Work

From Urticaria to Correct Diagnosis: A Case Report of Cryopyrin-Associated Periodic Syndromes

Year: 2025

Type: article

Abstract: Cryopyrin-associated periodic syndrome (CAPS) is a rare autoinflammatory disorder often misdiagnosed as urticaria or urticarial vasculitis, thereby delaying treatment for patients. This report presents a large CAPS pedigree. The proband was a 57-year-old man with recurrent urticaria-like rash, fever, and arthralgia for more than 50 years and hearing loss for 28 years. Sixteen of his relatives had similar symptoms. One-generation sequencing revealed a c.778C>T; p.(Arg260Trp) variant in the NLRP3 gene, confirming the diagnosis of CAPS. The aim of this case report is to raise awareness of CAPS and its various clinical manifestations, highlighting that urticaria may be a presentation of autoinflammatory diseases, thereby improving diagnostic accuracy.

Source: Journal of Asthma and Allergy

DOI: 10.2147/jaa.s509939

Authors: Xue Wang, Nan Zhou, Yuxiang Zhi

Institutions: Chinese Academy of Medical Sciences & Peking Union Medical College, Peking Union Medical College Hospital

Language: English

Topic: Inflammasome and immune disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,836