The exact etiology causing the attenuation of the phrenoesophageal ligament remains unknown. There is a familial occurrence suggesting an autosomal-dominant pattern of inheritance and congenital (primary) paraesophageal hernias have been described in children. However, paraesophageal hernias typically present in old age, suggesting the fibromuscular degeneration of this ligament as the most common pathologic etiology [1–5]. This deterioration involves the thinning of the upper facial layer and loss of elasticity of the lower facial layer of this ligament. This results in the membrane stretching up into the posterior mediastinum with increased intra-abdominal pressure. Factors that are known to increase intra-abdominal pressure have also been associated with the development of hiatal hernias to include obesity, kyphosis in elderly women, and pregnancy [6–9]. Studies on the influence of gender have yielded contradictory results [9].

Once the stomach or other abdominal contents enter the hiatus, incarceration and strangulation with subsequent perforation into the mediastinum may occur. Abdominal contents may volumetrically displace contents in the inferior chest and mediastinum resulting in respiratory embarrassment [10]. Vascular engorgement of the gastric wall may also occur resulting in severe upper gastrointestinal hemorrhage. Gastric volvulus occurs when there is an abnormal rotation of the stomach of at least 180 degrees, thereby creating a closed loop obstruction. It is most common for the stomach to rotate around the longitudinal axis that connects the GE junction and the pylorus. When this occurs, the greater curvature of the stomach flips up into the chest, dragging the omentum with it. This situation is defined as an organoaxial volvulus. A less common variant is the mesenteroaxial volvulus, which occurs when the rotation is around the axis that runs from the greater curvature to the gastric angulus.

Because the majority of patients are asymptomatic, the true incidence of hiatal hernias remains unknown. While type I hernias are thought to be relatively common, types II–IV account for only approximately 5% of all hiatal hernias [11]. Of those with paraesophageal hernias, the annual incidence of acute symptoms is 0.7–7%, with an annual probability of needing emergency surgery of approximately 1% [12]; however, the overall chance of developing acute symptoms and incarceration is approximately 30% [11, 12]. In a 15-year Finnish population-based study, the annual rate of hospital admission for patients with paraesophageal hernia was 8.2/1,000,000 with an annual mortality of only 0.6/1,000,000 [13]. Of those patients who underwent operative treatment the mortality was 2.7%, whereas it was 10% for those presenting with a gangrenous stomach [13]. Given the pathophysiologic mechanisms described above, it is not surprising that patients presenting with paraesophageal hernias are typically older (60–90 years) and have multiple other co-morbidities.

Acute incarceration of a paraesophageal hernia may occur suddenly against a background of nonspecific complaints such as postprandial discomfort or dyspepsia. Precipitating events are typically related to either the ingestion of a large meal or those which increased intra-abdominal pressure such as ileus, pregnancy, or parturition. On abdominal examination, patients have little epigastric tenderness and overall have no significant findings.

The classic constellation of symptoms of incarcerated paraesophageal hernia, referred to as Borchardt’s triad, consists of chest pain, retching with an inability to vomit, and inability to pass a nasogastric tube. The chest pain is typically substernal and is caused by acute gastric obstruction, which if left untreated will progress to ischemia followed by perforation into the mediastinum leading to septic shock and ultimately death [14]. Acute presentations may also be atypical, leading to diagnostic confusion. Symptoms including the acute onset of respiratory collapse due to a grossly contaminated thoracic cavity, heart failure, perforation into adjacent organs, large-volume upper gastrointestinal hemorrhage, and tension gastrothorax have also been described [15–18].

While it is of paramount importance for an acute care surgeon to recognize the presentation of incarcerated paraesophageal hernias, these same surgeons are also frequently called upon to evaluate vague abdominal complaints. Although it is estimated that 50% of these hernias are asymptomatic, subtle findings may suggest either a chronic or subacute presentation [14]. Further complicating the subacute presentation of a paraesophageal hernia is the advanced age and associated co-morbidities of this patient population. For example, iron deficiency anemia in this population may have a multitude of other causes, of which chronic blood loss from Cameron ulcers, chronic linear lesions resulting from diaphragmatic shear forces in patients with paraesophageal hernias, would rank toward the bottom of the list [19–21]. After hernia repair, the anemia resolves in more than 90% of patients [21].

Symptoms may also be misattributed to the normal aging process. Increasing dyspnea developing over years is a common symptom in patients with paraesophageal hernias; however, in a population of elderly patients this cause may be overlooked. However, following hernia repair most patients note significant improvement in these symptoms, exercise capacity, as well as objective pulmonary function testing [22].

Chronic symptoms can be divided into two broad categories: obstructive and those related to gastroesophageal reflux disease (GERD). Gastroesophageal reflux-type symptoms are due to a dysfunctional lower esophageal sphincter and are manifest as heartburn, chronic cough, regurgitation of partially digested food, and aspiration. These symptoms predominate in patients with type 1 hiatal hernias. Those with type III hernias may also present with GERD symptoms by virtue of the fact that this type mixes the characteristics of both type I and type II [23]. Patients may also describe GERD symptoms that are supplanted by more obstructive symptoms.

Obstructive symptoms are most prominent in those patients with type II, III, and IV paraesophageal hernias. These hernias cause an outflow restriction at the hiatus when the cardia distends compressing the distal esophagus or by torsion of the GE junction as the stomach displaces into the chest [16]. Symptoms include epigastric pain, postprandial fullness or bloating, chest pain, dysphagia, and respiratory complaints. Of these, dysphagia and postprandial discomfort are most common, occurring in more than 50% of symptomatic patients [12].

The evaluation of a patient with a suspected paraesophageal hernia depends on the acuity of the presentation. Because of the vague and variable presentation of these hernias, the goal of the diagnostic evaluation is to confirm or refute the diagnosis, define the anatomy, rule out associated pathologic processes, and determine the presence or the absence of GERD. Given that the acute care surgeon is most likely to encounter these patients when in crisis, it is important to simultaneously perform both diagnostic and resuscitative measures so that if surgery is required, the patient can tolerate induction and a general anesthetic without physiologic compromise [24].

Traditionally, paraesophageal hernias were diagnosed via an upright chest radiograph, revealing an air-fluid level behind the cardiac shadow. Radiographs may also reveal evidence of ischemia of the gastric wall or perforation manifested as pneumomediastinum or pneumoperitoneum. By enlarge, computed tomography (CT) scans have replaced plain radiographs as they provide greater detail and are now easily obtained in most hospitals. Computed tomography not only provides similar information as seen on radiographs, but it also provides additional anatomic information as to the type and location of the hernia. In a patient who presents in extremis, with the appropriate radiographic findings, no additional diagnostic studies are needed.

If clinically appropriate, the next most appropriate diagnostic test is an upper gastrointestinal series [24]. This contrast study provides important information as to the anatomic location of the esophagus, GE junction, and stomach, and may suggest the size of the diaphragmatic defect. Additionally, complete obstruction due to a gastric volvulus or occult perforation may be identified. Currently, this study is considered the gold standard for the diagnosis of paraesophageal hernias. Similarly a contrast CT scan may be used in a similar manner and provide the detail needed to plan an operative intervention.

Upper endoscopy provides useful information in diagnosing paraesophageal hernias, and most importantly, rules out concomitant pathology while defining the anatomy of the hernia. The most pertinent finding on endoscopy is the status of the gastric mucosa. If ischemia is present, the operative approach may change from laparoscopic to open. When evaluating anatomic relationships, type 1 hernias can be confirmed by finding the GE junction and gastric pouch above the impression made by the diaphragmatic crura, whereas with type II hernias, retroversion of the scope will demonstrate a second gastric orifice where the stomach has herniated alongside the GE junction and distal esophagus. Upper endoscopy in type III hernias may have difficulty in differentiating from type I hernias; however, it may be suspected if a large gastric pouch is seen above the diaphragm with the GE junction entering midway along the side of the gastric pouch [24]. When performing an upper endoscopy, care needs to be taken to avoid overinflation of the stomach to reduce the risk of cardiopulmonary compromise.

While not appropriate in patients with an urgent indication for surgery, in the more chronic setting, the use of manometry in the workup of paraesophageal hernias is controversial. Proponents of manometry argue that it provides additional information regarding the location of the lower esophageal sphincter and the possible need for an esophageal lengthening procedure. Those who argue against the routine use of manometry note that it adds little information to that provided by endoscopy and contrast upper GI series. Manometry is also technically difficult in patients with paraesophageal hernias and is unable to be completed in more than 50% of patients [24]. Due to the fact that most surgeons routinely perform a fundoplication procedure as part of the hernia repair, pH testing has been virtually eliminated from the preoperative examination of these patients, so obtaining this information does not alter the planned operation.

The goals in diagnostic evaluation of a patient for paraesophageal hernia are to first confirm the diagnosis, secondarily define the hernia’s anatomy, and finally rule out associated or concurrent pathology. The acuity of the patient dictates if additional evaluation may be undertaken, or if an emergent operation must be pursued.

The optimal management of paraesophageal hernias is less well defined. Controversial issues include:

While it is unlikely that an acute care surgeon would be required to manage a type I hernia, the mere presence of a paraesophageal hernia (types II, III, and IV) has traditionally been considered an indication for surgical repair. This view is based on the catastrophic complications of bleeding, infarction, and perforation that occur as the natural progression of these hernias. Clearly, patients with paraesophageal hernias who present with evidence of gastric volvulus, acute obstruction, ischemia, bleeding, or perforation require immediate surgical intervention [24, 25]. However the management of asymptomatic or minimally symptomatic patients with paraesophageal hernias is controversial. In their classic report, Belsey and Skinner found that nearly 30% (6 of 21) of patients with minimal symptoms whose paraesophageal hernias were managed non-operatively died and these deaths occurred without warning [12]. If surgery was delayed and was later required on an emergent basis, the operative mortality was 19% compared to 1% for elective repair [12]. While these findings are significant, advances in surgical critical care and the overall improved health of the elderly have altered this mandate. In a series of 23 patients who refused to undergo surgery and were followed for 78 months, there were no deaths and 83% of these patients had no change in their symptoms [25]. In another study with 15-year follow-up, elective hernia repair would have prevented only 12.5% of deaths [26]. Unfortunately, studies investigating the natural history of paraesophageal hernias consist of very small number of patients and are further limited by occurring over many years, during which other medical advances have occurred.

Further complicating this picture is the evolving experience with laparoscopy [27–30]. The general perception that laparoscopic repairs are associated with less pain and a more rapid recovery has provided additional impetus for those who favor an aggressive surgical approach [27]. However, laparoscopic repairs are often more difficult than open repairs, particularly for type III hernias. Additionally there is an evolving body of evidence that laparoscopic repairs are associated with a higher recurrence rate, up to 42% [28].

When patients present with clear evidence of gastric compromise or perforation, it is obviously prudent to proceed with open surgery [26]. For other patients with paraesophageal hernias, there are presently no concrete guidelines as to the timing of surgery, type of procedure to perform, or what should be done in the instance of a recurrence [24]. Given the limitations of the current literature, Fig. 16.2 provides a management algorithm, based on that described by Bawahab et al. [31]. If and when an operation is untaken, the fundamental steps remain the same, regardless of a laparoscopic or open approach.

Traditionally paraesophageal hernia repairs were performed through a thoracotomy or laparotomy. Advocates of the thoracic approach cited the ease of dissecting the contents of the hernia sac and the enhanced ability to fully mobilize the esophagus, thereby decreasing the need for an esophageal lengthening procedure. The major disadvantages of this approach were increased pain, the risk of pulmonary complications, and the need for a thoracostomy tube. There was also a potential risk of gastric volvulus occurring after the stomach was replaced into the abdomen.