Diretrizes de conduta e tratamento de síndromes febris periódicas associadas à criopirina (criopirinopatias – CAPS)

Abstract

1. The diagnosis of CAPS is based on clinical history and clinical manifestations, and later confirmed by genetic study. CAPS may manifest itself in three phenotypes: FCAS (mild form), MWS (intermediate form) and CINCA (severe form). Neurological, ophthalmic, otorhinolaryngological and radiological assessments may be highly valuable in distinguishing between syndromes; 2. The genetic diagnosis with NLRP3 gene analysis must be conducted in suspected cases of CAPS, i.e., individuals presenting before 20 years of age, recurrent episodes of inflammation expressed by a mild fever and urticaria; 3. Laboratory abnormalities include leukocytosis and elevated serum levels of inflammatory proteins; and 4. Targeted therapies directed against interleukin-1 lead to rapid remission of symptoms in most patients. However, there are important limitations on the long-term safety. None of the three anti-IL-1β inhibitors prevents progression of bone lesions.

State of care for patients with systemic autoinflammatory diseases – Results of a tertiary care survey

“…In general, the data from our study on treatment decisions demonstrate the common use of off-label therapies in SAIDs and emphasize the need for management guidelines. Lately, several initiatives started to implement practical management guidelines for specific SAIDs such as CAPS, FMF, HIDS, TRAPS and SJIA/AOSD,34, 39, 40, 41, 42, 43, 44, 45 and further efforts to optimize existing guidelines are currently ongoing. Nonetheless, the rarity of the diseases and limited data from large scale, randomized controlled trials remain major challenges within this task 34, 46…”