Cryopyrin-Associated Periodic Fever Syndrome and the Nervous System

AbstractPurpose of reviewThe purpose of this review is to highlight the molecular and clinical characteristics of the cryopyrin-associated periodic fever syndrome (CAPS) and its management. CAPS is an autosomal dominantly inherited autoinflammatory disorder associated with mutations in theNLRP3 gene, which ultimately lead to excessive production of interleukin-1 β (IL-1β) and systemic inflammation. Typical systemic features include fever, urticarial rash and arthralgia, and ultimately amyloidosis. There are also multiple neurological manifestations including, but not restricted to, headache, sensorineural hearing loss, aseptic meningitis, myalgia and opti c nerve involvement.Recent findingsSince the recognition of CAPS as a single disease entity and discovery of the underlying causative gene, there has been a major breakthrough in terms of its treatment by pharmacological IL-1 β inhibition. Highly targeted therapies against IL-1 have been shown to be remarkably effective in the treatment of CAPS and make early diagnosis of this condition crucial. It is hoped that starting pharmacological intervention in a timely manner will prove neuroprotective. There are three drugs li censed for treatment of CAPS; canakinumab, anakinra and rilonacept. The former two are widely used: canakinumab is a fully humanised anti-IL-1β monoclonal antibody administered as a subcutaneous injection once every 8 weeks starting at a dose of 150 mg in patients weighing more than 40 kg. Anaki nra is...
Source: Current Treatment Options in Neurology - Category: Neurology Source Type: research