Cryopyrin-assoziiertes periodisches Syndrom

摘要: The cryopyrin-associated periodic syndrome is a very rare disease. It estimated that there are 1-2 cases out of 1 million inhabitants in the USA and 1/360,000 France. However, many patients diagnosed late or not at all. Therefore real prevalence likely to be higher. CAPS encompasses three entities familial cold autoinflammatory (FCAS), Muckle-Wells neonatal-onset multisystem inflammatory disease (NOMID)/chronic infantile neurologic cutaneous articular (CINCA) syndrome. They have common causative mutation NLRP3-gene. altered gene product cryopyrin leads activation inflammasome which turn responsible for excessive production IL-1β. IL-1β causes manifestations CAPS. These appear as systemic inflammation including fever, headache fatigue, rash, eye disease, progressive sensorineural hearing loss, musculoskeletal CNS symptoms (NOMID/CINCA only). With advent IL-1 inhibitors anakinra, rilonacept canakinumab first time safe effective therapeutic options available this devastating To prevent severe possible life-threatening sequelae, early correct diagnosis immediate initiation therapy mandatory.