familial hibernian fever (FHF); tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS)
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Epidemiology
- age at onset:
- 50% < 10 years of age
- up to age 50 years
- no ethnic predilection
Genetics
- associated with defects in TNFRSF1A
- autosomal dominant disease
Clinical manifestations
- recurrent fever
- abdominal pain, serositis
- localized tender skin lesions
- myalgia
- pleurisy
- myocarditis
- sacroiliitis
- arthritis of large joints
- conjunctivitis
- periorbital edema
- attacks last days to weeks[4] generally 7-21 days []
Laboratory
- complete blood count (CBC): leukocytosis
- high ESR
Differential diagnosis
- familial Mediterranean fever
- episodes of fever & serositis generally last 1-3 days
- asymmetric arthritis: knees, ankles & wrists
- no conjunctivitis or periorbital edema
Management
- glucocorticoid
- TNF-alpha inhibitor[4]
- canakinumab (Ilaris) may be helpful in controlling flares[5]
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P19438.html
- ↑ McDermott MF et al Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 97:133-44, 1999 PMID: https://www.ncbi.nlm.nih.gov/pubmed/10199409
- ↑ Trost S & Rose CD Myocarditis and sacroilitis: 2 previously unrecognized manifestations of tumor necrosis factor receptor-associated periodic syndrome. J Rheumatol 2005; 32:175 PMID: https://www.ncbi.nlm.nih.gov/pubmed/15630744
- ↑ Jump up to: 4.0 4.1 4.2 4.3 Medical Knowledge Self Assessment Program (MKSAP) 16, 17, 18. American College of Physicians, Philadelphia 2012, 2015, 2018.
- ↑ Jump up to: 5.0 5.1 De Benedetti F, Gattorno M, Anton J et al Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes. N Engl J Med 2018; 378:1908-1919. May 17, 2018 PMID: https://www.ncbi.nlm.nih.gov/pubmed/29768139 https://www.nejm.org/doi/full/10.1056/NEJMoa1706314
- ↑ NEJM Knowledge+ Complex Medical Care