Tumour necrosis factor receptor-associated periodic syndrome
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Tumour necrosis factor receptor-associated periodic syndrome (commonly known as TRAPS) is a condition characterised by recurrent episodes of fever. These fevers typically last about 3 weeks but can last from a few days to a few months. The frequency of the episodes varies greatly among affected individuals; fevers can occur anywhere between every 6 weeks to every few years. Some individuals can go many years without having a fever episode. Fever episodes usually occur spontaneously, but sometimes they can be brought on by a variety of triggers, such as minor injury, infection, stress, exercise, or hormonal changes.
Descrição
Tumour necrosis factor receptor-associated periodic syndrome (commonly known as TRAPS) is a condition characterised by recurrent episodes of fever. These fevers typically last about 3 weeks but can last from a few days to a few months. The frequency of the episodes varies greatly among affected individuals; fevers can occur anywhere between every 6 weeks to every few years. Some individuals can go many years without having a fever episode. Fever episodes usually occur spontaneously, but sometimes they can be brought on by a variety of triggers, such as minor injury, infection, stress, exercise, or hormonal changes.
During episodes of fever, people with TRAPS can have additional signs and symptoms. These include abdominal and muscle pain and a spreading skin rash, typically found on the limbs. Affected individuals may also experience puffiness or swelling in the skin around the eyes (periorbital edema); joint pain; and inflammation in various areas of the body including the eyes, heart muscle, certain joints, throat, or mucous membranes such as the moist lining of the mouth and digestive tract. Occasionally, people with TRAPS develop amyloidosis, an abnormal buildup of a protein called amyloid in the kidneys that can lead to kidney failure. It is estimated that 15 to 20 percent of people with TRAPS develop amyloidosis, typically in mid-adulthood.
The fever episodes characteristic of TRAPS can begin at any age, from infancy to late adulthood, but most people have their first episode in childhood.
Padrões de herança
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Autosomal dominant familial periodic fever
Familial Hibernian fever
FPF
TNF receptor-associated periodic fever syndrome
TRAPS
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Leitura adicional e referências
- Tumour necrosis factor receptor-associated periodic syndrome; MedlinePlus, National Library of Medicine.
- Aganna E, Hammond L, Hawkins PN, Aldea A, McKee SA, van Amstel HK, Mischung C, Kusuhara K, Saulsbury FT, Lachmann HJ, Bybee A, McDermott EM, La Regina M, Arostegui JI, Campistol JM, Worthington S, High KP, Molloy MG, Baker N, Bidwell JL, Castaner JL, Whiteford ML, Janssens-Korpola PL, Manna R, Powell RJ, Woo P, Solis P, Minden K, Frenkel J, Yague J, Mirakian RM, Hitman GA, McDermott MF. Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes. Arthritis Rheum. 2003 Sep;48(9):2632-44. doi: 10.1002/art.11215.
- Greco E, Aita A, Galozzi P, Gava A, Sfriso P, Negm OH, Tighe P, Caso F, Navaglia F, Dazzo E, De Bortoli M, Rampazzo A, Obici L, Donadei S, Merlini G, Plebani M, Todd I, Basso D, Punzi L. The novel S59P mutation in the TNFRSF1A gene identified in an adult onset TNF receptor associated periodic syndrome (TRAPS) constitutively activates NF-kappaB pathway. Arthritis Res Ther. 2015 Apr 3;17(1):93. doi: 10.1186/s13075-015-0604-7.
- Kimberley FC, Lobito AA, Siegel RM, Screaton GR. Falling into TRAPS--receptor misfolding in the TNF receptor 1-associated periodic fever syndrome. Arthritis Res Ther. 2007;9(4):217. doi: 10.1186/ar2197.
- Masson C, Simon V, Hoppe E, Insalaco P, Cisse I, Audran M. Tumor necrosis factor receptor-associated periodic syndrome (TRAPS): definition, semiology, prognosis, pathogenesis, treatment, and place relative to other periodic joint diseases. Joint Bone Spine. 2004 Jul;71(4):284-90. doi: 10.1016/j.jbspin.2003.10.008.
- Pettersson T, Kantonen J, Matikainen S, Repo H. Setting up TRAPS. Ann Med. 2012 Mar;44(2):109-18. doi: 10.3109/07853890.2010.548399. Epub 2011 Feb 1.
- Rebelo SL, Bainbridge SE, Amel-Kashipaz MR, Radford PM, Powell RJ, Todd I, Tighe PJ. Modeling of tumor necrosis factor receptor superfamily 1A mutants associated with tumor necrosis factor receptor-associated periodic syndrome indicates misfolding consistent with abnormal function. Arthritis Rheum. 2006 Aug;54(8):2674-87. doi: 10.1002/art.21964.
- Rezaei N. TNF-receptor-associated periodic syndrome (TRAPS): an autosomal dominant multisystem disorder. Clin Rheumatol. 2006 Nov;25(6):773-7. doi: 10.1007/s10067-005-0198-6. Epub 2006 Jan 26.
- Wong KK, Jackson J, Whidborne R, Mallon D, Bennetts B, D'Orsogna LJ. Autosomal recessive transmission of TRAPS in a family with a novel TNFRSF1A mutation. Scand J Rheumatol. 2015 May;44(3):255-6. doi: 10.3109/03009742.2015.1005663. Epub 2015 Mar 6. No abstract available.
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