Abstract
Hyperimmunoglobulinemia D/periodic fever syndrome is caused by recessively inherited mutations in the mevalonate kinase gene and is characterized by persistently high polyclonal serum IgD titre and recurrent febrile attacks. No conventional therapy exists for preventing the typical recurrent inflammatory picture of patients. A host of studies have evidenced that elevated levels of various cytokines, such as interleukin-1 (IL-1), mark febrile attacks in this disease and that IL-1 might represent a suitable therapeutic target. We describe the case of a 7-year-old female-child with an established diagnosis of hyperimmunoglobulinemia D/periodic fever syndrome in whom anakinra, IL-1 receptor antagonist, was daily administered at the dosage of 1 mg/kg/day by subcutaneous injection for 18 months after numerous disappointing attempts with non-steroidal anti-inflammatory drugs, steroids, colchicine and etanercept through the years. The clinical response under anakinra treatment was recorded through a standardized diary, whilst inflammation parameters were serially measured in comparison with the half-year before starting anakinra. Frequency and severity of fever attacks were totally reduced by anakinra and this is the first child demonstrating that symptoms of hyperimmunoglobulinemia D/periodic fever syndrome might be at least extenuated by anakinra, though not abolished.
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References
Picco P, Gattorno M, Di Rocco M, Buoncompagni A (2001) Non-steroidal anti-inflammatory drugs in the treatment of hyper-IgD syndrome. Ann Rheum Dis 60:904
van der Meer JW, Vosse JM, Radl J, van Nieuwkoop JA, Meyer CJ, Lobato S, van Furth R (1984) Hyperimmunoglobulinaemia D and periodic fever: a new syndrome. Lancet 1:1087–1090
D’Osualdo A, Picco P, Caroli F, Gattorno M, Giacchino R, Fortini P, Corona F, Tommasini A, Salvi G, Specchia F, Obici L, Meini A, Ricci A, Seri M, Ravazzolo R, Martini A, Ceccherini I (2005) MVK mutations and associated clinical features in Italian patients affected with autoinflammatrory disorders and recurrent fever. Eur J Hum Genet 13:314–320
Houten SM, van Woerden CS, Wijburg FA, Wanders RJ, Waterham HR (2003) Carrier frequency of the V377I (1129G>A) MVK mutation, associated with hyper-IgD and periodic fever syndrome, in the Netherlands. Eur J Hum Genet 11:196–200
Frenkel J, Houten SM, Waterham HR, Wanders RJA, Rijkers GT, Kimpen JLL, Duran R, Poll-The BT, Kuis W (2000) Mevalonate kinase deficiency and Dutch type periodic fever. Clin Exp Rheumatol 18:525–532
Simon A, Kremer HP, Wevers RA, Scheffer H, De Jong JG, Van der Meer JW, Drenth JP (2004) Mevalonate kinase deficiency: evidence for a phenotypic continuum. Neurology 62:994–997
de Dios Garcia-Diaz J, Alvarez-Blanco MJ (2001) Glucocorticoids but not NSAID abort attacks in hyper-IgD and periodic fever syndrome. J Rheumatol 28:925–926
Drenth JP, Vonk AG, Simon A, Powell R, van der Meer JW (2001) Limited efficacy of thalidomide in the treatment of febrile attacks of the hyper-IgD and periodic fever syndrome: a randomized, double-blind, placebo-controlled trial. J Pharmacol Exp Ther 298:1221–1226
Takada K, Aksentijevich I, Mahadevan V, Dean JA, Kelley RI, Kastner DL (2003) Favorable preliminary experience with etanercept in two patients with the hyperimunoglobulinemia D and periodic fever syndrome. Arthritis Rheum 48:2645–2651
Simon A, Drewe E, van der Meer JW, Powell RJ, Kelley RI, Stalenhoef AF, Drenth JP (2004) Simvastatin treatment for inflammatory attacks of the hyperimunoglobulinaemia D and periodic fever syndrome. Clin Pharmacol Ther 75:476–483
Cohen SB (2004) The use of anakinra, an interleukin-1 receptor antagonist, in the treatment of rheumatoid arthritis. Rheum Dis Clin North Am 30:365–380
Langer HE, Missler-Karger B (2003) Kineret: efficacy and safety in daily clinical practice: an interim analysis of the Kineret response assessment initiative (kreative) protocol. Int J Clin Pharmacol Res 23:119–128
Hoffman HM, Rosengren S, Boyle DL, Cho JY, Nayar J, Mueller JL, Anderson JP, Wanderer AA, Firestein GS (2004) Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist. Lancet 364:1779–1785
Hawkins PN, Lachmann HJ, Aganna E, McDermott MF (2004) Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthritis Rheum 50:607–612
Granel B, Serratrice J, Disdier P, Weiller PJ (2005) Dramatic improvement with anakinra in a case of chronic infantile neurological cutaneous and articular (CINCA) syndrome. Rheumatology 44:689–690
Bodar EJ, van der Hilst JC, Drenth JP, van der Meer JW, Simon A (2005) Effect of etanercept and anakinra on inflammatory attacks in the hyper-IgD syndrome: introducing a vaccination provocation model. Neth J Med 63:260–264
Acknowledgments
We thank Miriam Del Prete for her technical support in the manuscript preparation and the whole Department “Pediatria 2” of our University where the reported child has been so far hospitalized.
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Rigante, D., Ansuini, V., Bertoni, B. et al. Treatment with anakinra in the hyperimmunoglobulinemia D/periodic fever syndrome. Rheumatol Int 27, 97–100 (2006). https://doi.org/10.1007/s00296-006-0164-x
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DOI: https://doi.org/10.1007/s00296-006-0164-x