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Erschienen in: Clinical Rheumatology 9/2014

01.09.2014 | Review Article

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

verfasst von: Donato Rigante, Giuseppe Lopalco, Antonio Vitale, Orso Maria Lucherini, Caterina De Clemente, Francesco Caso, Giacomo Emmi, Luisa Costa, Elena Silvestri, Laura Andreozzi, Florenzo Iannone, Mauro Galeazzi, Luca Cantarini

Erschienen in: Clinical Rheumatology | Ausgabe 9/2014

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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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Metadaten
Titel
Key facts and hot spots on tumor necrosis factor receptor‐associated periodic syndrome
verfasst von
Donato Rigante
Giuseppe Lopalco
Antonio Vitale
Orso Maria Lucherini
Caterina De Clemente
Francesco Caso
Giacomo Emmi
Luisa Costa
Elena Silvestri
Laura Andreozzi
Florenzo Iannone
Mauro Galeazzi
Luca Cantarini
Publikationsdatum
01.09.2014
Verlag
Springer London
Erschienen in
Clinical Rheumatology / Ausgabe 9/2014
Print ISSN: 0770-3198
Elektronische ISSN: 1434-9949
DOI
https://doi.org/10.1007/s10067-014-2722-z

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