Cryopyrin-associated periodic syndrome diagnostic study of choice: Difference between revisions
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== Overview == | == Overview == | ||
Cryopyrin-associated periodic syndrome is primarily [[Diagnosis|diagnosed]] based on the clinical presentation. | Cryopyrin-associated periodic syndrome is primarily [[Diagnosis|diagnosed]] based on the clinical presentation. genetic analysis of NLRP3 gene is the gold standard test for the diagnosis. | ||
== Diagnostic Study of Choice == | == Diagnostic Study of Choice == | ||
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*Genetic analysis is the gold standard test for the diagnosis of the cryopyrin-associated periodic syndrome. | *Genetic analysis is the gold standard test for the diagnosis of the cryopyrin-associated periodic syndrome. | ||
*However, the first step to diagnose this condition is the clinical features. | *However, the first step to diagnose this condition is the clinical features. | ||
=== Euro fever criteria === | === Euro fever criteria === | ||
*Cryopyrin-associated periodic syndrome is primarily diagnosed based on clinical presentation. | *Cryopyrin-associated periodic syndrome is primarily diagnosed based on clinical presentation. | ||
Revision as of 14:54, 8 July 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[2]
Overview
Cryopyrin-associated periodic syndrome is primarily diagnosed based on the clinical presentation. genetic analysis of NLRP3 gene is the gold standard test for the diagnosis.
Diagnostic Study of Choice
Study of choice
- Genetic analysis is the gold standard test for the diagnosis of the cryopyrin-associated periodic syndrome.
- However, the first step to diagnose this condition is the clinical features.
Euro fever criteria
- Cryopyrin-associated periodic syndrome is primarily diagnosed based on clinical presentation.
- In 2014, Eurofever registry developed a set of criteria for the diagnosis of the four major periodic fever syndromes. Table below is the diagnostic criteria for CAPS.[1]
| Presence | Score |
|---|---|
| Urticarial rash | 25 |
| Neurosensorial hearing loss | 25 |
| Conjunctivitis | 10 |
| Absence | Score |
| Exudative pharyngitis | 25 |
| Abdominal pain | 15 |
- The cut-off value for the diagnosis of CAPS is score equal or higher than 52 scores.
- The overall sensitivity and specificity of this set of criteria for the diagnosis of this disorder is 70% and 95%, respectively.
References
- ↑ Federici, Silvia; Sormani, Maria Pia; Ozen, Seza; Lachmann, Helen J; Amaryan, Gayane; Woo, Patricia; Koné-Paut, Isabelle; Dewarrat, Natacha; Cantarini, Luca; Insalaco, Antonella; Uziel, Yosef; Rigante, Donato; Quartier, Pierre; Demirkaya, Erkan; Herlin, Troels; Meini, Antonella; Fabio, Giovanna; Kallinich, Tilmann; Martino, Silvana; Butbul, Aviel Yonatan; Olivieri, Alma; Kuemmerle-Deschner, Jasmin; Neven, Benedicte; Simon, Anna; Ozdogan, Huri; Touitou, Isabelle; Frenkel, Joost; Hofer, Michael; Martini, Alberto; Ruperto, Nicolino; Gattorno, Marco (2015). "Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers". Annals of the Rheumatic Diseases. 74 (5): 799–805. doi:10.1136/annrheumdis-2014-206580. ISSN 0003-4967.