Cryopyrin-associated periodic syndrome diagnostic study of choice

Cryopyrin-associated periodic syndrome Microchapters
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Diagnostic Study of Choice
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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.

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.

The comparison of various diagnostic studies for [disease name]

Test	Sensitivity	Specificity
Test 1	...%	...%
Test 2	...%	...%

[Name of test with higher sensitivity and specificity] is the preferred investigation based on the sensitivity and specificity

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.

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.