Overview
Primary eosinophilic gastrointestinal disease (EGID) is a group of rare conditions where a type of white blood cell called an eosinophil builds up in one or more parts of the digestive tract without another clear cause. Eosinophils are normally involved in fighting infections and allergies, but in EGID they accumulate in the walls of the esophagus, stomach, small intestine, or colon and cause inflammation and damage. The most well-known form is eosinophilic esophagitis (EoE), which affects the swallowing tube, but EGID can also involve the stomach (eosinophilic gastritis), the small bowel (eosinophilic enteritis), or the colon (eosinophilic colitis). Some patients have more than one area affected at the same time. Symptoms depend on which part of the gut is involved and can include difficulty swallowing, abdominal pain, nausea, vomiting, diarrhea, bloating, poor appetite, and weight loss. In children, failure to thrive and feeding difficulties are common. The disease can come and go, with flare-ups followed by quieter periods. Treatment typically involves dietary changes (such as eliminating certain trigger foods), corticosteroids (like budesonide or fluticasone) to reduce inflammation, and in some cases proton pump inhibitors. For eosinophilic esophagitis specifically, dupilumab (Dupixent) was approved by the FDA in 2022 as the first biologic therapy. Management is usually long-term and aims to control symptoms and prevent complications like scarring or narrowing of the digestive tract. Research into new targeted therapies is ongoing.
Also known as:
Key symptoms:
Difficulty swallowing or food getting stuckAbdominal pain or crampingNausea and vomitingDiarrhea, sometimes with bloodBloating and feeling full quicklyHeartburn or chest painPoor appetiteUnintended weight lossFailure to thrive in childrenFeeding difficulties in infantsFatigueNutritional deficienciesFluid buildup in the abdomen (ascites) in severe cases
Multifactorial
Caused by a mix of several genes and environmental factors
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
10 eventsPhathom Pharmaceuticals, Inc. — PHASE2
University of Michigan — NA
Sanofi
University of North Carolina, Chapel Hill — PHASE4
Universitaire Ziekenhuizen KU Leuven — NA
Oslo University Hospital
East and North Hertfordshire NHS Trust — NA
Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA) — NA
Eupraxia Pharmaceuticals Inc. — PHASE1, PHASE2
Children's Hospital Medical Center, Cincinnati
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Primary eosinophilic gastrointestinal disease.
20 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Primary eosinophilic gastrointestinal disease.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which parts of my digestive tract are affected, and how severe is the inflammation?,Should I try dietary elimination therapy, and if so, which foods should I remove first?,What medications do you recommend, and what are the potential side effects of long-term use?,How often will I need endoscopies to monitor my condition?,Am I a candidate for biologic therapy like dupilumab?,Are there any clinical trials I should consider?,What should I do if I have a food impaction or a sudden worsening of symptoms?
Common questions about Primary eosinophilic gastrointestinal disease
What is Primary eosinophilic gastrointestinal disease?
Primary eosinophilic gastrointestinal disease (EGID) is a group of rare conditions where a type of white blood cell called an eosinophil builds up in one or more parts of the digestive tract without another clear cause. Eosinophils are normally involved in fighting infections and allergies, but in EGID they accumulate in the walls of the esophagus, stomach, small intestine, or colon and cause inflammation and damage. The most well-known form is eosinophilic esophagitis (EoE), which affects the swallowing tube, but EGID can also involve the stomach (eosinophilic gastritis), the small bowel (eos
How is Primary eosinophilic gastrointestinal disease inherited?
Primary eosinophilic gastrointestinal disease follows a multifactorial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Are there clinical trials for Primary eosinophilic gastrointestinal disease?
Yes — 20 recruiting clinical trials are currently listed for Primary eosinophilic gastrointestinal disease on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Primary eosinophilic gastrointestinal disease?
7 specialists and care centers treating Primary eosinophilic gastrointestinal disease are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.