Cryopyrin-associated periodic syndrome diagnostic study of choice

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

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.

Cryopyrin-associated periodic syndrome is primarily diagnosed based on clinical presentation.
In 2017, 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.
In 2016, an international team of experts developed and validated a set of criteria for the diagnosis of this disorder. Table below provides the diagnostic criteria.^[2]


Elevated levels of acute phase reactant
Plus ≥ 2 of 6 CAPS typical signs/symptoms:
Urticaria-like rash
Cold/stress-triggered episodes
Sensorineural hearing loss
Musculoskeletal symptoms (arthralgia/arthritis/myalgia)
Chronic aseptic meningitis
Skeletal abnormalities (epiphyseal overgrowth/frontal bossing)

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.
↑ Kuemmerle-Deschner, Jasmin B; Ozen, Seza; Tyrrell, Pascal N; Kone-Paut, Isabelle; Goldbach-Mansky, Raphaela; Lachmann, Helen; Blank, Norbert; Hoffman, Hal M; Weissbarth-Riedel, Elisabeth; Hugle, Boris; Kallinich, Tilmann; Gattorno, Marco; Gul, Ahmet; Ter Haar, Nienke; Oswald, Marlen; Dedeoglu, Fatma; Cantarini, Luca; Benseler, Susanne M (2017). “Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS)”. Annals of the Rheumatic Diseases. 76 (6): 942–947. doi:10.1136/annrheumdis-2016-209686. ISSN 0003-4967.

Overview