European Journal of Pediatrics

, Volume 164, Issue 1, pp 13–16

Etanercept plus colchicine treatment in a child with tumour necrosis factor receptor-associated periodic syndrome abolishes auto-inflammatory episodes without normalising the subclinical acute phase response

  • Juan I. Aróstegui
  • Pilar Solís
  • Anna Aldea
  • Teresa Cantero
  • Josefa Rius
  • Pilar Bahíllo
  • Susana Plaza
  • Jordi Vives
  • Samuel Gómez
  • Jordi Yagüe
Original Paper

DOI: 10.1007/s00431-004-1563-1

Cite this article as:
Aróstegui, J.I., Solís, P., Aldea, A. et al. Eur J Pediatr (2005) 164: 13. doi:10.1007/s00431-004-1563-1

Abstract

We investigated the cause of hereditary periodic fever syndrome in a Spanish child with recurrent long episodes of fever, migratory skin rash, myalgia, arthralgia, conjunctivitis and abdominal pain. Infectious and autoimmune causes were ruled out. No familial history was reported. Analysis of the tumour necrosis factor receptor superfamily 1A ( TNFRSF1A) gene identified a missense mutation (G36E) on exon 3. The absence of this variant in the patient’s parents and in controls identified it as a de novo disease-associated mutation. Clinical symptoms disappeared with administration of etanercept; however, levels of acute-phase reactants remained increased and could not be stabilised by the addition of colchicine. We believe that this patient gained some symptomatic relief with etanercept therapy, although not enough to completely avoid the risk of amyloidosis. Thus it is debatable whether etanercept alone or combined with other drugs, is the treatment of choice for patients with tumour necrosis factor receptor-associated periodic syndrome. Conclusion:Since there is variability in treatment responses among different patients with tumour necrosis factor receptor-associated periodic syndrome, we suggest that a systematic evaluation of acute-phase reactants, especially SAA-1, could be useful in maintaining or modifying a given therapeutic approach in these patients.

Keywords

Auto-inflammatory diseases Hereditary periodic fever syndromes Tumour necrosis factor receptor 1 Tumour necrosis factor receptor-associated periodic syndrome Tumour necrosis factor receptor superfamily 1A gene 

Abbreviations

FMF

familial Mediterranean fever

HIDS

hyper-IgD and periodic fever syndrome

HPFS

hereditary periodic fever syndromes

MWS

Muckle-Wells syndrome

TNF α

tumour necrosis factor α

TNFR1

tumour necrosis factor receptor 1

TRAPS

tumour necrosis factor receptor-associated periodic syndrome

Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  • Juan I. Aróstegui
    • 1
  • Pilar Solís
    • 2
  • Anna Aldea
    • 1
  • Teresa Cantero
    • 2
  • Josefa Rius
    • 1
  • Pilar Bahíllo
    • 2
  • Susana Plaza
    • 1
  • Jordi Vives
    • 1
  • Samuel Gómez
    • 2
  • Jordi Yagüe
    • 1
  1. 1.Servicio de ImmunologiaHospital ClínicBarcelona Spain
  2. 2.Servicio de PediatríaHospital UniversitarioValladolid Spain

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