Giant hiatus hernia presenting as a chronic cough masking a sinister diagnosis

Abstract

We present a case of an 82-year-old gentleman with an 18-month history of productive cough. Urgent CT scan of the thorax revealed type 1 hiatus hernia (HH). The patient was managed conservatively with lifestyle modifications to help his reflux symptomology. The patient subsequently presented with acute shortness of breath and vomiting. Repeat CT scan reported a giant incarcerated HH (15 cm). Endoscopy revealed an incidental finding of a 3 cm polypoid lesion in the oesophagus at the level of the carina and histology of biopsies reported an invasive adenocarcinoma. During admission, the patient unfortunately had a hospital acquired infection and cardiac complications which prevented surgical intervention. Patients with suspected HH should be investigated thoroughly with imaging studies including chest X-ray, CT or MRI alongside oesophageal manometry and gastroscopy. Endoscopic evaluation is particularly important as these patients are at higher risk of Barrett’s oesophagus and invasive malignancy.

Background

Hiatus hernia (HH) can be defined as the abnormal protrusion of abdominal contents through the oesophageal hiatus into the mediastinal space. In clinical practice, it is most commonly referred to gastric herniation caused by weakening of the phrenoesophageal membrane.¹ The oesophageal hiatus is the only opening within the diaphragm that enters directly into the abdominal cavity, and therefore, is susceptible to dynamic pressure changes between the two cavities.² This can allow herniation of the stomach and vagus nerves into the chest when exposed to significant pressure changes. Hiatal hernias have been grossly classified into four types (I–IV) based on the anatomical defects present. Type I is the most common accounting for over 95% of cases, this is also known as a sliding HH characterised by the widening of the oesophageal hiatus with displacement of the gastro-oesophageal junction above the diaphragm.³

The incidence of HH is difficult to ascertain as the majority of individuals are asymptomatic. However, over 50% of patients presenting with oesophagitis are radiologically or endoscopically diagnosed with an HH. A recent meta-analysis estimated between 10% and 80% of individuals in North America may have a degree of HH and the incidences are predicted to increase.⁴ Key risk factors include increasing age, obesity, pregnancy, chronic cough, intra-abdominal surgery and skeletal deformities including scoliosis and kyphosis. The cardinal symptoms of HH include retrosternal burning sensation exacerbated by laying or bending, dysphagia, chronic cough and epigastric tenderness. Chronic HH is related to a number of complications including reflux oesophagitis, Barret’s oesophagus and oesophageal adenocarcinoma.⁵ These complications are characterised by chronic reflux and erosion of the oesophageal tissue exacerbated by HH.

In the UK, patients first present to primary care settings where general practitioners (GPs) obtain clinical history and examination to raise the suspicion of HH. Follow-up chest X-ray, barium studies, oesophageal manometry and endoscopy can confirm and grade the HH. The management of the majority of HH can be achieved through active lifestyle management including weight loss, smaller food portions and elevation of the head with pillows for sleep. Pharmacological intervention with proton pump inhibitors (PPI) can alleviate symptomology to aid lifestyle changes.⁶ Surgical repair of HH is indicated in patients that have symptoms refractory to lifestyle and PPI, unable to follow treatment regimens and those with respiratory complications such as asthma or chronic oesophagitis.⁷

Case presentation

We present a case of an 82-year-old male with multiple comorbidities including hypertension, hypercholesterolaemia, dementia and previous prostate and bowel malignancies. He was a non-smoker, drank little alcohol and lived an active lifestyle. He initially presented to the GP with 18 months with unresolved productive cough. He was then conservatively managed by chest physicians with a regime of short and long acting beta-2 agonists with regular follow-up to assess symptomology.

Chest X-ray performed in 2018 revealed radiographic suspicion of a significant HH with soft tissue shadowing in the thoracic cavity (figure 1). Follow-up CT scan in early 2019 confirmed presence of a large HH (figure 2). The patient did not report significant reflex symptomology and he was managed with lifestyle modifications.

Figure 1.

Chest X-ray evidence of a large hiatus hernia (late 2018). Yellow arrow indicating diameter of hiatal hernia.

Figure 2.

CT evidence of large hiatus hernia (early 2019). Yellow arrow indicating diameter of hiatal hernia.

Investigations

The patient subsequently presented with acute shortness of breath and vomiting to the emergency department in late 2019. Repeat CT scan revealed a massive HH (15 cm in maximal diameter) with subtotal inversion of the stomach in the thoracic cavity associated with distention of the oesophagus suggestive of an incarcerated HH (figure 3).

Figure 3.

CT images on admission revealing progression of gastric herniation and evidence of an incarcerated hiatus hernia. Yellow arrows indicating the herniation of gastric contents into thorax

The patient was planned to have an emergency repair of the obstructed HH under the upper gastrointestinal (UGI) surgeons. A preprocedure oesophagogastroduodenoscopy was performed to further characterise and grade the HH. An incidental finding of a 3 cm polypoid lesion was detected at the left lateral wall of the oesophagus at the level of the carina (figure 4). Biopsies were taken of this sample and the patient was discussed at the UGI multidisciplinary meeting (MDT) for review.

Figure 4.

Oesophago-gastro-duodenoscopy revealing incidental polypoid mass and hiatus hernia. (A) polypoid lesion (yellow arrow), (B) oesophagogastric junction, (C) hiatus hernia, (D) duodenum.

During the inpatient period, the patient unfortunately developed a hospital acquired infection which required intravenous antibiotics. This acute illness resulted in respiratory distress which is thought to have triggered new atrial fibrillation. Sadly on day 3 of admission, the patient experienced chest pain and was diagnosed with a non-ST elevation myocardial infarction. The amalgamation of these acute morbidities in combination of chronic mordbities meant the patient was no longer fit enough for surgical intervention.

Outcome and follow-up

Oesophageal biopsy histology reported fragments of invasive adenocarcinoma intestinal type within the highly dysplastic adenomatous polypoid lesion. The UGI MDT reviewed the patient’s imaging and histology reports, nature of the invasive adenocarcinoma and background of multiple comorbidities and previous malignancies. It was concluded that the patient should be reviewed by the care of the elderly team and discussion with the family regarding ceiling of care. Following discussions with the family, it was decided that the patient should be followed up in outpatients to make the final decision.

At the 6-week UGI outpatient clinic review, both the patient and the surgeon decided against surgical repair of the HH and opted for conservative symptomatic management. Palliative laser therapy of the lesion was offered if the patient experienced dysphagia or odynophagia. At 1-year follow-up, the patient had no further hospital admissions and was being managed symptomatically at home to maintain quality of life.

Discussion

The case we have presented highlights a patient with an 18-month history of chronic cough with a background of a large HH masking an underlying invasive oesophageal malignancy. The association between HH and oesophageal malignancy is a known entity within clinical practice and the surrounding literature.⁸ The majority of these associations are, however, related to Barret’s oesophagus and the spectrum of oesophagitis.⁹ There is a scarcity of literature with respect to polypoid oesophageal adenocarcinoma and its relation to HH. This association is of clinical importance with respect to endoscopic versus surgical management of these patients.

In the case we present, the patient had experienced a chronic productive cough for which he was under respiratory physicians. Despite two imaging modalities reporting the presence of a giant HH, the patient did not undergo endoscopic evaluation until the acute admission for oesophageal obstruction. This can be attributed to patient lacking the red flag symptoms of oesophageal cancer including dysphagia, vomiting, weight loss and UGI bleeding.¹⁰ In hindsight, it can be argued that the chronic cough was clinically correlated to the giant HH and there were no further symptoms to suggest oesophageal malignancy. A handful of previous case reports identify instances of oesophageal malignancy without the hallmark UGI symptoms.^11–13 The association of cough and oesophageal malignancy is commonly reported within the context of acquired broncho-oesophageal fistula and postoesophagectomy reflux symptoms.^{14 15}

The management of oesophageal malignancies includes a range of endoscopic and surgical options. Early-stage malignancies can be treated with endoscopic mucosal resection which can be combined with photodynamic therapy (PDT). This minimally invasive option utilises injection of a photosensitive agent into the tumour and exposure of a low-power laser that is absorbed by the tumour and results in tissue necrosis.¹⁶ A recent study has reported a 76% disease specific survival in 56 patients receiving PDT as monotherapy for oesophageal malignancy.¹⁷ However, the limitation is that it primarily maintains quality of life and prevents oesophageal obstruction and is not a curative treatment. The definitive management of oesophageal malignancy is open or laparoscopic oesophagectomy±gastrectomy.¹⁸ The National Oesophago-gastric Cancer Audit for 2019 reported patients who underwent oesophagectomy between 2016 and 2018 had a median hospital stay of 12 days and 90-day mortality of 3.8%.¹⁹

The patient we presented had a giant HH which added to the complexity of management. If the patient had a better performance status and less significant co-morbidities, a combined oesophagectomy and HH repair could have been considered. A recent study evaluated the outcomes of surgery in patients with oesophageal malignancy and an HH.²⁰ Patients with an HH >5 cm were associated with poor prognosis including incomplete resection and lymph node involvement. Neoadjuvant radiotherapy was also associated with cardiac and pulmonary toxicity in patients HH >5 cm. Since our patient had a giant HH that was >15 cm, surgical resection would have almost certainly resulted in short-term complications and poor long-term prognosis. Additionally, the median hospital stay of 12 days postsurgery poses further risks of hospital acquired infections which our patient would have a low probability of recovery.

In retrospect, it can be argued that this patient should have been referred much earlier for a gastroscopy and oesophageal manometry test to investigate the giant HH. This may have identified the oesophageal malignancy at an earlier stage that could have been managed with endoscopic resection and PDT to reduce the risk of local invasion. Oesophageal manometry could have also allowed risk stratification of the HH and potentially prevented the subsequent acute oesophageal incarceration. This acute event required hospital admission which resulted in a chest infection, new atrial fibrillation and a myocardial infarction which added to his comorbidities. These arguments are supported by the fact that he had a productive cough for 18 months with no previous smoking history and no lung malignancies apparent on the CT scan. We advocate urgent endoscopic investigation of patients with a giant HH to both characterise the disease and rule out underlying oesophageal malignancy.

Patient’s perspective.

I had been struggling with a cough for over a year and I probably shouldn’t have waited going to my GP for so long. I have previously had prostate and bowel cancers and felt drained from the treatments from those. At the back of my mind I knew this could be a lung cancer, but was surprised that it was a hiatus hernia. I was hoping that the surgical repair would help my cough but after my admission with vomiting I had a camera test in my throat which revealed a cancer. I do not wish to have any treatment for this and would like to stay comfortable at home.

Learning points.

• Hiatus hernia is the abnormal protrusion of gastric contents into the thoracic cavity which can result in oesophageal mucosal damage and increase the risk of malignancy including Barret’s and invasive adenocarcinoma.

• Hiatus hernia commonly presents with a retrosternal burning sensation, dyspepsia and chronic cough. Oesophageal malignancies primarily present with dysphagia and upper gastrointestinal symptoms. It can sometimes be difficult to distinguish between the two aetiologies.

• Patients with suspected hiatus hernia should be investigated with imaging studies including chest X-ray, CT or MRI alongside oesophageal manometry and gastroscopy. Endoscopic evaluation is particularly important as patients are at higher risk of oesophageal malignancies.

• Oesophageal malignancies that are detected early can be managed with endoscopic resection and photodynamic therapy that can reduce the risk of local invasion and spread. Oesophagectomy is the definitive management but has high risk for complications and mortality.

• Patients with a giant hiatus hernia can present with mixed symptomologies and warrant urgent gastroscopic evaluation to rule out underlying malignancy.