pediatrics
Hereditary Cryopyrin Associated Periodic Syndromes (Cryopyrinopathies)
Diagnosis of Hereditary CAPS
Clinical criteria Proposed diagnostic criteria for CAPS include increased markers of inflammation and at least 2 of the following ( Diagnosis references ) : Urticaria-like rash Episodes triggered by cold and/or stress Sensorineural hearing loss Musculoskeletal symptoms, including arthralgias, arthritis, and myalgias Chronic aseptic meningitis Skeletal abnormalities, including epiphyseal overgrowth and frontal bossing These criteria have a sensitivity of 81% and specificity of 94% ( Diagnosis references ). The European Alliance of Associations for Rheumatology (EULAR)/American College of Rheumatology (ACR) also have outlined diagnostic considerations for CAPS ( Although early age of onset makes the diagnosis of CAPS more likely, CAPS should also be considered in people with a late age of onset because of the disease's rarity (such that it is often not considered), mild phenotypes (which can escape recognition in early life), and somatic mutations (no family history) ( Diagnosis references ). 1.Kuemmerle-Deschner JB, Ozen S, Tyrrell PN, et al: Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS).Ann Rheum Dis76(6):942-947, 2017. doi: 10.1136/annrheumdis-2016-209686 2.Romano M, Arici ZS, Piskin D, et al: The 2021 EULAR/American College of Rheumatology points to consider for diagnosis, management and monitoring of the interleukin-1 mediated autoinflammatory diseases: cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated periodic syndrome, mevalonate kinase deficiency, and deficiency of the interleukin-1 receptor antagonist.Ann Rheum Dis81(7):907-921, 2022. doi: 10.1136/annrheumdis-2021-221801 3.Welzel T, Kuemmerle-Deschner JB: Diagnosis and management of the cryopyrin-associated periodic syndromes (CAPS): What do we know today?J Clin Med10(1):128, 2021. doi: 10.3390/jcm10010128 