Cryopyrin-associated periodic syndrome laboratory findings

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[2]

Overview

An elevated concentration of serum acute-phase reactant is diagnostic of cryopyrin-associated periodic syndrome.

Laboratory Findings

Laboratory findings consistent with the diagnosis of Cryopyrin-associated periodic syndrome include:^[1]^[2]
- Elevated levels of acute-phase reactant
- Leukocytosis
- Elevated levels of serum amyloid A (SAA)(especially in Muckle-Wells syndrome (MWS))
- CSF leukocytosis (especially in NOMID due to aseptic meningitis)^[3]
Complete blood count may be notable for:
- Slightly decreased hematocrit level
- Mild neutrophillia

References

↑ Almeida de Jesus, Adriana; Goldbach-Mansky, Raphaela (2013). “Monogenic autoinflammatory diseases: Concept and clinical manifestations”. Clinical Immunology. 147 (3): 155–174. doi:10.1016/j.clim.2013.03.016. ISSN 1521-6616.
↑ Sibley, Cailin H.; Plass, Nikki; Snow, Joseph; Wiggs, Edythe A.; Brewer, Carmen C.; King, Kelly A.; Zalewski, Christopher; Kim, H. Jeffrey; Bishop, Rachel; Hill, Suvimol; Paul, Scott M.; Kicker, Patrick; Phillips, Zachary; Dolan, Joseph G.; Widemann, Brigitte; Jayaprakash, Nalini; Pucino, Frank; Stone, Deborah L.; Chapelle, Dawn; Snyder, Christopher; Butman, John A.; Wesley, Robert; Goldbach-Mansky, Raphaela (2012). “Sustained response and prevention of damage progression in patients with neonatal-onset multisystem inflammatory disease treated with anakinra: A cohort study to determine three- and five-year outcomes”. Arthritis & Rheumatism. 64 (7): 2375–2386. doi:10.1002/art.34409. ISSN 0004-3591.
↑ Stojanov, S. (2004). “A Novel CIAS1 Mutation and Plasma/Cerebrospinal Fluid Cytokine Profile in a German Patient With Neonatal-Onset Multisystem Inflammatory Disease Responsive to Methotrexate Therapy”. PEDIATRICS. 114 (1): e124–e127. doi:10.1542/peds.114.1.e124. ISSN 0031-4005.

Overview