Macrophage activation syndrome as the initial manifestation of tumour necrosis factor receptor 1-associated periodic syndrome (TRAPS)

Clin Exp Rheumatol. 2013 May-Jun;31(3 Suppl 77):99-102. Epub 2013 Sep 9.

Abstract

An 11-year-old Turkish girl from a non-consanguineous family was suffering from joint pain, fever, hepatosplenomegaly, and respiratory insufficiency. Laboratory abnormalities were thrombocytopenia, elevated levels of serum transaminases, lactate dehydrogenase, and C-reactive protein (up to 193 mg / l), a hyperferritinaemia of 8030 ng/ml, and an increased sCD25. The tentative diagnosis of macrophage activation syndrome (MAS) was confirmed by the detection of a histiocytosis with haemophagocytosis in the bone marrow. Treatment with dexamethasone, cyclosporine A, and VP16 was successful. However, the diagnosis of MAS on the background of a systemic juvenile idiopathic arthritis was questionable because of recurrent, spontaneously remitting fever phases of 5 to 7 days duration without an obvious infectious aetiology. A positive family history of febrile episodes in three consecutive generations raised the suspicion of a dominantly inherited disease. Genetic studies revealed a likely pathogenetically relevant E56D/p.Glu85Asp mutation in exon 3 of the TNFRSF1A gene. Alterations of the MEFV gene, in contrast, were not found. To our knowledge, this is the first case of a macrophage activation syndrome as the initial manifestation of TRAPS. Similar case reports in patients with the far more common familial Mediterranean fever (FMF) have been published already.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Cyclosporine / therapeutic use
  • DNA Mutational Analysis
  • Dexamethasone / therapeutic use
  • Drug Therapy, Combination
  • Etoposide / therapeutic use
  • Female
  • Fever
  • Genetic Predisposition to Disease
  • Hereditary Autoinflammatory Diseases / complications
  • Hereditary Autoinflammatory Diseases / diagnosis
  • Hereditary Autoinflammatory Diseases / immunology*
  • Heredity
  • Humans
  • Immunosuppressive Agents / therapeutic use
  • Macrophage Activation Syndrome / diagnosis
  • Macrophage Activation Syndrome / genetics
  • Macrophage Activation Syndrome / immunology*
  • Mutation
  • Pedigree
  • Phenotype
  • Receptors, Tumor Necrosis Factor, Type I / genetics
  • Treatment Outcome

Substances

  • Immunosuppressive Agents
  • Receptors, Tumor Necrosis Factor, Type I
  • TNFRSF1A protein, human
  • Etoposide
  • Dexamethasone
  • Cyclosporine

Supplementary concepts

  • Periodic fever, familial, autosomal dominant