Cryopyrin-associated periodic syndrome diagnostic study of choice: Difference between revisions
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{{CMG}}; {{AE}} {{Sahar}} | {{CMG}}; {{AE}} {{Sahar}} | ||
== 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|gold standard test]] for the [[diagnosis]]. | ||
== Diagnostic Study of Choice == | == Diagnostic Study of Choice == | ||
=== Study of choice === | === Study of choice === | ||
*[[Genetic analysis]] is the gold standard test for the [[diagnosis]] of the cryopyrin-associated periodic syndrome. | *[[Genetic analysis]] is the [[Gold standard (test)|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 [[Diagnose|diagnosed]] based on [[clinical]] presentation. | ||
*In 2017, Eurofever registry developed a set of [[Criterion|criteria]] for the [[diagnosis]] of the four major [[Periodic fever syndrome|periodic fever syndromes]]. Table below is the [[diagnostic criteria]] for CAPS.<ref name="FedericiSormani2015">{{cite journal|last1=Federici|first1=Silvia|last2=Sormani|first2=Maria Pia|last3=Ozen|first3=Seza|last4=Lachmann|first4=Helen J|last5=Amaryan|first5=Gayane|last6=Woo|first6=Patricia|last7=Koné-Paut|first7=Isabelle|last8=Dewarrat|first8=Natacha|last9=Cantarini|first9=Luca|last10=Insalaco|first10=Antonella|last11=Uziel|first11=Yosef|last12=Rigante|first12=Donato|last13=Quartier|first13=Pierre|last14=Demirkaya|first14=Erkan|last15=Herlin|first15=Troels|last16=Meini|first16=Antonella|last17=Fabio|first17=Giovanna|last18=Kallinich|first18=Tilmann|last19=Martino|first19=Silvana|last20=Butbul|first20=Aviel Yonatan|last21=Olivieri|first21=Alma|last22=Kuemmerle-Deschner|first22=Jasmin|last23=Neven|first23=Benedicte|last24=Simon|first24=Anna|last25=Ozdogan|first25=Huri|last26=Touitou|first26=Isabelle|last27=Frenkel|first27=Joost|last28=Hofer|first28=Michael|last29=Martini|first29=Alberto|last30=Ruperto|first30=Nicolino|last31=Gattorno|first31=Marco|title=Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers|journal=Annals of the Rheumatic Diseases|volume=74|issue=5|year=2015|pages=799–805|issn=0003-4967|doi=10.1136/annrheumdis-2014-206580}}</ref> | *In 2017, Eurofever registry developed a set of [[Criterion|criteria]] for the [[diagnosis]] of the four major [[Periodic fever syndrome|periodic fever syndromes]]. Table below is the [[diagnostic criteria]] for CAPS.<ref name="FedericiSormani2015">{{cite journal|last1=Federici|first1=Silvia|last2=Sormani|first2=Maria Pia|last3=Ozen|first3=Seza|last4=Lachmann|first4=Helen J|last5=Amaryan|first5=Gayane|last6=Woo|first6=Patricia|last7=Koné-Paut|first7=Isabelle|last8=Dewarrat|first8=Natacha|last9=Cantarini|first9=Luca|last10=Insalaco|first10=Antonella|last11=Uziel|first11=Yosef|last12=Rigante|first12=Donato|last13=Quartier|first13=Pierre|last14=Demirkaya|first14=Erkan|last15=Herlin|first15=Troels|last16=Meini|first16=Antonella|last17=Fabio|first17=Giovanna|last18=Kallinich|first18=Tilmann|last19=Martino|first19=Silvana|last20=Butbul|first20=Aviel Yonatan|last21=Olivieri|first21=Alma|last22=Kuemmerle-Deschner|first22=Jasmin|last23=Neven|first23=Benedicte|last24=Simon|first24=Anna|last25=Ozdogan|first25=Huri|last26=Touitou|first26=Isabelle|last27=Frenkel|first27=Joost|last28=Hofer|first28=Michael|last29=Martini|first29=Alberto|last30=Ruperto|first30=Nicolino|last31=Gattorno|first31=Marco|title=Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers|journal=Annals of the Rheumatic Diseases|volume=74|issue=5|year=2015|pages=799–805|issn=0003-4967|doi=10.1136/annrheumdis-2014-206580}}</ref> | ||
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*The cut-off value for the [[diagnosis]] of CAPS is score equal or higher than 52 scores. | *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. | *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]].<ref name="Kuemmerle-DeschnerOzen2017">{{cite journal|last1=Kuemmerle-Deschner|first1=Jasmin B|last2=Ozen|first2=Seza|last3=Tyrrell|first3=Pascal N|last4=Kone-Paut|first4=Isabelle|last5=Goldbach-Mansky|first5=Raphaela|last6=Lachmann|first6=Helen|last7=Blank|first7=Norbert|last8=Hoffman|first8=Hal M|last9=Weissbarth-Riedel|first9=Elisabeth|last10=Hugle|first10=Boris|last11=Kallinich|first11=Tilmann|last12=Gattorno|first12=Marco|last13=Gul|first13=Ahmet|last14=Ter Haar|first14=Nienke|last15=Oswald|first15=Marlen|last16=Dedeoglu|first16=Fatma|last17=Cantarini|first17=Luca|last18=Benseler|first18=Susanne M|title=Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS)|journal=Annals of the Rheumatic Diseases|volume=76|issue=6|year=2017|pages=942–947|issn=0003-4967|doi=10.1136/annrheumdis-2016-209686}}</ref> | *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]].<ref name="Kuemmerle-DeschnerOzen2017">{{cite journal|last1=Kuemmerle-Deschner|first1=Jasmin B|last2=Ozen|first2=Seza|last3=Tyrrell|first3=Pascal N|last4=Kone-Paut|first4=Isabelle|last5=Goldbach-Mansky|first5=Raphaela|last6=Lachmann|first6=Helen|last7=Blank|first7=Norbert|last8=Hoffman|first8=Hal M|last9=Weissbarth-Riedel|first9=Elisabeth|last10=Hugle|first10=Boris|last11=Kallinich|first11=Tilmann|last12=Gattorno|first12=Marco|last13=Gul|first13=Ahmet|last14=Ter Haar|first14=Nienke|last15=Oswald|first15=Marlen|last16=Dedeoglu|first16=Fatma|last17=Cantarini|first17=Luca|last18=Benseler|first18=Susanne M|title=Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS)|journal=Annals of the Rheumatic Diseases|volume=76|issue=6|year=2017|pages=942–947|issn=0003-4967|doi=10.1136/annrheumdis-2016-209686}}</ref> | ||
{| class="wikitable" | {| class="wikitable" | ||
|+ | |+ | ||
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|- | |- | ||
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*Urticaria-like [[rash]] | *[[Urticaria|Urticaria-like]] [[rash]] | ||
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*Chronic aseptic meningitis | *Chronic aseptic [[meningitis]] | ||
|- | |- | ||
|+ | |+ | ||
|- | |- | ||
| | | | ||
*Skeletal abnormalities | *[[Skeletal]] abnormalities | ||
(epiphyseal overgrowth/frontal bossing) | (epiphyseal overgrowth/frontal bossing) | ||
|- | |- | ||
Latest revision as of 20:49, 16 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 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: |
|
|
|
(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.