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Mevalonate kinase deficiency in two sisters with therapeutic response to anakinra: case report and review of the literature

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Abstract

Mevalonate kinase deficiency (MKD) is a rare, hereditary autoinflammatory condition characterized by recurrent inflammatory episodes. Depending on the residual mevalonate kinase activity, the clinical spectrum ranges from a relatively mild periodic fever syndrome to a lethal metabolic disease. Data on therapeutic options for MKD are currently limited and rely generally on case reports and small series. Recent reports show promising results with anakinra and etanercept to treat the attacks. We report two sisters treated with good, but partial response, to continuous daily anakinra (interleukin-1 receptor antagonist).

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References

  1. Shendi HM, Walsh D, Edgar JD (2012) Etanercept and anakinra can prolong febrile episodes in patients with hyperimmunoglobulin D and periodic fever syndrome. Rheumatol Int 32:249–251

    Article  PubMed  Google Scholar 

  2. Prietsch V, Mayatepek E, Krastel H, Haas D, Zundel D, Waterham HR, Wanders RJ, Gibson KM, Hoffman GF (2003) Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum. Paediatrics 111:258–261

    Article  Google Scholar 

  3. Drenth JPH, Cuisset L, Grateau G et al (1999) Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. Nat Genet 22:178–181

    Article  PubMed  CAS  Google Scholar 

  4. Stankovic K, Grateau G (2007) Auto inflammatory syndromes: diagnosis and treatment. Joint Bone Spine 74:544–550

    Article  PubMed  Google Scholar 

  5. Gattorno M, Federici S, Pelagatti MA et al (2008) Diagnosis and management of autoinflammatory diseases in childhood. J Clin Immunol 28(S1):S73–S83

    Article  PubMed  Google Scholar 

  6. Drenth JPH, Haagsma CJ, van der Meer JW (1994) Hyperimmunoglobulinaemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International hyper-IgD study group. Medicine 73:133–144

    Article  PubMed  CAS  Google Scholar 

  7. van der Hilst JC, Bodar EJ, Barron KS et al (2008) Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulin D syndrome. Medicine 87:301–310

    Article  PubMed  Google Scholar 

  8. Bader-Meunier B, Florkin B, Sibilia J et al (2011) Mevalonate kinase deficiency: a survey of 50 patients. Pediatrics 28:e152–e159

    Article  Google Scholar 

  9. Simon A, Drewe E, van der Meer JW et al (2004) Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome. Clin Pharmacol Ther 75:476–483

    Article  PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

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

    PubMed  CAS  Google Scholar 

  12. van der Hilst JC, Frenkel J (2010) Hyperimmunoglobulin D syndrome in childhood. Curr Rheumatol Rep 12:101–107

    Article  PubMed  Google Scholar 

  13. Mandey SH, Kuijk LM, Frenkel J, Waterham HR (2006) A role for geranylgeranylation in interleukin-1beta secretion. Arthritis Rheum 54:3690–3695

    Article  PubMed  CAS  Google Scholar 

  14. Kuijk LM, Mandey SH, Schellens I et al (2008) Statin synergizes with LPS to induce IL-1beta release by THP-1 cells through activation of caspase-1. Mol Immunol 45:2158–2165

    Article  PubMed  CAS  Google Scholar 

  15. Kuijk LM, Beekman JM, Koster J et al (2008) HMG-CoA reductase inhibition induces IL-1beta release through Rac1/PI3K/PKB-dependent caspase-1 activation. Blood 112:3563–3573

    Article  PubMed  CAS  Google Scholar 

  16. Normand S, Massonnet B, Delwail A et al (2009) Specific increase in caspase-1 activity and secretion of IL-1 family cytokines: a putative link between mevalonate kinase deficiency and inflammation. Eur Cytokine Netw 20:101–107

    PubMed  CAS  Google Scholar 

  17. Ter Haar N, Lachmann H, Özen S et al (2013) Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review. Ann Rheum Dis 72:678–685

    Article  PubMed  Google Scholar 

  18. Galeotti C, Meinzer U, Quartier P et al (2012) Efficacy of interleukin-1-targeting drugs in mevalonate kinase deficiency. Rheumatology 51:1855–1859

    Article  PubMed  CAS  Google Scholar 

  19. Bodar EJ, Kuijk LM, Drenth JPH et al (2011) On-demand anakinra treatment is effective in mevalonate kinase deficiency. Ann Rheum Dis 70:2155–2158

    Article  PubMed  CAS  Google Scholar 

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Disclosures

Raquel Marques—none; Paul Brogan—has received consultancy fees from Roche and Sobi and an institutional grant from Novartis.

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Authors and Affiliations

  1. Rheumatology Department, Lisbon Academic Medical Centre, Lisbon, Portugal

    Raquel Campanilho-Marques

  2. Paediatric Rheumatology Department, Great Ormond Street Hospital, NHS Foundation Trust and UCL Institute of Child Health, Great Ormond St, London, WC1N 3JH, UK

    Raquel Campanilho-Marques & Paul A. Brogan

  3. Rheumatology Department, Lisbon Academic Medical Centre, Avenida Professor Egas Moniz, 1649-035, Lisbon, Portugal

    Raquel Campanilho-Marques

Authors
  1. Raquel Campanilho-Marques
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  2. Paul A. Brogan
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Correspondence to Raquel Campanilho-Marques.

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Campanilho-Marques, R., Brogan, P.A. Mevalonate kinase deficiency in two sisters with therapeutic response to anakinra: case report and review of the literature. Clin Rheumatol 33, 1681–1684 (2014). https://doi.org/10.1007/s10067-014-2523-4

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  • DOI: https://doi.org/10.1007/s10067-014-2523-4

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