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
Periorbital oedema	21
Duration of episodes >6 days	19
Migratory rash	18
Myalgia	6
Reletavies affected	7
Absence	Score
Vomiting	14
Aphthous stomatitis	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.