TNF receptor associated periodic syndrome
|TNF receptor associated periodic syndrome|
|Other names||Familial Hibernian fever, Tumor necrosis factor receptor associated periodic syndrome|
|Causes||Mutations in the TNFRSF1A gene|
|Diagnostic method||Blood test, Genetic test|
|Treatment||Corticosteroids, NSAIDS |
TNF receptor associated periodic syndrome (TRAPS) is a periodic fever syndrome associated with mutations in a receptor for the molecule tumor necrosis factor (TNF) that is inheritable in an autosomal dominant manner. Individuals with TRAPS have episodic symptoms such as recurrent high fevers, rash, abdominal pain, joint/muscle aches and puffy eyes.
Symptoms and signs
TNF receptor associated periodic syndrome presents with the following signs and symptoms:
The main source of TNF (tumor necrosis factor) are cells in the immune system called macrophages which produce it in response to infection and other stimuli. TNF helps activate other immune cells and plays a major role in initiation of inflammation.
Individuals with TRAPS have a mutation in the tumor necrosis factor receptor-1 (TNFR1) gene; the mechanisms by which mutations in TNFR1 lead to the TRAPS phenotype are still unknown. Impaired shedding of the TNF receptor is one of the possible defects, most mutations affect the extracellular domain of the receptor, some also the cleavage site.[medical citation needed]
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