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Key facts and hot spots on tumor necrosis factor receptor‐associated periodic syndrome

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Abstract

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS), formerly known as familial Hibernian fever, is the most common autosomal dominant autoinflammatory disease, resulting from mutations in the TNFRSF1A gene, encoding the 55-kD tumor necrosis factor receptor. The pathophysiologic mechanism of TRAPS remains ambiguous and only partially explained. The onset age of the syndrome is variable and the clinical scenery is characterized by recurrent episodes of high-grade fever that typically lasts 1–3 weeks, associated with migrating myalgia, pseudocellulitis, diffuse abdominal pain, appendicitis-like findings, ocular inflammatory signs, and risk of long-term amyloidosis. Fever episodes are responsive to high-dose corticosteroids, but different classes of drugs have been reported to be ineffective. The use of etanercept is unable to control systemic inflammation, while interleukin-1 blockade has been shown as effective in the control of disease activity in many patients reported so far.

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Authors and Affiliations

  1. Institute of Pediatrics, Università Cattolica Sacro Cuore, Rome, Italy

    Donato Rigante & Laura Andreozzi

  2. Interdisciplinary Department of Medicine, Rheumatology Unit, Policlinic Hospital, University of Bari, Bari, Italy

    Giuseppe Lopalco & Florenzo Iannone

  3. Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Rheumatology Unit, Policlinico Le Scotte, University of Siena, Viale Bracci 1, 53100, Siena, Italy

    Antonio Vitale, Orso Maria Lucherini, Caterina De Clemente, Francesco Caso, Mauro Galeazzi & Luca Cantarini

  4. Rheumatology Unit, Department of Medicine DIMED, University of Padua, Padua, Italy

    Francesco Caso

  5. Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy

    Giacomo Emmi & Elena Silvestri

  6. Rheumatology Unit, Department of Clinical Medicine and Surgery, University Federico II, Naples, Italy

    Luisa Costa

Authors
  1. Donato Rigante
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  2. Giuseppe Lopalco
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  3. Antonio Vitale
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  4. Orso Maria Lucherini
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  5. Caterina De Clemente
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  6. Francesco Caso
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  7. Giacomo Emmi
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  8. Luisa Costa
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  9. Elena Silvestri
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  10. Laura Andreozzi
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  11. Florenzo Iannone
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  12. Mauro Galeazzi
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  13. Luca Cantarini
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Corresponding author

Correspondence to Luca Cantarini.

Additional information

Donato Rigante and Giuseppe Lopalco have equally contributed to this manuscript.

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Rigante, D., Lopalco, G., Vitale, A. et al. Key facts and hot spots on tumor necrosis factor receptor‐associated periodic syndrome. Clin Rheumatol 33, 1197–1207 (2014). https://doi.org/10.1007/s10067-014-2722-z

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  • DOI: https://doi.org/10.1007/s10067-014-2722-z

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