeons classification) 5

Classification Context

Understanding hernia types guides differential diagnosis:

• Type I (sliding): 90% of cases, associated with GERD 5, 1
• Type II (paraesophageal): 10% of cases, gastric fundus herniation with normal GE junction position 5
• Type III: Combined features 5
• Type IV: Large hernias with additional viscera (colon, spleen), presenting with diverse cardiopulmonary symptoms 5, 4

Management Considerations

Symptomatic vs Asymptomatic

• Asymptomatic hiatal and paraesophageal hernias become symptomatic at a rate of 1% per year, making watchful waiting appropriate for asymptomatic cases 6
• Symptomatic hiatal hernias and those with confirmed reflux disease require operative repair with an anti-reflux procedure 6

Surgical Indications

Surgery should be reserved for:

• Patients with refractory symptoms 1
• Those developing complications such as recurrent bleeding, ulcerations, or strictures 1
• Symptomatic paraesophageal hernias with chest pain, dyspnea, regurgitation, recurrent pneumonia, or iron-deficiency anemia 7

Critical Pitfall

Do not confuse Type I sliding hernias with Type II-IV paraesophageal hernias, as the surgical approach differs significantly 2. Barium studies are essential for this distinction, as endoscopy alone is inadequate 2.