Cryopyrin-associated periodic syndrome diagnostic study of choice: Difference between revisions
Jump to navigation
Jump to search
No edit summary |
|||
| Line 3: | Line 3: | ||
{{CMG}}; {{AE}} {{Sahar}} | {{CMG}}; {{AE}} {{Sahar}} | ||
== Overview == | == Overview == | ||
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. | 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 == | ||
=== 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 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. | ||
*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> | ||
{| border="3" | {| border="3" | ||
| Line 44: | Line 44: | ||
|- | |- | ||
| | | | ||
*Urticaria-like rash | *Urticaria-like [[rash]] | ||
|- | |- | ||
| | | | ||
| Line 50: | Line 50: | ||
|- | |- | ||
| | | | ||
*Sensorineural hearing loss | *[[Sensorineural hearing loss]] | ||
|- | |- | ||
| | | | ||
*Musculoskeletal symptoms (arthralgia/arthritis/myalgia) | *Musculoskeletal [[symptoms]] ([[arthralgia]]/[[arthritis]]/[[myalgia]]) | ||
|- | |- | ||
| | | | ||
Revision as of 18:52, 15 July 2019
|
Cryopyrin-associated periodic syndrome Microchapters |
|
Differentiating Cryopyrin-associated periodic syndrome from other Diseases |
|---|
|
Diagnosis |
|
Treatment |
|
Case Studies |
|
Cryopyrin-associated periodic syndrome diagnostic study of choice On the Web |
|
American Roentgen Ray Society Images of Cryopyrin-associated periodic syndrome diagnostic study of choice |
|
FDA on Cryopyrin-associated periodic syndrome diagnostic study of choice |
|
CDC on Cryopyrin-associated periodic syndrome diagnostic study of choice |
|
Cryopyrin-associated periodic syndrome diagnostic study of choice in the news |
|
Blogs on 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
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.