Diagnosis and Management of the Cryopyrin-Associated Periodic Syndromes (CAPS): What Do We Know Today?

摘要: The cryopyrin-associated periodic syndromes (CAPS) are usually caused by heterozygous NLRP3 gene variants, resulting in excessive inflammasome activation with subsequent overproduction of interleukin (IL)-1β. CAPS spectrum includes mild, moderate, and severe phenotypes. mild phenotype is called familial cold autoinflammatory syndrome (FCAS), the moderate also known as Muckle-Wells (MWS), neonatal-onset multisystem inflammatory disease (NOMID)/chronic infantile neurologic cutaneous articular (CINCA) describes phenotype. phenotypes display unspecific unique clinical signs. Dermatologic, musculoskeletal, ocular, otologic, symptoms combined chronic systemic inflammation characteristic. Nevertheless, making diagnosis challenging several patients show a heterogeneous multi-system presentation genetic variants growing. Somatic mosaicisms low-penetrance lead to atypical courses. To avoid morbidity reduce mortality, early crucial, targeted anti-IL-1 therapy should be started soon possible. Furthermore, continuous precise monitoring activity, organ damage, health-related quality life important. This review summarizes current evidence management CAPS.