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

Xue Wang, Nan Zhou, Yuxiang Zhi Department of Allergy & Clinical Immunology, Peking Union Medical College Hospital, Peking Union Medical College & Chinese Academy of Medical Sciences, National Clinical Research Center for Immunologic Diseases, Beijing, 100730, People’s Republic of ChinaCorrespondence: Yuxiang Zhi, Email [email protected]: 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.Keywords: cryopyrin-associated periodic syndromes, case report, urticaria, large family