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Se puede definir la fiebre periódica como la aparición deepisodios recurrentes de fiebre cuya duración oscila entreunos pocos días y varias semanas, separados por períodosvariables en los que el paciente se mantiene asintomáticoy que se van repitiendo a lo largo de meses. Estoscuadros son poco frecuentes en la práctica diaria, pero enocasiones plantean importantes problemas de diagnósticodiferencial con infecciones recurrentes, cáncer y enfermedadesdel tejido conjuntivo. El propósito de esta revisiónes agrupar los diferentes cuadros clínicos, descritosde forma dispersa en la bibliografía, para obtener una visiónglobal, y al mismo tiempo pormenorizada.
Se han dividido estos procesos en dos categorías: hereditarios(fiebre mediterránea familiar, síndrome hiperinmunoglobulemiaD [hiper-IgD], síndrome de fiebre periódicaasociado al factor de necrosis tumoral, síndrome deMuckle-Wells y urticaria familiar por frío) y no hereditarios(síndrome de fiebre periódica, faringitis, estomatitisaftosa y adenitis [síndrome PFAPA], neutropenia cíclica,síndrome neurológico, cutáneo y articular crónico de lainfancia [síndrome CINCA], enfermedad de Castleman, sarcoidosisinfantil precoz y síndrome de Blau). Aunque eldiagnóstico es fundamentalmente clínico, en los últimosaños se han realizado numerosos avances en el conocimientode las bases moleculares y genéticas de los procesoshereditarios, que representan una ayuda importantepara establecer el diagnóstico y mejorar el tratamiento.
Palabras clave:
Fiebre periódica
Fiebre mediterránea familiar
Síndrome hiper-IgD
Receptor de factor de necrosis tumoral (TNF)
Síndrome de Muckle-Wells
Síndrome PFAPA
Síndrome CINCA
Neutropenia cíclica
Síndrome de Blau
Enfermedad de Castleman
Periodic fever can be defined as recurrent episodes offever lasting from a few days to several weeks separated bysymptom-free intervals of variable duration, recurringthroughout several months. Although these clinical picturesare unusual in clinical practice, in some instancesthe differential diagnosis with recurrent infections, malignanciesand connective tissue diseases is difficult. Theaim of this review is to group together these different clinicalpictures, which are dispersed in the literature, to obtainan overall and detailed perspective.
We classified these processes in two categories: hereditary(familial Mediterranean fever, hyper-IgD syndrome,tumor necrosis factor-receptor-associated periodic syndrome,Muckle-Wells syndrome and familial cold urticaria)and non-hereditary (periodic fever, aphthousstomatitis, pharyngitis, and adenopathy syndrome [PFAPAsyndrome], cyclic neutropenia, chronic infantile neurologicalcutaneous and articular syndrome [CINCA syndrome],Castleman's disease, early onset sarcoidosis andBlau syndrome). Although diagnosis is essentially clinical,in recent years many advances have been made in theknowledge of the molecular and genetic bases of hereditarydiseases, which may be of considerable help in establishingthe diagnosis and improving treatment.
Key words:
Periodic fever
Familial Mediterranean fever
Hyper-IgD syndrome
TNF receptor
Muckle-Wells syndrome
PFAPA syndrome
CINCA syndrome
Cyclic neutropenia
Blau syndrome
Castleman's disease
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