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==Overview== | ==Overview== | ||
The symptoms of neonatal-onset multisystem inflammatory disease (NOMID) usually develops during [[infancy]], and start with [[symptoms]] such as continuous often low-grade [[fever]], [[skin rash]], [[neurological]] involvement, and [[arthropathy]]. Some of the possible [[complications]] include, [[renal failure]], [[amyloidosis]], and destructive [[arthropathy]]. [[Prognosis]] of cryopyrin-associated periodic syndrome varies according to the [[clinical]] [[phenotype]] and other factors. | |||
Prognosis | |||
==Natural History, Complications, and Prognosis== | ==Natural History, Complications, and Prognosis== | ||
===Natural History=== | ===Natural History=== | ||
*The symptoms of neonatal-onset multisystem inflammatory disease (NOMID) usually develops during infancy, and start with symptoms such as continuous often low-grade fever, skin rash, | ===Neonatal-onset multisystem inflammatory disease (NOMID)=== | ||
*The symptoms of neonatal-onset multisystem inflammatory disease (NOMID) usually develops during [[infancy]], and start with [[symptoms]] such as continuous often low-grade [[fever]], [[skin rash]], [[neurological]] involvement, and [[arthropathy]].<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> | |||
*Muckle-Wells syndrome (MWS), a moderate phenotype of cryopyrin-associated periodic syndrome, manifests with a typical urticarial rash and fever.<ref name="FingerhutováFráňová2019">{{cite journal|last1=Fingerhutová|first1=Šárka|last2=Fráňová|first2=Jana|last3=Hlaváčková|first3=Eva|last4=Jančová|first4=Eva|last5=Procházková|first5=Leona|last6=Beránková|first6=Kamila|last7=Tesařová|first7=Markéta|last8=Honsová|first8=Eva|last9=Doležalová|first9=Pavla|title=Muckle-Wells Syndrome Across Four Generations in One Czech Family: Natural Course of the Disease|journal=Frontiers in Immunology|volume=10|year=2019|issn=1664-3224|doi=10.3389/fimmu.2019.00802}}</ref> | ===Muckle-Wells syndrome (MWS)=== | ||
*FCAS, the mildest form of CAPS, present in infancy with recurrent, cold-induced episodes of fever, | *Muckle-Wells syndrome (MWS), a moderate [[phenotype]] of cryopyrin-associated periodic syndrome, manifests with a typical [[Urticaria|urticarial]] [[rash]] and [[fever]].<ref name="FingerhutováFráňová2019">{{cite journal|last1=Fingerhutová|first1=Šárka|last2=Fráňová|first2=Jana|last3=Hlaváčková|first3=Eva|last4=Jančová|first4=Eva|last5=Procházková|first5=Leona|last6=Beránková|first6=Kamila|last7=Tesařová|first7=Markéta|last8=Honsová|first8=Eva|last9=Doležalová|first9=Pavla|title=Muckle-Wells Syndrome Across Four Generations in One Czech Family: Natural Course of the Disease|journal=Frontiers in Immunology|volume=10|year=2019|issn=1664-3224|doi=10.3389/fimmu.2019.00802}}</ref> | ||
* | ===FCAS=== | ||
*FCAS, the mildest form of CAPS, present in [[infancy]] with recurrent, cold-induced episodes of fever, [[Urticaria|urticaria-like]] [[skin rash]], [[arthralgia]] and [[conjunctivitis]].<ref name="LevyGérard2015">{{cite journal|last1=Levy|first1=R|last2=Gérard|first2=L|last3=Kuemmerle-Deschner|first3=J|last4=Lachmann|first4=H J|last5=Koné-Paut|first5=I|last6=Cantarini|first6=L|last7=Woo|first7=P|last8=Naselli|first8=A|last9=Bader-Meunier|first9=B|last10=Insalaco|first10=A|last11=Al-Mayouf|first11=S M|last12=Ozen|first12=S|last13=Hofer|first13=M|last14=Frenkel|first14=J|last15=Modesto|first15=C|last16=Nikishina|first16=I|last17=Schwarz|first17=T|last18=Martino|first18=S|last19=Meini|first19=A|last20=Quartier|first20=P|last21=Martini|first21=A|last22=Ruperto|first22=N|last23=Neven|first23=B|last24=Gattorno|first24=M|title=Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry|journal=Annals of the Rheumatic Diseases|volume=74|issue=11|year=2015|pages=2043–2049|issn=0003-4967|doi=10.1136/annrheumdis-2013-204991}}</ref> | |||
*[[Symptoms]] tend to manifest in [[infancy]], but it may present later in life, such as childhood or adolescence.<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> | |||
*Episodes present 1 to 3 hour after [[cold]] or cooling exposure and may take 12 to 24 hours or longer. | |||
===Complications=== | ===Complications=== | ||
*Common complications of neonatal-onset multisystem inflammatory disease (NOMID) include:<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><ref name="HillNamde2006">{{cite journal|last1=Hill|first1=Suvimol Chirathivat|last2=Namde|first2=Madjimbaye|last3=Dwyer|first3=Andrew|last4=Poznanski|first4=Andrew|last5=Canna|first5=Scott|last6=Goldbach-Mansky|first6=Raphaela|title=Arthropathy of neonatal onset multisystem inflammatory disease (NOMID/CINCA)|journal=Pediatric Radiology|volume=37|issue=2|year=2006|pages=145–152|issn=0301-0449|doi=10.1007/s00247-006-0358-0}}</ref> | *Common [[complications]] of neonatal-onset multisystem inflammatory disease (NOMID) include:<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><ref name="HillNamde2006">{{cite journal|last1=Hill|first1=Suvimol Chirathivat|last2=Namde|first2=Madjimbaye|last3=Dwyer|first3=Andrew|last4=Poznanski|first4=Andrew|last5=Canna|first5=Scott|last6=Goldbach-Mansky|first6=Raphaela|title=Arthropathy of neonatal onset multisystem inflammatory disease (NOMID/CINCA)|journal=Pediatric Radiology|volume=37|issue=2|year=2006|pages=145–152|issn=0301-0449|doi=10.1007/s00247-006-0358-0}}</ref> | ||
**Hydrocephalus and increased intracranial pressure | **[[Hydrocephalus]] and [[increased intracranial pressure]] | ||
**Optic nerve atrophy and progressive vision loss | **[[Optic nerve atrophy]] and progressive [[vision loss]] | ||
**Cognitive delay | **[[Developmental delay|Cognitive delay]] | ||
**Deforming arthropathy (30-40% 0f the cases) | **[[Deformity|Deforming]] [[arthropathy]] (30-40% 0f the cases) | ||
**Sensorineural hearing loss | **[[Sensorineural hearing loss]] | ||
**Renal amyloidosis | **Renal [[amyloidosis]] | ||
*The two latter are observed more commonly among those with Muckle-Wells syndrome (MWS).<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> | *The two latter are observed more commonly among those with Muckle-Wells syndrome (MWS).<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> | ||
===Prognosis=== | ===Prognosis=== | ||
*Prognosis of cryopyrin-associated periodic syndrome varies according to the clinical | *[[Prognosis]] of cryopyrin-associated periodic syndrome varies according to the [[clinical]] [[phenotype]] and other factors.<ref name="LevyGérard2015">{{cite journal|last1=Levy|first1=R|last2=Gérard|first2=L|last3=Kuemmerle-Deschner|first3=J|last4=Lachmann|first4=H J|last5=Koné-Paut|first5=I|last6=Cantarini|first6=L|last7=Woo|first7=P|last8=Naselli|first8=A|last9=Bader-Meunier|first9=B|last10=Insalaco|first10=A|last11=Al-Mayouf|first11=S M|last12=Ozen|first12=S|last13=Hofer|first13=M|last14=Frenkel|first14=J|last15=Modesto|first15=C|last16=Nikishina|first16=I|last17=Schwarz|first17=T|last18=Martino|first18=S|last19=Meini|first19=A|last20=Quartier|first20=P|last21=Martini|first21=A|last22=Ruperto|first22=N|last23=Neven|first23=B|last24=Gattorno|first24=M|title=Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry|journal=Annals of the Rheumatic Diseases|volume=74|issue=11|year=2015|pages=2043–2049|issn=0003-4967|doi=10.1136/annrheumdis-2013-204991}}</ref> | ||
*Factors associated with poor outcomes include: | *Factors associated with poor [[Outcome|outcomes]] include: | ||
**Early disease onset (before the age of 6 months) | **Early disease onset (before the age of 6 months) | ||
*Prognosis of NOMID is not generally good, and disabling.<ref name="SridharanMohd Zaki2012">{{cite journal|last1=Sridharan|first1=Radhika|last2=Mohd Zaki|first2=Faizah|last3=Sook Pei|first3=Tan|last4=Swee Ping|first4=Tang|last5=Ibrahim|first5=Sharaf|title=NOMID: The radiographic and MRI features and review of literature|journal=Journal of Radiology Case Reports|volume=6|issue=3|year=2012|issn=1943-0922|doi=10.3941/jrcr.v6i3.745}}</ref> | *[[Prognosis]] of NOMID is not generally good, and disabling.<ref name="SridharanMohd Zaki2012">{{cite journal|last1=Sridharan|first1=Radhika|last2=Mohd Zaki|first2=Faizah|last3=Sook Pei|first3=Tan|last4=Swee Ping|first4=Tang|last5=Ibrahim|first5=Sharaf|title=NOMID: The radiographic and MRI features and review of literature|journal=Journal of Radiology Case Reports|volume=6|issue=3|year=2012|issn=1943-0922|doi=10.3941/jrcr.v6i3.745}}</ref> | ||
*The presence of [[amyloidosis]] is [[Association (statistics)|associated]] with a particularly poor [[prognosis]] among [[patients]] with CAPS. | |||
*The presence of [ | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Latest revision as of 20:38, 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 symptoms of neonatal-onset multisystem inflammatory disease (NOMID) usually develops during infancy, and start with symptoms such as continuous often low-grade fever, skin rash, neurological involvement, and arthropathy. Some of the possible complications include, renal failure, amyloidosis, and destructive arthropathy. Prognosis of cryopyrin-associated periodic syndrome varies according to the clinical phenotype and other factors.
Natural History, Complications, and Prognosis
Natural History
Neonatal-onset multisystem inflammatory disease (NOMID)
- The symptoms of neonatal-onset multisystem inflammatory disease (NOMID) usually develops during infancy, and start with symptoms such as continuous often low-grade fever, skin rash, neurological involvement, and arthropathy.[1]
Muckle-Wells syndrome (MWS)
- Muckle-Wells syndrome (MWS), a moderate phenotype of cryopyrin-associated periodic syndrome, manifests with a typical urticarial rash and fever.[2]
FCAS
- FCAS, the mildest form of CAPS, present in infancy with recurrent, cold-induced episodes of fever, urticaria-like skin rash, arthralgia and conjunctivitis.[3]
- Symptoms tend to manifest in infancy, but it may present later in life, such as childhood or adolescence.[4]
- Episodes present 1 to 3 hour after cold or cooling exposure and may take 12 to 24 hours or longer.
Complications
- Common complications of neonatal-onset multisystem inflammatory disease (NOMID) include:[5][6]
- Hydrocephalus and increased intracranial pressure
- Optic nerve atrophy and progressive vision loss
- Cognitive delay
- Deforming arthropathy (30-40% 0f the cases)
- Sensorineural hearing loss
- Renal amyloidosis
- The two latter are observed more commonly among those with Muckle-Wells syndrome (MWS).[7]
Prognosis
- Prognosis of cryopyrin-associated periodic syndrome varies according to the clinical phenotype and other factors.[3]
- Factors associated with poor outcomes include:
- Early disease onset (before the age of 6 months)
- Prognosis of NOMID is not generally good, and disabling.[8]
- The presence of amyloidosis is associated with a particularly poor prognosis among patients with CAPS.
References
- ↑ 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.
- ↑ Fingerhutová, Šárka; Fráňová, Jana; Hlaváčková, Eva; Jančová, Eva; Procházková, Leona; Beránková, Kamila; Tesařová, Markéta; Honsová, Eva; Doležalová, Pavla (2019). "Muckle-Wells Syndrome Across Four Generations in One Czech Family: Natural Course of the Disease". Frontiers in Immunology. 10. doi:10.3389/fimmu.2019.00802. ISSN 1664-3224.
- ↑ 3.0 3.1 Levy, R; Gérard, L; Kuemmerle-Deschner, J; Lachmann, H J; Koné-Paut, I; Cantarini, L; Woo, P; Naselli, A; Bader-Meunier, B; Insalaco, A; Al-Mayouf, S M; Ozen, S; Hofer, M; Frenkel, J; Modesto, C; Nikishina, I; Schwarz, T; Martino, S; Meini, A; Quartier, P; Martini, A; Ruperto, N; Neven, B; Gattorno, M (2015). "Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry". Annals of the Rheumatic Diseases. 74 (11): 2043–2049. doi:10.1136/annrheumdis-2013-204991. ISSN 0003-4967.
- ↑ Kastner, D. L. (2005). "Hereditary Periodic Fever Syndromes". Hematology. 2005 (1): 74–81. doi:10.1182/asheducation-2005.1.74. ISSN 1520-4391.
- ↑ 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.
- ↑ Hill, Suvimol Chirathivat; Namde, Madjimbaye; Dwyer, Andrew; Poznanski, Andrew; Canna, Scott; Goldbach-Mansky, Raphaela (2006). "Arthropathy of neonatal onset multisystem inflammatory disease (NOMID/CINCA)". Pediatric Radiology. 37 (2): 145–152. doi:10.1007/s00247-006-0358-0. ISSN 0301-0449.
- ↑ 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.
- ↑ Sridharan, Radhika; Mohd Zaki, Faizah; Sook Pei, Tan; Swee Ping, Tang; Ibrahim, Sharaf (2012). "NOMID: The radiographic and MRI features and review of literature". Journal of Radiology Case Reports. 6 (3). doi:10.3941/jrcr.v6i3.745. ISSN 1943-0922.