#PAGE_PARAMS# #ADS_HEAD_SCRIPTS# #MICRODATA#

Periodic Fever Syndromes


Authors: P. Król 1;  R. Katra 2;  P. Doležalová 1
Authors‘ workplace: Klinika dětského a dorostového lékařství UK 1. LF a VFN, Praha přednosta prof. MUDr. J. Zeman, DrSc. 1;  Klinika ušní, nosní a krční UK 2. LF a FN Motol, Praha přednosta doc. MUDr. Z. Kabelka 2
Published in: Čes-slov Pediat 2009; 64 (10): 480-487.
Category: Review

Overview

Periodic fever syndromes are clinical entities classified as autoinflammatory diseases. A relatively new group of periodic fever syndromes are characterised by failure of innate immunity mechanisms. Recurrent episodes of fever are accompanied by local inflammation.

They include two autosomal dominant disorders:
CAPS (Cryopyrin Associated Periodic Syndromes) and TRAPS (TNFR-Associated Periodic Syndrome) and autosomal recessive ones: FMF (Familiar Mediterranean Fever) and MAPS (Mevalonate kinase Associated Periodic fever Syndrome). PFAPA (Periodic Fever, Aphthous stomatitis, Pharyngitis a Adenitis) syndrome is an idiopathic disease with unknown aetiology.

Key words:
periodic fever, innate immunity, inflammation


Sources

1. Heberden W. Commentaries on history and care of disease. London, 1806: 151.

2. Janeway TC, Mosenthal HO. An unusual paroxysmal syndrome, probably allied to recurrent vomiting, with a study of the nitrogen metabolism. Trans. Ass. Am. Phys. 1908;23: 504–518.

3. Reimann HA. Periodic disease. Probable syndrome including periodic fever, benign paroxysmal peritonitis, cyclic neutropenia and intermittent arthralgia. JAMA 1948;141: 239–244.

4. Marshall GS, Edwards KM, Lawton AR. PFAPA syndrome. Pediatr. Infect. Dis. J. 1989;8(9): 658–659.

5. Hofer M, et al. PFAPA (Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis) syndrome registry: analysis of a cohort of 214 patients, in FMFSAID. Clin. Exp. Rheumatol. 2008;23(2): 273–274.

6. Hofer MF, et al. International PFAPA syndrome registry: cohort of 214 patients. Pediatric Rheumatology 2008;6(Suppl 1): P182.

7. Renko M, et al. A randomized, controlled trial of tonsillectomy in periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome. J. Pediatr. 2007;151(3): 289–292.

8. Licameli G, et al. Effect of adenotonsillectomy in PFAPA syndrome. Arch. Otolaryngol. Head Neck Surg. 2008;134(2): 136–140.

9. Hofer MGM, Cochard M, Anton J, et al. PFAPA (periodic fever, oral aphtae, pharyngitis and cervical adenitis) syndrome: a new consensus on diagnostic criteria. Ann. Rheum. Dis. 2009;68(Suppl 3): 705.

10. 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 1999;97(1): 133–144.

11. Siebert S, et al. Reduced tumor necrosis factor signaling in primary human fibroblasts containing a tumor necrosis factor receptor superfamily 1A mutant. Arthritis Rheum. 2005;52(4): 1287–1292.

12. Drewe E, et al. Prospective study of anti-tumour necrosis factor receptor superfamily 1B fusion protein, and case study of anti-tumour necrosis factor receptor superfamily 1A fusion protein, in tumour necrosis factor receptor associated periodic syndrome (TRAPS): clinical and laboratory findings in a series of seven patients. Rheumatology (Oxford) 2003;42(2): 235–239.

13. van der Meer JWVM, Radl J, van Nieuwkoop JA, Meyer CJ, Lobatto S, van Furth R. Hyperimmunoglobulinaemia D and periodic fever: a new syndrome. Lancet 1984;19(1): 1087–1090.

14. Prieur AM, Griscelli C. Nosologic aspects of systemic forms of very-early-onset juvenile arthritis. Apropos of 17 cases. Sem. Hop. 1984;60(3): 163–167.

15. Geny B, Griscelli C, Mozziconacci P. Immunoglobulin D (IgD) in childhood. II. Serum IgD levels in juvenile rheumatoid arthritis. Biomedicine 1974;20(2): 125–130.

16. Driesen O, Voute PA Jr, Vermeulen A. A description of two brothers with permanently raised non-esterified aetiocholanolone blood level. Acta Endocrinol. (Copenh.) 1968;57(2): 177–186.

17. Drenth JP, et al. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Nat. Genet. 1999;22(2): 178–181.

18. Houten SM, Wanders RJ, Waterham HR. Biochemical and genetic aspects of mevalonate kinase and its deficiency. Biochim. Biophys. Acta 2000;1529(1–3): 19–32.

19. Cuisset L, et al. Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome. Eur. J. Hum. Genet. 2001;9(4): 260–266.

20. Houten SM, Frenkel J, Waterham HR. Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation. Cell Mol. Life Sci. 2003;60(6): 1118–1134.

21. Goldstein JL, Brown MS. Regulation of mevalonate pathway. Nature 1990;(343): 425–430.

22. Frenkel J, et al. Lack of isoprenoid products raises ex vivo interleukin-1beta secretion in hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis Rheum. 2002;46(10): 2794–2803.

23. Houten SM, et al. Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome. Hum. Mol. Genet. 2002;11(25): 3115–3124.

24. Drenth JP, et al. Cutaneous manifestations and histologic findings in the hyperimmunoglobulinemia D syndrome. International Hyper IgD Study Group. Arch. Dermatol. 1994;130(1): 59–65.

25. Drenth JP, Haagsma CJ, van der Meer JW. Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group. Medicine (Baltimore) 1994;73(3): 133–144.

26. Drenth JP, et al. Interferon-gamma and urine neopterin in attacks of the hyperimmunoglobulinaemia D and periodic fever syndrome. Eur. J. Clin. Invest. 1995;25(9): 683–686.

27. Simon A, et al. Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome. Clin. Pharmacol. Ther. 2004;75(5): 476–483.

28. Takada K, et al. Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis Rheum. 2003;48(9): 2645–2651.

29. Arkwright PD, et al. Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept. Clin. Exp. Immunol. 2002;130(3): 484–488.

30. Marchetti F, et al. Inefficacy of etanercept in a child with hyper-IgD syndrome and periodic fever. Clin. Exp. Rheumatol. 2004;22(6): 791–792.

31. Gumucio DL, et al. Fire and ICE: the role of pyrin domain-containing proteins in inflammation and apoptosis. Clin. Exp. Rheumatol. 2002;20(4 Suppl 26): S45–53.

32. Chae JJ, et al. Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis. Mol. Cell 2003;11(3): 591–604.

33. Chae JJ, et al. The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production. Proc. Natl. Acad. Sci. (USA) 2006;103(26): 9982–9987.

34. Yu JW, et al. Cryopyrin and pyrin activate caspase-1, but not NF-kappaB, via ASC oligomerization. Cell Death Differ. 2006;13(2): 236–249.

35. Ozkaya N, Yalcinkaya F. Colchicine treatment in children with familial Mediterranean fever. Clin. Rheumatol. 2003;22(4-5): 314–317.

36. Livneh A, et al. Colchicine prevents kidney transplant amyloidosis in familial Mediterranean fever. Nephron 1992;60(4): 418–422.

37. Zemer D, et al. Colchicine in the prevention and treatment of the amyloidosis of familial Mediterranean fever. N. Engl. J. Med. 1986;314(16): 1001–1005.

38. Roldan R, et al. Anakinra: new therapeutic approach in children with Familial Mediterranean Fever resistant to colchicine. Joint Bone Spine 2008;75(4): 504–505.

39. Moser C, et al. Successful treatment of familial Mediterranean fever with Anakinra and outcome after renal transplantation. Nephrol. Dial. Transplant. 2009;24(2): 676–678.

40. Aksentijevich I, et al. De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis Rheum. 2002;46(12): 3340–3348.

41. Boschan C, et al. Neonatal-onset multisystem inflammatory disease (NOMID) due to a novel S331R mutation of the CIAS1 gene and response to interleukin-1 receptor antagonist treatment. Am. J. Med. Genet. A 2006;140(8): 883–886.

42. Feldmann J, et al. Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am. J. Hum. Genet. 2002;71(1): 198–203.

43. O’Connor W Jr, et al. Cutting edge: CIAS1/cryopyrin/ PYPAF1/NALP3/CATERPILLER 1.1 is an inducible inflammatory mediator with NF-kappa B suppressive properties. J. Immunol. 2003;171(12): 6329–6333.

44. Prieur AM, et al. A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome. A specific entity analysed in 30 patients. Scand. J. Rheumatol. 1987;66(Suppl): 57–68.

45. Hawkins PN, et al. Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthritis Rheum. 2004;50(2): 607–612.

46. Callejas JL, et al. Anakinra in mutation-negative CINCA syndrome. Clin. Rheumatol. 2007;26(4): 576–577.

47. Hawkins PN, et al. Response to anakinra in a de novo case of neonatal-onset multisystem inflammatory disease. Arthritis Rheum. 2004;50(8): 2708–2709.

Labels
Neonatology Paediatrics General practitioner for children and adolescents
Topics Journals
Login
Forgotten password

Enter the email address that you registered with. We will send you instructions on how to set a new password.

Login

Don‘t have an account?  Create new account

#ADS_BOTTOM_SCRIPTS#