Article Text

PDF
“Periodic fever” without fever: two cases of non-febrile TRAPS with mutations in the TNFRSF1A gene presenting with episodes of inflammation or monosymptomatic amyloidosis
  1. T Kallinich1,
  2. D Haffner2,
  3. B Rudolph3,
  4. R Schindler4,
  5. S Canaan-Kühl4,
  6. R Keitzer1,
  7. G R Burmester5,
  8. A Roesen-Wolff6,
  9. J Roesler6
  1. 1Department of Paediatric Pulmonology and Immunology, Charité Campus Virchow-Klinikum, Universitaetsmedizin Berlin, Germany
  2. 2Department of Paediatrics, University Hospital Rostock, Germany
  3. 3Department of Pathology, Charité Campus Mitte, Universitaetsmedizin Berlin, Germany
  4. 4Department of Nephrology and Internal Intensive Care Medicine, Charité Campus Virchow-Klinikum, Universitaetsmedizin Berlin, Germany
  5. 5Department of Rheumatology and Clinical Immunology, Charité Campus Mitte, Universitaetsmedizin Berlin, Germany
  6. 6Department of Paediatrics, University Hospital Carl Gustav Carus Dresden, Germany
  1. Correspondence to:
    Dr J Roesler
    Department of Paediatrics, University Hospital Carl Gustav Carus, Fetscherstr, 74, 01307 Dresden, Germany; roeslerj{at}rcs.urz.tu-dresden.de

Abstract

Background: Tumour necrosis factor (TNF) receptor associated periodic syndrome (TRAPS) is caused by dominant mutations in the TNFRSF1A gene. In typical cases TRAPS begins early in childhood and is characterised by high and remittent fever over a period of 1–4 weeks or longer, accompanied by systemic and local inflammation.

Case reports: Patient 1 presented with recurrent episodes of weakness, migrating myalgias, arthralgias, exanthema, and chest pain lasting for 1–4 weeks, but without any fever over an initial period of 4 years at least. Diagnosis of TRAPS was confirmed by the heterozygous mutation Y20H in TNFRSF1A. Patient 2, a 23 year old woman never had any symptoms indicative of TRAPS. Genetic evaluation of all members of her family with a TRAPS index patient disclosed the T50M mutation in TNFRSF1A. A medical check up showed proteinuria, and renal biopsy disclosed AA amyloidosis.

Conclusions: TRAPS associated mutations can induce considerable inflammation that is not necessarily accompanied by fever. Even monosymptomatic severe amyloidosis can occur in these patients. Genetic counselling and appropriate management to prevent or mitigate amyloidosis may be necessary.

  • TNF, tumour necrosis factor
  • TRAPS, tumour necrosis factor receptor associated periodic syndrome
  • TRAPS
  • amyloidosis
  • hereditary periodic fever syndromes

Statistics from Altmetric.com

Footnotes

  • Conflict of interest: None.

  • Published Online First 24 November 2005

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.