Disorders of the Esophagus and the Stomach

Congenital diaphragmatic hernias are embryologically derived defects in the diaphragm through which abdominal structures can pass into the chest cavity. The presence of intestines and intra-abdominal organs in the chest interferes with embryonic development of the lungs, which is the major cause of pathology postnatally. Prenatal diagnosis is commonly made by ultrasound during pregnancy followed by confirmation on chest X-ray after birth. Immediate respiratory resuscitation at birth with endotracheal intubation and mechanical ventilation are required. Surgical repair is the only curative option. Prognosis varies, but children with diaphragmatic hernias usually suffer from lifelong pulmonary complications.

Dysphagia is the subjective sensation of difficulty swallowing. Symptoms can range from a complete inability to swallow, to the sensation of solids or liquids becoming “stuck.” Dysphagia is classified as either oropharyngeal or esophageal, with esophageal dysphagia having 2 sub-types: functional and mechanical. Common causes of functional dysphagia include achalasia, scleroderma, and diffuse esophageal spasm (DES). Mechanical causes of dysphagia include esophageal rings, webs, strictures, and cancer. Oropharyngeal dysphagia may be due to structural abnormalities or abnormal neuromuscular function and coordination. The diagnostic workup depends on the patient’s presenting symptoms, but may include manometry, barium esophagram, or direct visualization with nasopharyngeal laryngoscopy or endoscopy. Treatment varies depending on the underlying cause.

Barrett’s esophagus is a chronic gastroesophageal reflux disease (GERD) that leads to the replacement of stratified squamous epithelium with gastric columnar epithelium in the esophagus. The condition is associated with an increased risk of esophageal adenocarcinoma. Workup includes an esophagogastroduodenoscopy (EGD) showing proximal displacement of the squamocolumnar junction (Z-line) from the gastroesophageal junction (GEJ). Biopsies will confirm the diagnosis by revealing columnar epithelium and goblet cells in the distal esophagus. Treatment is primarily with proton pump inhibitors (PPIs) and lifestyle modifications. Surveillance with repeated EGD and biopsy is necessary to monitor for early signs of dysplasia.

Gastroesophageal reflux disease (GERD) occurs when the stomach acid frequently flows back into the esophagus. This backwash (acid reflux) can irritate the lining of the esophagus, causing symptoms such as retrosternal burning pain (heartburn). This condition may eventually lead to inflammation (esophagitis), metaplasia (Barrett’s esophagus), and progression to esophageal cancer. Uncomplicated GERD can be managed with lifestyle changes and over-the-counter medications. Sometimes, however, stronger medications or surgery may be required to ease symptoms and prevent complications.

Esophagitis is the inflammation or irritation of the esophagus. The major types of esophagitis are medication-induced, infectious, eosinophilic, corrosive, and acid reflux. Patients typically present with odynophagia, dysphagia, and retrosternal chest pain. Diagnosis is by endoscopy and biopsy. Laboratory tests and imaging are obtained, depending on the degree of damage and involvement of other organ systems. Treatment for esophagitis depends on the underlying etiology and includes dietary changes, avoidance of offending agents, antibiotic therapy, or proton pump inhibitor use. In severe cases such as in corrosive injury, surgery may need to be performed. If left untreated, esophagitis can lead to complications such as strictures, metaplasia of the esophagus, and development of malignancy.

Peptic ulcer disease (PUD) refers to the full-thickness ulcerations of duodenal or gastric mucosa. The ulcerations form when exposure to acid and digestive enzymes overcomes mucosal defense mechanisms. The most common etiologies include Helicobacter pylori (H. pylori) infection and prolonged use of non-steroidal anti-inflammatory drugs (NSAIDs). Patients may be asymptomatic or may present with abdominal pain, nausea, and early satiety. Peptic ulcer disease typically responds well to medical treatment consisting of H. pylori eradication, eliminating risk factors, and proton pump inhibitors (PPIs). If left untreated, it can lead to bleeding, perforation, gastric outlet obstruction, and gastric cancer.

Gastritis refers to inflammation of the gastric mucosa. Gastritis may occur suddenly (acute gastritis) or slowly over time (chronic gastritis). Gastritis may be asymptomatic or with symptoms, including burning abdominal pain (which either worsens or improves with eating), dyspepsia, nausea, and vomiting. The most common etiologies for gastritis are Helicobacter pylori infection and autoimmune disease. Chronic gastritis is a risk factor for gastric cancer. Management involves the use of proton pump inhibitors with antibiotics (in case of H. pylori infection), avoidance of offending agents, and replacement of associated deficiencies.

Gastric cancer is the 3rd-most common cause of cancer-related deaths worldwide. The majority of cases are from adenocarcinoma. The modifiable risk factors include Helicobacter pylori infection, smoking, and nitrate-rich diets. Hereditary syndromes, pernicious anemia, and prior partial gastrectomy are among the endogenous risk factors. When symptoms such as epigastric fullness, vomiting, and weight loss occur, it is likely that the cancer is in the advanced stage. Diagnosis is confirmed with esophagogastroduodenoscopy and biopsy. Imaging studies and laparoscopy aid in determining the cancer stage. Consequently, staging dictates the management approach. Management consists of gastrectomy and chemoradiotherapy. Most cases are diagnosed in late stages, indicating a generally poor prognosis.

Esophageal cancer is 1 of the most common causes of cancer-related deaths worldwide. Nearly all esophageal cancers are either adenocarcinoma (commonly affecting the distal esophagus) or squamous cell carcinoma (affecting the proximal two-thirds of the esophagus). Major risk factors for adenocarcinoma include smoking, obesity, and Barrett’s esophagus. For squamous cell carcinoma, risk factors include smoking, alcohol consumption, and certain dietary factors. Early-stage cancer is often asymptomatic, with dysphagia and weight loss presenting as the disease progresses. Diagnosis is by endoscopic biopsy or image-guided biopsy of the metastatic site. Management depends on the disease stage. Options include surgical resection, chemotherapy, and radiation. For unresectable esophageal cancers, palliative measures are provided for symptom relief and to prolong survival.

Achalasia is a primary esophageal motility disorder that develops from the degeneration of the myenteric plexus. This condition results in impaired lower esophageal sphincter relaxation and absence of normal esophageal peristalsis. Patients typically present with dysphagia to solids and liquids along with regurgitation. Diagnosis is established by high-resolution manometry. To rule out malignancy as a cause of achalasia, upper endoscopy is performed. Barium swallow study helps evaluate the esophageal morphology. Management options include pneumatic balloon dilation, surgical myotomy, and botulinum toxin injection. Choice of treatment is dependent on the type of achalasia and surgical risk. Medications are available for those who fail initial intervention; however, they provide the least benefit.