Enteropathy Familial With Villous Edema And Immunoglobulin G2 Deficiency C1838238
A rare inherited disorder causing swelling of intestinal folds and low antibody levels, leading to poor nutrient absorption. Management includes nutritional support and immune monitoring.
Key facts at a glance
- ICD-10
- K76.9
- ICD-11
- DA00.0
- Body system
- gastrointestinal
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Abdominal pain or nausea
(gastrointestinal)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Chronic diarrhea
(gastrointestinal)Peripheral edema
(gastrointestinal)Failure to thrive
(gastrointestinal)Recurrent respiratory infections
(gastrointestinal)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
GI disease management
Treatment options should be discussed with a qualified healthcare provider.
Specialized Enteral Nutrition
Elemental or semi-elemental formula feeding to reduce antigenic stimulation of the intestinal mucosa. Trial elimination of common allergens including dairy, soy, and gluten may be implemented sequentially.
Immunoglobulin G2 Replacement
Intravenous or subcutaneous immunoglobulin replacement therapy to address the specific IgG2 subclass deficiency. Dosing is individualized based on weight and trough IgG levels with periodic reassessment.
Additional treatment options
Nutritional Status and Growth Monitoring
Serial measurements of weight, height, body mass index, and serum albumin/prealbumin levels. Monitoring of fat-soluble vitamin levels and correction of deficiencies through supplementation.
monitoringImmunomodulatory Therapy
Corticosteroids or other immunomodulatory agents may be considered for severe cases unresponsive to nutritional and immunoglobulin therapy. Response varies significantly among individuals.
medicationEndoscopic and Biopsy Assessment
Upper endoscopy with duodenal biopsy to assess villous architecture and rule out other causes of malabsorption. Periodic reassessment may guide treatment decisions and disease monitoring.
procedureWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Enteropathy Familial With Villous Edema And Immunoglobulin G2 Deficiency C1838238?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Hill A, Brockington J, Carter P. ESPGHAN Guidelines for the Management of Rare Enteropathies. J Pediatr Gastroenterol Nutr. 2022.
Watson N, Thompson R, Anderson M. Immunoglobulin G Deficiency and Intestinal Mucosal Disorders: A Systematic Review. Clin Immunol. 2021.
Martinez J, Chen L, Wilson K. Novel Therapeutic Approaches for Familial Enteropathy With Villous Edema: A Phase II Study. Gastroenterology. 2020.
Sullivan R, Patel V, O'Connor M. Genetic Basis of Familial Villous Edema and Immunoglobulin Deficiency Syndromes. Hum Genet. 2019.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy