Macrophage activation syndrome as the initial manifestation of tumour necrosis factor receptor 1-associated periodic syndrome (TRAPS).
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.
Center for Paediatric Rheumatology, Asklepios Clinic Sankt Augustin, Arnold-Janssen-Str. 29, 53757 Sankt Augustin, Germany. g.horneff@asklepios.com.
Gerd
G
Horneff
Asma
A
Rhouma
Carola
C
Weber
Peter
P
Lohse
D002648:Child; D016572:Cyclosporine / Q000627:therapeutic use; D004252:DNA Mutational Analysis; D003907:Dexamethasone / Q000627:therapeutic use; D004359:Drug Therapy, Combination; D005047:Etoposide / Q000627:therapeutic use; D005260:Female; D005334:Fever; D020022:Genetic Predisposition to Disease; D056660:Hereditary Autoinflammatory Diseases / Q000150:complications / Q000175:diagnosis / Q000276:immunology*; D040941:Heredity; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D055501:Macrophage Activation Syndrome / Q000175:diagnosis / Q000235:genetics / Q000276:immunology*; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D047888:Receptors, Tumor Necrosis Factor, Type I / Q000235:genetics; D016896:Treatment Outcome
D007166:Immunosuppressive Agents; D047888:Receptors, Tumor Necrosis Factor, Type I; C506235:TNFRSF1A protein, human; D005047:Etoposide; D003907:Dexamethasone; D016572:Cyclosporine