Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most mysterious diseases and conditions. There are thousands of rare diseases out there, but only a very small number of them have viable treatments and regularly make the news. This series is an opportunity to learn the basics about some of the diseases that almost no one hears much about or that we otherwise haven’t been able to report on very often.
Eyes front and ears open. Class is now in session.
The disease that we will be learning about today is:
Eosinophilic Esophagitis
Also known as EoE, EE, or allergic esophagitis
What is Eosinophilic Esophagitis?
- Eosinophilic Esophagitis is an allergic inflammatory condition
- Considered a chronic immune system disease
- Occurs in approximately 1 in 1000 children
- Diagnosis is often delayed because of a lack of awareness of the condition
- A chronic disease that requires ongoing monitoring and management
- Eosinophils are a special type of white blood cell
- Eosinophils help fight off certain types of infections
- Eosinophils are also involved in other conditions, including allergies
- An eosinophilic disorder may be present when eosinophils are found in high numbers in the blood or part of the body for a long period of time without a known cause
- EoE means abnormal numbers of eosinophils in the esophagus
- Eosinophils are not normally present in the esophagus
- Approximately 150,000 people in the United States are diagnosed with EoE
- A rare disease but the incidence appears to be rising
- Seasonal variation in patients with food induced EoE can be as high as 25 percent of patients
- The first case of EoE was reported in 1977 in an adult patient
- It was not until the 1990’s that it came to be recognized as a distinct clinical entity.
How Do You Get It?
- An estimated 50 percent of patients with eosinophilic esophagitis also have seasonal allergies or asthma
- Genetic factors
- Siblings have a higher risk than the general population (Some of this increased risk may be due to environmental factors)
- An increased prevalence of EoE has been reported in patients affected by hypermobile connective tissue diseases, like Marfan, Ehler-Danlos, and Loeys-Dietz Syndromes
- Several genes were found to be associated with EoE
- Genetic susceptibility elements found at 5q22 (TSLP) and 2p23 (CAPN14)
- Prevalence is higher in males than females
- Prevalence is higher in Caucasians than African-Americans and Asians
- Affects both adults and children
- Risk factors
- Living in a cold or dry climate
- A recent study reported that EoE is most prevalent in the cold and arid zones.
- May be more likely diagnosed between the spring and fall, probably because levels of pollen and other allergens are higher and people are more prone to be outdoors
- Living in a cold or dry climate
What Are The Symptoms?
- Symptoms in children can include:
- Difficulty feeding
- Vomiting
- Abdominal pain
- Difficulty swallowing (dysphagia)
- Food impaction
- No response to GERD medication
- Failure to thrive (poor growth, malnutrition and weight loss)
- Symptoms in adults include:
- Difficulty swallowing (dysphagia)
- Food impaction
- Chest pain that is often centrally located and does not respond to antacids
- Persistent heartburn
- Upper abdominal pain
- No response to gastroesophageal reflux disease (GERD) medication
- Backflow of undigested food (regurgitation)
How Is It Treated?
- A chronic disease that requires ongoing monitoring and management
- Complicated by the development of esophageal strictures which may cause food to lodge in the esophagus
- Not clear how long EoE has to exist before strictures form
- Can make eating very difficult and uncomfortable for children and adults
- The disease does not appear to impact life expectancy
- Approximately one-third of patients may be refractory to standard treatments and these patients can be very difficult to treat
- Studies show that symptoms usually recur when treatment is stopped
- With proper treatment, individuals with EoE can lead a normal life
- The goal of treatment is symptom reduction/resolution.
- In children, an additional goal is maintenance of growth and development.
- Potential treatments include pharmacologic therapy, dietary management, and mechanical dilation
- Current experimental approaches include biological treatments such as anti-IL-5 and anti-IL-13 antibodies
- Treatment team includes: Allergists, gastroenterologists, and dieticians
- Infants, patients with severe disease complicated by malnutrition, and patients who are refractory to all other treatments may be treated with elemental formulas via a feeding tube
- Dietary therapy
- Elemental diet
- The removal of all food allergens or of those based on the results of allergy testing
- A formula based diet
- Some children and adults require a feeding tube to help with these diets
- Elimination diet
- Allergy test directed or empiric “six-food elimination”
- Guidance by an allergist and/or registered dietician is typically recommended
- Elemental diet
- Pharmaceutical therapy
- Proton pump inhibitors will be tried initially but most with EoE will not respond to this treatment
- Topical corticosteroids are the most studied and used medications
- The use of corticosteroids for EoE is off-label
- Most adults are treated with oral budesonide or fluticasone
- Novel biologic agents are currently undergoing clinical investigation
- Ranitidine hydrochloride
- Esophageal dilation
- A procedure that stretches a narrowed area of the esophagus
- May be useful in patients with diagnostic findings of esophageal narrowing or strictures and clinical symptoms of partial obstruction
- May provide symptom relief for some people
- Has no effect on underlying inflammation
- Risks include mucosal tearing and perforation
Where Can I Learn More???
- Check out our cornerstone on this disease here.
- Learn more about this disease from the American Partnership for Eosinophilic Disorders.
