Cryopyrin-associated periodic syndrome laboratory findings: Difference between revisions
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==Overview== | ==Overview== | ||
An elevated | An elevated [[concentration]] of serum [[Acute phase reactant|acute-phase reactant]] is [[diagnostic]] of cryopyrin-associated periodic syndrome. | ||
==Laboratory Findings== | ==Laboratory Findings== | ||
*Laboratory findings consistent with the diagnosis of Cryopyrin-associated periodic syndrome include:<ref name="Almeida de JesusGoldbach-Mansky2013">{{cite journal|last1=Almeida de Jesus|first1=Adriana|last2=Goldbach-Mansky|first2=Raphaela|title=Monogenic autoinflammatory diseases: Concept and clinical manifestations|journal=Clinical Immunology|volume=147|issue=3|year=2013|pages=155–174|issn=15216616|doi=10.1016/j.clim.2013.03.016}}</ref><ref name="SibleyPlass2012">{{cite journal|last1=Sibley|first1=Cailin H.|last2=Plass|first2=Nikki|last3=Snow|first3=Joseph|last4=Wiggs|first4=Edythe A.|last5=Brewer|first5=Carmen C.|last6=King|first6=Kelly A.|last7=Zalewski|first7=Christopher|last8=Kim|first8=H. Jeffrey|last9=Bishop|first9=Rachel|last10=Hill|first10=Suvimol|last11=Paul|first11=Scott M.|last12=Kicker|first12=Patrick|last13=Phillips|first13=Zachary|last14=Dolan|first14=Joseph G.|last15=Widemann|first15=Brigitte|last16=Jayaprakash|first16=Nalini|last17=Pucino|first17=Frank|last18=Stone|first18=Deborah L.|last19=Chapelle|first19=Dawn|last20=Snyder|first20=Christopher|last21=Butman|first21=John A.|last22=Wesley|first22=Robert|last23=Goldbach-Mansky|first23=Raphaela|title=Sustained response and prevention of damage progression in patients with neonatal-onset multisystem inflammatory disease treated with anakinra: A cohort study to determine three- and five-year outcomes|journal=Arthritis & Rheumatism|volume=64|issue=7|year=2012|pages=2375–2386|issn=00043591|doi=10.1002/art.34409}}</ref> | *Laboratory findings consistent with the [[diagnosis]] of Cryopyrin-associated periodic syndrome include:<ref name="Almeida de JesusGoldbach-Mansky2013">{{cite journal|last1=Almeida de Jesus|first1=Adriana|last2=Goldbach-Mansky|first2=Raphaela|title=Monogenic autoinflammatory diseases: Concept and clinical manifestations|journal=Clinical Immunology|volume=147|issue=3|year=2013|pages=155–174|issn=15216616|doi=10.1016/j.clim.2013.03.016}}</ref><ref name="SibleyPlass2012">{{cite journal|last1=Sibley|first1=Cailin H.|last2=Plass|first2=Nikki|last3=Snow|first3=Joseph|last4=Wiggs|first4=Edythe A.|last5=Brewer|first5=Carmen C.|last6=King|first6=Kelly A.|last7=Zalewski|first7=Christopher|last8=Kim|first8=H. Jeffrey|last9=Bishop|first9=Rachel|last10=Hill|first10=Suvimol|last11=Paul|first11=Scott M.|last12=Kicker|first12=Patrick|last13=Phillips|first13=Zachary|last14=Dolan|first14=Joseph G.|last15=Widemann|first15=Brigitte|last16=Jayaprakash|first16=Nalini|last17=Pucino|first17=Frank|last18=Stone|first18=Deborah L.|last19=Chapelle|first19=Dawn|last20=Snyder|first20=Christopher|last21=Butman|first21=John A.|last22=Wesley|first22=Robert|last23=Goldbach-Mansky|first23=Raphaela|title=Sustained response and prevention of damage progression in patients with neonatal-onset multisystem inflammatory disease treated with anakinra: A cohort study to determine three- and five-year outcomes|journal=Arthritis & Rheumatism|volume=64|issue=7|year=2012|pages=2375–2386|issn=00043591|doi=10.1002/art.34409}}</ref> | ||
**Elevated levels of [[acute-phase reactant]] | **Elevated levels of [[Acute phase reactant|acute-phase reactant]] | ||
**[[Leukocytosis]] | **[[Leukocytosis]] | ||
**Elevated levels of [[serum amyloid A]] (SAA)(especially in Muckle-Wells syndrome (MWS)) | **Elevated levels of [[serum amyloid A]] (SAA)(especially in Muckle-Wells syndrome (MWS)) | ||
**CSF [leukocytosis]] (especially in NOMID due to aseptic meningitis) | **CSF [[leukocytosis]] (especially in NOMID due to aseptic [[meningitis]])<ref name="Stojanov2004">{{cite journal|last1=Stojanov|first1=S.|title=A Novel CIAS1 Mutation and Plasma/Cerebrospinal Fluid Cytokine Profile in a German Patient With Neonatal-Onset Multisystem Inflammatory Disease Responsive to Methotrexate Therapy|journal=PEDIATRICS|volume=114|issue=1|year=2004|pages=e124–e127|issn=0031-4005|doi=10.1542/peds.114.1.e124}}</ref> | ||
*[[Complete blood count]] may be notable for: | |||
**Slightly decreased [[hematocrit]] level | |||
**Mild [[Neutrophil|neutrophillia]] | |||
==References== | ==References== | ||
Latest revision as of 20:58, 16 July 2019
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Cryopyrin-associated periodic syndrome Microchapters |
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Differentiating Cryopyrin-associated periodic syndrome from other Diseases |
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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
An elevated concentration of serum acute-phase reactant is diagnostic of cryopyrin-associated periodic syndrome.
Laboratory Findings
- Laboratory findings consistent with the diagnosis of Cryopyrin-associated periodic syndrome include:[1][2]
- Elevated levels of acute-phase reactant
- Leukocytosis
- Elevated levels of serum amyloid A (SAA)(especially in Muckle-Wells syndrome (MWS))
- CSF leukocytosis (especially in NOMID due to aseptic meningitis)[3]
- Complete blood count may be notable for:
- Slightly decreased hematocrit level
- Mild neutrophillia
References
- ↑ Almeida de Jesus, Adriana; Goldbach-Mansky, Raphaela (2013). "Monogenic autoinflammatory diseases: Concept and clinical manifestations". Clinical Immunology. 147 (3): 155–174. doi:10.1016/j.clim.2013.03.016. ISSN 1521-6616.
- ↑ Sibley, Cailin H.; Plass, Nikki; Snow, Joseph; Wiggs, Edythe A.; Brewer, Carmen C.; King, Kelly A.; Zalewski, Christopher; Kim, H. Jeffrey; Bishop, Rachel; Hill, Suvimol; Paul, Scott M.; Kicker, Patrick; Phillips, Zachary; Dolan, Joseph G.; Widemann, Brigitte; Jayaprakash, Nalini; Pucino, Frank; Stone, Deborah L.; Chapelle, Dawn; Snyder, Christopher; Butman, John A.; Wesley, Robert; Goldbach-Mansky, Raphaela (2012). "Sustained response and prevention of damage progression in patients with neonatal-onset multisystem inflammatory disease treated with anakinra: A cohort study to determine three- and five-year outcomes". Arthritis & Rheumatism. 64 (7): 2375–2386. doi:10.1002/art.34409. ISSN 0004-3591.
- ↑ Stojanov, S. (2004). "A Novel CIAS1 Mutation and Plasma/Cerebrospinal Fluid Cytokine Profile in a German Patient With Neonatal-Onset Multisystem Inflammatory Disease Responsive to Methotrexate Therapy". PEDIATRICS. 114 (1): e124–e127. doi:10.1542/peds.114.1.e124. ISSN 0031-4005.