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hereditary periodic fever syndrome; periodic fevers; recurrent fever syndrome; familial autoinflammatory disease
Episodes of systemic inflammation in the absence of infection of autoimmunity. [1]
Etiology:
1) familial Mediterranean fever
2) hyperimmunoglobulinemia D with periodic fever syndrome
3) cryopyrin associated periodic syndrome
a) Muckle-Wells syndrome
b) neonatal-onset multisystem inflammatory disease
c) familial cold autoinflammatory syndrome
4) familial hibernian fever
Clinical manifestations:
- intermittent episodes of fever
- other systemic manifestations
a) arthralgia
b) abnominal pain
c) rash
Laboratory:
- see ARUP consult [3]
Differential diagnosis:
- may be cause of fever of unknown origin
Specific
cryopyrin associated periodic syndrome (CAPS)
familial hibernian fever (FHF); tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS)
familial Mediterranean fever (FMF, recurrent polyserositis)
hyper IgD syndrome; hyperimmunoglobulinemia D & periodic fever syndrome; mevalonate kinase deficiency; HIDS
Muckle-Wells syndrome (MWS)
General
fever syndrome
genetic disease of the immune system
genetic syndrome (multisystem disorder)
References
- Medical Knowledge Self Assessment Program (MKSAP) 16, 17.
American College of Physicians, Philadelphia 2012, 2015
- Gattorno M, Martini A.
Beyond the NLRP3 inflammasome: autoinflammatory diseases reach
adolescence.
Arthritis Rheum. 2013 May;65(5):1137-47.
PMID: 23400910
- ARUP consult
Periodic Fever Syndromes Panel, Sequencing and Deletion/Duplication
https://arupconsult.com/ati/Periodic-Fever-Syndromes-Panel