Celiac Disease and Cryopyrinopathy in a Child
Author Information
Author(s): Shaker Marcus, Edwards Susan, Chionuma Henry, Shamansky Eric, Hoffman Hal M
Primary Institution: Dartmouth-Hitchcock Medical Center
Hypothesis
Is there an association between celiac disease and cryopyrin-associated autoinflammatory disorders?
Conclusion
The case suggests a possible association between celiac disease and cryopyrinopathy, although the co-occurrence may be coincidental.
Supporting Evidence
- The child presented with recurrent fevers and gastrointestinal symptoms.
- Genetic testing revealed a mutation associated with cryopyrinopathy.
- A gluten-free diet improved gastrointestinal symptoms but not fevers or rashes.
- This is the first report of a cryopyrinopathy in a patient with celiac disease.
Takeaway
A young child had both celiac disease and a rare condition called cryopyrinopathy, which usually causes fevers and rashes.
Methodology
The case involved clinical evaluation, laboratory tests, and genetic analysis.
Limitations
The findings are based on a single case, limiting generalizability.
Participant Demographics
A 2-year-old Caucasian girl with a family history of celiac disease.
Digital Object Identifier (DOI)
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