Cryopyrin-associated periodic syndrome history and symptoms: Difference between revisions
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==Overview== | ==Overview== | ||
The cryopyrin-associated periodic syndrome is a spectrum of three different clinical phenotypes with the mildest form being familial cold autoinflammatory syndrome (FCAS), formerly called familial cold urticaria and neonatal-onset multisystem inflammatory disorder (NOMID), also known as chronic infantile neurologic cutaneous and articular (CINCA) as the most severe form. | The cryopyrin-associated periodic syndrome is a spectrum of three different [[clinical]] [[phenotypes]] with the mildest form being familial cold autoinflammatory syndrome (FCAS), formerly called familial cold urticaria and neonatal-onset multisystem inflammatory disorder (NOMID), also known as chronic infantile neurologic cutaneous and articular (CINCA) as the most severe form. Muckle-Wells syndrome (MWS) is the intermediate form of the [[disease]] in terms of severity. [[Symptoms]] of the cryopyrin-associated periodic syndrome include episodes of cold-induced fever, [[skin rash]], and [[joint pain]]. | ||
Muckle-Wells syndrome (MWS) is the intermediate form of the disease in terms of severity. Symptoms of the cryopyrin-associated periodic syndrome include episodes of cold-induced fever, skin rash, and joint pain. | |||
==History and Symptoms== | ==History and Symptoms== | ||
*Symptoms of the cryopyrin-associated periodic syndrome include episodes of cold-induced fever, skin rash, and joint pain.<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> | *[[Symptoms]] of the cryopyrin-associated periodic syndrome include episodes of cold-induced [[fever]], [[skin rash]], and [[joint pain]].<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> | ||
*The cryopyrin-associated periodic syndrome is a spectrum of three different clinical phenotypes with the following milde to severe order: | *The cryopyrin-associated periodic syndrome is a spectrum of three different clinical [[phenotypes]] with the following milde to severe order: | ||
**Familial cold autoinflammatory syndrome (FCAS), formerly called familial cold urticaria | **Familial cold autoinflammatory syndrome (FCAS), formerly called familial cold urticaria | ||
**Muckle-Wells syndrome (MWS) | **Muckle-Wells syndrome (MWS) | ||
**Neonatal-onset multisystem inflammatory disorder (NOMID), also known as chronic infantile neurologic cutaneous and articular (CINCA) | **Neonatal-onset multisystem inflammatory disorder (NOMID), also known as chronic infantile neurologic cutaneous and articular (CINCA) | ||
===Common Symptoms=== | ===Common Symptoms=== | ||
*Common symptoms of the familial cold autoinflammatory syndrome (FCAS) include:<ref name="HawkinsLachmann2004">{{cite journal|last1=Hawkins|first1=Philip N.|last2=Lachmann|first2=Helen J.|last3=Aganna|first3=Ebun|last4=McDermott|first4=Michael F.|title=Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra|journal=Arthritis & Rheumatism|volume=50|issue=2|year=2004|pages=607–612|issn=0004-3591|doi=10.1002/art.20033}}</ref> | *Common [[symptoms]] of the familial cold autoinflammatory syndrome (FCAS) include:<ref name="HawkinsLachmann2004">{{cite journal|last1=Hawkins|first1=Philip N.|last2=Lachmann|first2=Helen J.|last3=Aganna|first3=Ebun|last4=McDermott|first4=Michael F.|title=Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra|journal=Arthritis & Rheumatism|volume=50|issue=2|year=2004|pages=607–612|issn=0004-3591|doi=10.1002/art.20033}}</ref> | ||
**Cold-induced episodes of fever | **Cold-induced episodes of [[fever]] | ||
**Joint pain | **[[Joint pain]] | ||
**Skin rash | **Skin [[rash]] | ||
**Erythema of the eye | **[[Erythema]] of the eye | ||
*Common symptoms of Muckle-Wells syndrome (MWS) include:<ref name="Kuemmerle-DeschnerKoitschev2013">{{cite journal|last1=Kuemmerle-Deschner|first1=Jasmin B.|last2=Koitschev|first2=Assen|last3=Ummenhofer|first3=Katharina|last4=Hansmann|first4=Sandra|last5=Plontke|first5=Stefan K.|last6=Koitschev|first6=Christiane|last7=Koetter|first7=Ina|last8=Angermair|first8=Eva|last9=Benseler|first9=Susanne M.|title=Hearing loss in Muckle-Wells syndrome|journal=Arthritis & Rheumatism|volume=65|issue=3|year=2013|pages=824–831|issn=00043591|doi=10.1002/art.37810}}</ref> | *Common [[symptoms]] of Muckle-Wells syndrome (MWS) include:<ref name="Kuemmerle-DeschnerKoitschev2013">{{cite journal|last1=Kuemmerle-Deschner|first1=Jasmin B.|last2=Koitschev|first2=Assen|last3=Ummenhofer|first3=Katharina|last4=Hansmann|first4=Sandra|last5=Plontke|first5=Stefan K.|last6=Koitschev|first6=Christiane|last7=Koetter|first7=Ina|last8=Angermair|first8=Eva|last9=Benseler|first9=Susanne M.|title=Hearing loss in Muckle-Wells syndrome|journal=Arthritis & Rheumatism|volume=65|issue=3|year=2013|pages=824–831|issn=00043591|doi=10.1002/art.37810}}</ref> | ||
**Episodes of fever | **Episodes of [[fever]] | ||
**Joint pain | **[[Joint pain]] | ||
**Headache | **[[Headache]] | ||
**Progressive hearing loss | **Progressive [[hearing loss]] | ||
*Common symptoms of Neonatal-onset | *Common [[symptoms]] of Neonatal-onset multi-system inflammatory disorder (NOMID) include:<ref name="Goldbach-ManskyDailey2006">{{cite journal|last1=Goldbach-Mansky|first1=Raphaela|last2=Dailey|first2=Natalie J.|last3=Canna|first3=Scott W.|last4=Gelabert|first4=Ana|last5=Jones|first5=Janet|last6=Rubin|first6=Benjamin I.|last7=Kim|first7=H. Jeffrey|last8=Brewer|first8=Carmen|last9=Zalewski|first9=Christopher|last10=Wiggs|first10=Edythe|last11=Hill|first11=Suvimol|last12=Turner|first12=Maria L.|last13=Karp|first13=Barbara I.|last14=Aksentijevich|first14=Ivona|last15=Pucino|first15=Frank|last16=Penzak|first16=Scott R.|last17=Haverkamp|first17=Margje H.|last18=Stein|first18=Leonard|last19=Adams|first19=Barbara S.|last20=Moore|first20=Terry L.|last21=Fuhlbrigge|first21=Robert C.|last22=Shaham|first22=Bracha|last23=Jarvis|first23=James N.|last24=O'Neil|first24=Kathleen|last25=Vehe|first25=Richard K.|last26=Beitz|first26=Laurie O.|last27=Gardner|first27=Gregory|last28=Hannan|first28=William P.|last29=Warren|first29=Robert W.|last30=Horn|first30=William|last31=Cole|first31=Joe L.|last32=Paul|first32=Scott M.|last33=Hawkins|first33=Philip N.|last34=Pham|first34=Tuyet Hang|last35=Snyder|first35=Christopher|last36=Wesley|first36=Robert A.|last37=Hoffmann|first37=Steven C.|last38=Holland|first38=Steven M.|last39=Butman|first39=John A.|last40=Kastner|first40=Daniel L.|title=Neonatal-Onset Multisystem Inflammatory Disease Responsive to Interleukin-1β Inhibition|journal=New England Journal of Medicine|volume=355|issue=6|year=2006|pages=581–592|issn=0028-4793|doi=10.1056/NEJMoa055137}}</ref> | ||
**Mental delay | **[[Developmental delay|Mental delay]] | ||
**Urticarial skin rash | **[[Urticaria|Urticarial skin]] [[rash]] | ||
**Hearing loss | **[[Hearing loss]] | ||
**Limb, and joint pain | **Limb, and [[joint pain]] | ||
===Less Common Symptoms=== | ===Less Common Symptoms=== | ||
*Less common symptoms of the familial cold autoinflammatory syndrome (FCAS) include:<ref name="Kastner2005">{{cite journal|last1=Kastner|first1=D. L.|title=Hereditary Periodic Fever Syndromes|journal=Hematology|volume=2005|issue=1|year=2005|pages=74–81|issn=1520-4391|doi=10.1182/asheducation-2005.1.74}}</ref> | *Less common [[symptoms]] of the familial cold autoinflammatory syndrome (FCAS) include:<ref name="Kastner2005">{{cite journal|last1=Kastner|first1=D. L.|title=Hereditary Periodic Fever Syndromes|journal=Hematology|volume=2005|issue=1|year=2005|pages=74–81|issn=1520-4391|doi=10.1182/asheducation-2005.1.74}}</ref> | ||
**Fatigue | **[[Fatigue]] | ||
**Headache | **[[Headache]] | ||
*Less common symptoms of Muckle-Wells syndrome (MWS) include:<ref name="HoffmanSimon2009">{{cite journal|last1=Hoffman|first1=Hal M.|last2=Simon|first2=Anna|title=Recurrent febrile syndromes—what a rheumatologist needs to know|journal=Nature Reviews Rheumatology|volume=5|issue=5|year=2009|pages=249–256|issn=1759-4790|doi=10.1038/nrrheum.2009.40}}</ref> | *Less common [[symptoms]] of Muckle-Wells syndrome (MWS) include:<ref name="HoffmanSimon2009">{{cite journal|last1=Hoffman|first1=Hal M.|last2=Simon|first2=Anna|title=Recurrent febrile syndromes—what a rheumatologist needs to know|journal=Nature Reviews Rheumatology|volume=5|issue=5|year=2009|pages=249–256|issn=1759-4790|doi=10.1038/nrrheum.2009.40}}</ref> | ||
**Abdominal pain | **[[Abdominal pain]] | ||
**Headache | **[[Headache]] | ||
**Fatigue | **[[Fatigue]] | ||
*Less common symptoms of Neonatal-onset multisystem inflammatory disorder (NOMID) include:<ref name="Goldbach-ManskyDailey2006">{{cite journal|last1=Goldbach-Mansky|first1=Raphaela|last2=Dailey|first2=Natalie J.|last3=Canna|first3=Scott W.|last4=Gelabert|first4=Ana|last5=Jones|first5=Janet|last6=Rubin|first6=Benjamin I.|last7=Kim|first7=H. Jeffrey|last8=Brewer|first8=Carmen|last9=Zalewski|first9=Christopher|last10=Wiggs|first10=Edythe|last11=Hill|first11=Suvimol|last12=Turner|first12=Maria L.|last13=Karp|first13=Barbara I.|last14=Aksentijevich|first14=Ivona|last15=Pucino|first15=Frank|last16=Penzak|first16=Scott R.|last17=Haverkamp|first17=Margje H.|last18=Stein|first18=Leonard|last19=Adams|first19=Barbara S.|last20=Moore|first20=Terry L.|last21=Fuhlbrigge|first21=Robert C.|last22=Shaham|first22=Bracha|last23=Jarvis|first23=James N.|last24=O'Neil|first24=Kathleen|last25=Vehe|first25=Richard K.|last26=Beitz|first26=Laurie O.|last27=Gardner|first27=Gregory|last28=Hannan|first28=William P.|last29=Warren|first29=Robert W.|last30=Horn|first30=William|last31=Cole|first31=Joe L.|last32=Paul|first32=Scott M.|last33=Hawkins|first33=Philip N.|last34=Pham|first34=Tuyet Hang|last35=Snyder|first35=Christopher|last36=Wesley|first36=Robert A.|last37=Hoffmann|first37=Steven C.|last38=Holland|first38=Steven M.|last39=Butman|first39=John A.|last40=Kastner|first40=Daniel L.|title=Neonatal-Onset Multisystem Inflammatory Disease Responsive to Interleukin-1β Inhibition|journal=New England Journal of Medicine|volume=355|issue=6|year=2006|pages=581–592|issn=0028-4793|doi=10.1056/NEJMoa055137}}</ref> | *Less common symptoms of Neonatal-onset multisystem inflammatory disorder (NOMID) include:<ref name="Goldbach-ManskyDailey2006">{{cite journal|last1=Goldbach-Mansky|first1=Raphaela|last2=Dailey|first2=Natalie J.|last3=Canna|first3=Scott W.|last4=Gelabert|first4=Ana|last5=Jones|first5=Janet|last6=Rubin|first6=Benjamin I.|last7=Kim|first7=H. Jeffrey|last8=Brewer|first8=Carmen|last9=Zalewski|first9=Christopher|last10=Wiggs|first10=Edythe|last11=Hill|first11=Suvimol|last12=Turner|first12=Maria L.|last13=Karp|first13=Barbara I.|last14=Aksentijevich|first14=Ivona|last15=Pucino|first15=Frank|last16=Penzak|first16=Scott R.|last17=Haverkamp|first17=Margje H.|last18=Stein|first18=Leonard|last19=Adams|first19=Barbara S.|last20=Moore|first20=Terry L.|last21=Fuhlbrigge|first21=Robert C.|last22=Shaham|first22=Bracha|last23=Jarvis|first23=James N.|last24=O'Neil|first24=Kathleen|last25=Vehe|first25=Richard K.|last26=Beitz|first26=Laurie O.|last27=Gardner|first27=Gregory|last28=Hannan|first28=William P.|last29=Warren|first29=Robert W.|last30=Horn|first30=William|last31=Cole|first31=Joe L.|last32=Paul|first32=Scott M.|last33=Hawkins|first33=Philip N.|last34=Pham|first34=Tuyet Hang|last35=Snyder|first35=Christopher|last36=Wesley|first36=Robert A.|last37=Hoffmann|first37=Steven C.|last38=Holland|first38=Steven M.|last39=Butman|first39=John A.|last40=Kastner|first40=Daniel L.|title=Neonatal-Onset Multisystem Inflammatory Disease Responsive to Interleukin-1β Inhibition|journal=New England Journal of Medicine|volume=355|issue=6|year=2006|pages=581–592|issn=0028-4793|doi=10.1056/NEJMoa055137}}</ref> | ||
**Decreased vision | **[[Vision loss|Decreased vision]] | ||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Latest revision as of 20:52, 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
The cryopyrin-associated periodic syndrome is a spectrum of three different clinical phenotypes with the mildest form being familial cold autoinflammatory syndrome (FCAS), formerly called familial cold urticaria and neonatal-onset multisystem inflammatory disorder (NOMID), also known as chronic infantile neurologic cutaneous and articular (CINCA) as the most severe form. Muckle-Wells syndrome (MWS) is the intermediate form of the disease in terms of severity. Symptoms of the cryopyrin-associated periodic syndrome include episodes of cold-induced fever, skin rash, and joint pain.
History and Symptoms
- Symptoms of the cryopyrin-associated periodic syndrome include episodes of cold-induced fever, skin rash, and joint pain.[1]
- The cryopyrin-associated periodic syndrome is a spectrum of three different clinical phenotypes with the following milde to severe order:
- Familial cold autoinflammatory syndrome (FCAS), formerly called familial cold urticaria
- Muckle-Wells syndrome (MWS)
- Neonatal-onset multisystem inflammatory disorder (NOMID), also known as chronic infantile neurologic cutaneous and articular (CINCA)
Common Symptoms
- Common symptoms of the familial cold autoinflammatory syndrome (FCAS) include:[2]
- Cold-induced episodes of fever
- Joint pain
- Skin rash
- Erythema of the eye
- Common symptoms of Muckle-Wells syndrome (MWS) include:[3]
- Episodes of fever
- Joint pain
- Headache
- Progressive hearing loss
- Common symptoms of Neonatal-onset multi-system inflammatory disorder (NOMID) include:[4]
- Mental delay
- Urticarial skin rash
- Hearing loss
- Limb, and joint pain
Less Common Symptoms
- Less common symptoms of the familial cold autoinflammatory syndrome (FCAS) include:[5]
- Less common symptoms of Muckle-Wells syndrome (MWS) include:[6]
- Less common symptoms of Neonatal-onset multisystem inflammatory disorder (NOMID) include:[4]
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.
- ↑ Hawkins, Philip N.; Lachmann, Helen J.; Aganna, Ebun; McDermott, Michael F. (2004). "Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra". Arthritis & Rheumatism. 50 (2): 607–612. doi:10.1002/art.20033. ISSN 0004-3591.
- ↑ Kuemmerle-Deschner, Jasmin B.; Koitschev, Assen; Ummenhofer, Katharina; Hansmann, Sandra; Plontke, Stefan K.; Koitschev, Christiane; Koetter, Ina; Angermair, Eva; Benseler, Susanne M. (2013). "Hearing loss in Muckle-Wells syndrome". Arthritis & Rheumatism. 65 (3): 824–831. doi:10.1002/art.37810. ISSN 0004-3591.
- ↑ 4.0 4.1 Goldbach-Mansky, Raphaela; Dailey, Natalie J.; Canna, Scott W.; Gelabert, Ana; Jones, Janet; Rubin, Benjamin I.; Kim, H. Jeffrey; Brewer, Carmen; Zalewski, Christopher; Wiggs, Edythe; Hill, Suvimol; Turner, Maria L.; Karp, Barbara I.; Aksentijevich, Ivona; Pucino, Frank; Penzak, Scott R.; Haverkamp, Margje H.; Stein, Leonard; Adams, Barbara S.; Moore, Terry L.; Fuhlbrigge, Robert C.; Shaham, Bracha; Jarvis, James N.; O'Neil, Kathleen; Vehe, Richard K.; Beitz, Laurie O.; Gardner, Gregory; Hannan, William P.; Warren, Robert W.; Horn, William; Cole, Joe L.; Paul, Scott M.; Hawkins, Philip N.; Pham, Tuyet Hang; Snyder, Christopher; Wesley, Robert A.; Hoffmann, Steven C.; Holland, Steven M.; Butman, John A.; Kastner, Daniel L. (2006). "Neonatal-Onset Multisystem Inflammatory Disease Responsive to Interleukin-1β Inhibition". New England Journal of Medicine. 355 (6): 581–592. doi:10.1056/NEJMoa055137. ISSN 0028-4793.
- ↑ Kastner, D. L. (2005). "Hereditary Periodic Fever Syndromes". Hematology. 2005 (1): 74–81. doi:10.1182/asheducation-2005.1.74. ISSN 1520-4391.
- ↑ Hoffman, Hal M.; Simon, Anna (2009). "Recurrent febrile syndromes—what a rheumatologist needs to know". Nature Reviews Rheumatology. 5 (5): 249–256. doi:10.1038/nrrheum.2009.40. ISSN 1759-4790.