Periodic fever syndromes: A diagnostic challenge for the allergist

Allergy: European Journal of Allergy and Clinical Immunology

Volumn 62, Issue 12, 2007, Pages 1349-1358

  Lierl, M ^a  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

Cyclic neutropenia; Familial Mediterranean fever; Hyper IgD syndrome; Periodic fever; PFAPA; Tumor necrosis receptor associated periodic syndrome

Indexed keywords

ANTIINFLAMMATORY AGENT; CIMETIDINE; COLCHICINE; CORTICOSTEROID; CYCLOSPORIN; ETANERCEPT; GAMMA INTERFERON; GRANULOCYTE COLONY STIMULATING FACTOR; IBUPROFEN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; INTERLEUKIN 12P70; INTERLEUKIN 1BETA; INTERLEUKIN 6; MEVALONATE KINASE; PARACETAMOL; PREDNISONE; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; SIMVASTATIN; TUMOR NECROSIS FACTOR ALPHA;

ALLERGIC RHINITIS; ARTHRALGIA; ASTHMA; AUTOINFLAMMATORY DISEASE; CASE REPORT; CERVICAL LYMPHADENOPATHY; CINCA SYNDROME; CLINICAL FEATURE; CYTOKINE PRODUCTION; DIAGNOSTIC ACCURACY; DIAGNOSTIC PROCEDURE; DIFFERENTIAL DIAGNOSIS; DRUG INHIBITION; FAMILIAL COLD AUTOINFLAMMATORY SYNDROME; FAMILIAL MEDITERRANEAN FEVER; GENE MUTATION; HELPER CELL; HUMAN; HYPERIMMUNOGLOBULINEMIA D AND PERIODIC FEVER SYNDROME; IMMUNOSUPPRESSIVE TREATMENT; LABORATORY TEST; LONG TERM CARE; MALE; MEDICAL LITERATURE; MUCKLE WELLS SYNDROME; NEUTROPENIA; PATHOGENESIS; PFAPA SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNOSIS; REVIEW; TONSILLECTOMY; TREATMENT INDICATION; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED PERIODIC SYNDROME;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; FAMILIAL MEDITERRANEAN FEVER; HUMANS; INFANT; LYMPHADENITIS; MALE; PHARYNGITIS; STOMATITIS, APHTHOUS; SYNDROME;

EID: 35748980561     PISSN: 01054538     EISSN: 13989995     Source Type: Journal    
DOI: 10.1111/j.1398-9995.2007.01534.x     Document Type: Review

References (54)

1. Marshall GS, Edwards KM, Butler J, Lawton AR. Syndrome of periodic fever, pharyngitis, and aphthous stomatitis. J Pediatr 1987 110 : 43 46.
2. Feder HM Jr., Bialecki CA. Periodic fever associated with aphthous stomatitis, pharyngitis and cervical adenitis. Pediatr Infect Dis J 1989 8 : 186 187.
3. Miller LC, Sisson BA, Tucker LB, Schaller JG. Prolonged fevers of unknown origin in children: patterns of presentation and outcome. J Pediatr 1996 12 : 419 423.
4. Padeh S, Brezniak N, Zemer D, Pras E, Livneh A, Langevitz P et al. Periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome: clinical characteristics and outcome. J Pediatr 1999 135 : 98 101.
5. Thomas KT, Feder HM, Lawton AR, Edwards KM. Periodic fever syndrome in children. J Pediatr 1999 135 : 15 21.
6. Tasher D, Somekh E, Dalal I. PFAPA syndrome - new clinical aspects revealed. Arch Dis Child 2006 91 : 981 984.
7. Dahn KA, Glode MP, Chan KH. Periodic fever and pharyngitis in young children: a new disease for the otolaryngologist? Arch Otolaryngol Head Neck Surg 2000 126 : 1146 1149.
8. Galanakis E, Papadakis CE, Giannoussi E, Karatzanis AD, Bitsori M, Helidonis ES. PFAPA syndrome in children evaluated for tonsillectomy. Arch Dis Child 2002 86 : 434 435.
9. Berlucci M, Meini A, Plebani A, Bonvini MG, Lombardi D, Nicolai P. Update on treatment of Marshall's syndrome (PFAPA syndrome): report of five cases with review of the literature. Ann Otol Rhinol Laryngol 2003 112 : 365 369.
10. Abramson JS, Givner LB, Thompson JN. Possible role of tonsillectomy and adenoidectomy in children with recurrent fever and tonsillopharyngitis. Pediatr Infect Dis J 1989 8 : 119 120.
11. Ciambra R, Milocco C, Facchini S, Leone V, Locatelli C, Pocecco M. Periodic fever, aphthous stomatitis, pharyngitis and lymphadenopathy: a pediatric caseload. Pediatr Med Chir 2003 25 : 181 184.
12. Pillet P, Ansoborlo S, Carrere A, Perel Y, Guillard JM. (P)FAPA syndrome: interet de la cimetidine. Arch Pediatr 2000 7 : 54 57.
13. Feder HM. Cimetidine treatment for periodic fever associated with aphthous stomatitis, pharyngitis and cervical adenitis. Pediatr Infect Dis J 1992 11 : 318 321.
14. Frye RE. Recurrent aseptic encephalitis in periodic Fever, aphthous stomatitis, pharyngitis and adenopathy (PFAPA) syndrome. Pediatr Infect Dis J 2006 25 : 463 465.
15. Scimeca PG, James-Herry AG, Weinblatt ME. Atypical PFAPA syndrome (periodic fever, aphthous stomatitis, pharyngitis, adenitis) in a young girl with Fanconi anemia. J Pediatr Hematol Oncol 1996 18 : 159 161.
16. Parikh SR, Reiter ER, Kenna MA, Roberson D. Utility of tonsillectomy in 2 patients with the syndrome of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis. Arch Otolaryngol Head Neck Surg 2003 129 : 670 673.
17. Lee WI, Yang MH, Lee KF, Lee KF, Chen LC, Lin SJ et al. PFAPA syndrome (periodic fever, aphthous stomatitis, pharyngitis, adenitis). Clin Rheumatol 1999 18 : 207 213.
18. Rubin LG, Kamani N. Syndrome of periodic fever and pharyngitis (letter). J Pediatr 1987 111 : 307.
19. Stojanov S, Hoffmann F, Kery A, Renner ED, Hartl D, Lohse P et al. Cytokine profile in PFAPA syndrome suggests continuous inflammation and reduced anti-inflammatory response. Eur Cytokine Netw 2006 17 : 90 97.
20. Cazeneuve C, Genevieve D, Amselem S, Hentgen V, Hau I, Reinert P. MEFV gene analysis in PFAPA. J Pediatr 2003 143 : 140 141.
21. Drenth JPH, Cuisset L, Grateau G, Vasseur C, van de Velde-Visser SD, de Jong JGN et al. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. Nat Genet 1999 22 : 178 181.
22. Drenth JPH, Haagsma CJ, Van der Meer JWM, The International Hyper-IgD Study Group. Hyperimmunoglobulinemia D and periodic fever syndrome; the clinical spectrum in a series of 50 patients. Medicine (Baltimore) 2004 73 : 133 144.
23. Haraldsson A, Weemaes CM, De Boer AW, Bakkeren JA, Stoelinga GB. Immunological studies in the hyper-immunoglobulin D syndrome. J Clin Immunol 1992 12 : 424 428.
24. Klasen IS, Goertz JH, van de Wiel GA, Weemaes CM, van der Meer JW, Drenth JP. Hyper-immunoglobulin A in the hyperimmunoglobulinemia D syndrome. Clin Diagn Lab Immunol 2001 8 : 58 61.
25. Simon A, Kremer HPH, Wevers RA, Scheffer H, de Jong JG, van der Meer JWM et al. Mevalonate kinase deficiency; evidence for a phenotypic continuum. Neurology 2004 62 : 994 997.
26. Houten SM, Woerden CSvW, Wijburg FA, Wanders RJA, Waterham HR. Carrier frequency of the V377I (1129G4A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands. Eur J Hum Genet 2002 11 : 196 200.
27. Simon A, Cuisset L, Vincent MF, van der Velde-Visser SD, Delpech M, Van der Meer JWM et al. Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-IgD and periodic fever syndrome: its application as a diagnostic tool. Ann Intern Med 2001 135 : 338 343.
28. Simon A, Drewe E, van der Meer JWM, Powell RF, Kelley RI, Stalenhoef AF et al. Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome. Clin Pharmacol Ther 2004 75 : 476 483.
29. Takada K, Aksentijevich I, Mahadevan V, Dean JA, Kelley RI, Kastner DL. Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis Rheum 2003 48 : 2645 2651.
30. Marchetti F, Barbi E, Tommasini A, Oretti C, Ventura A. Inefficacy of etanercept in a child with hyper-IgD syndrome and periodic fever. Clin Exp Rheumatol 2004 22 : 791 792.
31. Bodar EJ, van der Hilst JCH, Drenth JPH, van der Meer JWM, Simon A. Effect of etanercept and anakinra on inflammatory attacks in the hyper-IgD syndrome: introducing a vaccination provocation model. Neth J Med 2005 63 : 260 264.
32. Horwitz M, Benson KF, Person RE, Aprikyan AG, Dale DC. Neutrophil elastase mutations define a 21-day biological clock in cyclic hematopoiesis. Nat Gen 1999 23 : 433 436.
33. Long SS. Distinguishing among prolonged, recurrent and periodic fever syndromes: approach of a pediatric infectious disease subspecialist. Pediatr Clin N Am 2005 52 : 811 835.
34. Dale DC, Bolyard AA, Aprikyan A. Cyclic neutropenia. Semin Hematol 2002 39 : 89 94.
35. Padeh S. Periodic fever syndromes. Pediatr Clin N Am 2005 52 : 577 609.
36. Pras E, Aksentijevich I, Gruberg L, Balow JE Jr., Prosen L, Dean M et al. Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16. N Engl J Med 1992 326 : 1509 1513.
37. Sohar E, Gafhi J, Pras M, Heller H. Familial Mediterranean fever. A survey of 470 cases and review of the literature. Am J Med 1967 43 : 227 253.
38. Ben-Chetrit E, Levy M. Familial Mediterranean fever. Lancet 1998 351 : 659 664.
39. Heller H, Gafni J, Michaeli D, Shahin N, Sohar E, Ehrlich G et al. The arthritis of familial Mediterranean fever (FMF). Arthritis Rheum 1966 9 : 1 17.
40. Bar-Eli M, Ehrenfeld M, Levy M, Gallily R, Eliakim M. Leukocyte chemotaxis in recurrent polyserositis (familial Mediterranean fever). Am J Med Sci 1981 281 : 15 18.
41. Ozkaya N, Yalcinkaya F. Colchicine treatment in children with familial Mediterranean fever. Clin Rheumatol 2003 22 : 314 317.
42. Hull KM, Drewe E, Aksentijevich I, Singh HK, Wong K, McDermott EM et al. The TNF receptor-associated periodic syndrome (TRAPS); emerging concepts of an autoinflammatory disorder. Medicine 2002 81 : 349 368.
43. Aganna E, Hammond L, Hawkins PN, Aldea A, McKee SA, van Amstel HKP et al. Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes. Arthritis Rheum 2003 48 : 2632 2644.
44. McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade BW, Centola M et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor (TNF-R1) define a family of dominantly inherited autoinflammatory syndromes. Cell 1999 97 : 133 144.
45. Toro JR, Aksentijevich I, Hull K, Kastner DL. Tumor necrosis factor receptor-associated periodic fever syndrome: a novel syndrome with cutaneous manifestations. Arch Dermatol 2000 136 : 1487 1494.
46. Aksentijevich I, Galon J, Soares M, Mansfield E, Hull K, Oh HH et al. The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers. Am J Hum Genet 2001 69 : 301 314.
47. Drewe E, Powell PT, Isaacs JD, Powell RJ. Prospective study of anti-tumor necrosis factor superfamily 1a and 1b fusion proteins in tumor necrosis factor receptor-associated periodic syndrome (TRAPS): clinical and laboratory findings in a series of six patients. Rheumatology 2003 42 : 235 239.
48. Hull KM, Singh HK, Aksentijevich I, O'Shea JJ, Kastner DL. Efficacy in the TNF receptor-associated periodic syndrome (TRAPS): results from an ongoing clinical trial. Arthritis Rheum 2001 44 (Suppl. 9 SY11.
49. Derbes VJ, Coleman WP. Familial cold urticaria. Ann Allergy 1972 30 : 335 341.
50. Porksen G, Lohse P, Rosen-Wolff A, Heyden S, Förster T, Wendisch J et al. Periodic fever, mild arthralgias, and reversible moderate and severe organ inflammation associated with the V198 M mutation in the CIAS1 gene in three German patients - expanding phenotype of CIAS1 related autoinflammatory syndrome. Eur J Haematol 2004 73 : 123 127.
51. Muckle TJ, Wells M. Urticaria, deafness and amyloidosis: a new heredo-familial syndrome. QJM 1962 31 : 235.
52. Prieur AM. A recently recognized chronic inflammatory disease of early onset characterized by the triad of rash, central nervous system involvement and arthropathy. Clin Exp Rheumatol 2001 19 : 103 106.
53. Goldbach-Mansky R, Dailey NJ, Canna SW, Gelabert A, Jones J, Rubin BI et al. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. N Engl J Med 2006 355 : 581 592.
54. Stack JH, Beaumont K, Larsen PD, Straley KS, Henkel GW, Randle JC et al. IL-converting enzyme/capsase-1 inhibitor VX-765 blocks the hypersensitive response to an inflammatory stimulus in monocytes from familial cold autoinflammatory syndrome patients. J Immunol 2005 175 : 2630 2634.