Introduction

Have you ever experienced persistent stomach pains, nausea or unexplained weight loss, only to be told it might be a gut issue or IBS? However, for some individuals, these symptoms could signal a far less common condition – eosinophilic gastroenteritis (EGE), a rare inflammatory disorder of the gastrointestinal (GI) tract. EGE occurs when large amounts of eosinophils are involved in an allergic response and infiltrate different layers of the GI wall, resulting in chronic inflammation and tissue damage. Although this is rare, its recognition is incredibly important for people with allergies or even asthma. There is a range of symptoms presented in this syndrome, ranging from common complaints such as abdominal pain to unusual and sometimes severe manifestations such as eosinophilic ascites. Because these presentations mimic more common conditions, understanding these symptoms is crucial for timely diagnosis, efficient treatment and improved patient outcomes. If you want to know more about this disease, then you’re in the right place!

What is the pathophysiology of this disease?

The exact cause of this disease is unknown and not yet fully understood, but it is thought to be strongly associated with immune dysregulation. Eosinophils are usually rare to be seen in the GI tract, yet large numbers accumulate within the mucosal, muscular or serosal layers, causing inflammation and swelling by releasing cytotoxic proteins, cytokines and growth factors. This infiltration is often linked to food allergens or environmental triggers, which cause the stimulation of T cells such as T helper 2. Elevated levels of interleukins such as IL-4, 5 and 13 promote eosinophil activation, survival and recruitment, with this inflammation leading to structural and functional consequences. The extent to which the eosinophils infiltrate explains the range of and severity of symptoms, ranging from mild digestive issues to severe, systemic manifestations.¹

What are the common symptoms of this disease?

The majority of patients with this syndrome present with non-specific gastrointestinal complaints that can mimic other digestive issues.

• Abdominal pain – most frequently reported symptom
• Nausea and vomiting
• Diarrhoea and bloating
• Fatigue
• Anaemia
• Heartburn
• Weight loss and poor growth – nutrient absorption is also disrupted, which causes children to have slow growth and become malnourished²

What are unusual symptoms?

Unusual symptoms of this disease will depend on which GI wall layers are affected. For example, muscular involvement can cause issues such as intestinal obstruction, bowel wall thickening and can mimic other surgical emergencies. If there is involvement of the serosa, although this is rare, this can lead to eosinophilic ascites, which is a clinical feature distinguished by eosinophil-rich peritoneal fluid. Other uncommon presentations may include:

• GI bleeding
• Dysphagia
• Protein-losing enteropathy with hypoalbuminemia

Other symptoms can develop, such as anaemia from blood loss/malabsorption, skin rashes or asthma flares, showing how impactful inflammation driven by eosinophils can be to patients.²

What are diagnostic challenges?

Diagnosing this disease is particularly challenging due to how rare and non-specific the presentation is and how much overlap there is with several gastrointestinal conditions. Symptoms such as abdominal pain, diarrhoea, nausea and weight loss are common symptoms which can be mistaken for more prevalent disorders such as inflammatory bowel disease, irritable bowel syndrome or coeliac disease.⁴ A biopsy remains the gold standard for diagnosis, yet there are issues present with this, such as eosinophilic infiltration may be patchy, as well as there being no accepted threshold for eosinophils in the gut, thus complicating the diagnosis.³

EGE can also resemble many rare diseases that present with malabsorption or chronic inflammation:

• Whipple’s disease can also result in malabsorption of nutrients, as it affects the lining of the small intestine
• Refractory coeliac disease: a persistent intolerance to gluten despite dietary changes
• Mastocytosis: abnormal accumulation of mast cells in many organs such as the brain, liver and spleen.

Summary

Eosinophilic gastroenteritis (EGE) is a rare inflammatory condition with an abnormal amount of eosinophils present in the gastrointestinal tract, leading to a range of clinical manifestations. It is typically a result of immune dysregulation, such as Th2-driven responses and cytokines such as IL-4, 5 and 13 promoting the activation and recruitment of eosinophils. The structure and site of involvement are important, as EGE will present itself differently with both common and unusual symptoms. However, the most common symptoms are abdominal pain, nausea, vomiting, diarrhoea and bloating, with some also experiencing weight loss due to poor absorption leading to slow growth. Unusual symptoms include ascites, gastrointestinal bleeding, dysphagia, as well as anaemia, rashes or asthma flares. However, these common symptoms are what make diagnosing this syndrome so difficult, as the symptoms tend to overlap with other gastrointestinal disorders. Imaging and biopsies, however, are important in confirming this disease. Overall, understanding the range of symptoms as well as their diagnostic challenges is crucial for early recognition, appropriate management and improved patient outcomes.

FAQs

What is the exact cause of this disease?

The exact cause is unknown, but it mainly affects people with allergies, asthma, and eczema; it can occur in anyone.

Is it more common in males/females, and at what age?

It can affect both males and females, but it is slightly more common in males. It will usually occur between the ages of 20 and 50.

How is this disease diagnosed?

A blood sample may show elevated IgE levels. Upper endoscopy can also be used, which uses a small tube and camera to examine parts of the stomach and intestine to see signs of swelling and irritation. However, usually a biopsy is needed to confirm this by looking at the eosinophil count and if this is higher than the normal amount.

How is it treated?

Eliminating foods to which the patient is allergic is helpful in most cases. Corticosteroids have proven to be effective as well as immunosuppressive drugs.

Is it life-threatening?

It doesn’t require emergency medical attention, yet early diagnosis can prevent severe complications such as malnutrition.

What is the prognosis?

It is generally good, although some people do experience flare-ups, which can be managed with the patient’s healthcare provider working with the patient to manage and ease these symptoms. For most patients, a healthy diet and lifestyle can reduce the overall risk of the disease.