Cryopyrin-associated periodic syndrome natural history, complications and prognosis
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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.