Title |
Key facts and hot spots on tumor necrosis factor receptor‐associated periodic syndrome
|
---|---|
Published in |
Clinical Rheumatology, June 2014
|
DOI | 10.1007/s10067-014-2722-z |
Pubmed ID | |
Authors |
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 |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 34 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 6 | 18% |
Other | 4 | 12% |
Student > Ph. D. Student | 4 | 12% |
Student > Postgraduate | 3 | 9% |
Student > Bachelor | 2 | 6% |
Other | 6 | 18% |
Unknown | 9 | 26% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 17 | 50% |
Biochemistry, Genetics and Molecular Biology | 2 | 6% |
Agricultural and Biological Sciences | 2 | 6% |
Immunology and Microbiology | 2 | 6% |
Pharmacology, Toxicology and Pharmaceutical Science | 1 | 3% |
Other | 0 | 0% |
Unknown | 10 | 29% |