TRAPS, síndrome periódico asociado al receptor de necrosis tumoral: inmunopatogénesis y enfoque clínico

Abstract

Tumor necrosis factor receptor periodic syndrome (TRAPS) is characterized by episodes of fever of more than 10 days of duration, migratory myalgias, pseudocellulitis, abdominal pain and bipalpebral edema. It´s main complication is amyloidosis and renal failure caused by the chronic inflammatory state. It is an autosomal dominant disease, by mutation in the TNFRSF1A gene encoding tumor necrosis factor (TNF) receptor 1. Among the hypotheses to explain the disease have been proposed the alteration in the release of the mutated TNF receptor; the activation of nuclear factor enhancer of the kappa light chains of independently activated B cells (NFkB); poorly folded proteins, and alterations in the traffic of the mutated receptor. All of them, leading to the accumulation of reactive oxygen species and defects in cell death by autophagy and apoptosis. Many efforts have been directed to discover the immunopathogenic bases of TRAPS, which has been hampered by the high number of mutations found, which translate different mechanisms and forms of presentation of the disease. The treatment is based on the blockade of TNF and interleukin-1 (IL-1). The better understanding of immunopathogenesis could allow better monitoring of patients and the use of other therapies.