refractory celiac disease
Findings
No curated finding names refractory celiac disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Refractory celiac disease (RCD) is a complex autoimmune disorder much like the more common celiac disease but, unlike celiac disease, it is resistant or unresponsive to at least 12 months of treatment with a strict gluten-free diet. Gliadin, a component of the wheat storage protein gluten, together with similar proteins in barley and rye, are the villains that trigger the immune reaction in celiac disease. The diagnosis of RCD is made by exclusion, especially of any other disorder that can affect the huge number of thread-like projections that line the interior of the intestine (intestinal villi), such as intestinal lymphoma, Crohn's disease, small intestinal bacterial overgrowth or hypogammaglobulinemia.
Definition from the Mondo Disease Ontology (MONDO:0018353), read 2026-09-29. CC BY 4.0.
Features
28 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Villous atrophyHPOHP:0011473
- Obligate (100% of cases)
- Autoimmune antibody positivityHPOHP:0030057
- Very frequent (80% to 99% of cases)
- Increased HLA-DR+ CD4+ T cell proportionHPOHP:0002853
- Very frequent (80% to 99% of cases)
- Abdominal painHPOHP:0002027
- Frequent (30% to 79% of cases)
- Chronic diarrheaHPOHP:0002028
- Frequent (30% to 79% of cases)
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- Frequent (30% to 79% of cases)
Show the remaining 16
- MalnutritionHPOHP:0004395
- Frequent (30% to 79% of cases)
- Microcytic anemiaHPOHP:0001935
- Frequent (30% to 79% of cases)
- Weight lossHPOHP:0001824
- Frequent (30% to 79% of cases)
- Abnormal spleen physiologyHPOHP:0025409
- Occasional (5% to 29% of cases)
- Abnormality of the nervous systemHPOHP:0000707
- Occasional (5% to 29% of cases)
- ArthralgiaHPOHP:0002829
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
4 names
Resolves to: refractory celiac disease
- Also called
- intractable celiac sprueintractable coeliac spruerefractory CDrefractory sprue