59 – Systemic autoinflammatory syndromes
2013
Abstract Autoinflammatory diseases are characterized by recurrent episodes of inflammation, accompanied by a wide range of inflammatory symptoms, including fever, abdominal pain, skin rash, arthralgias, and myalgias. There can be frank signs of peritonitis, pericarditis, or arthritis. Many autoinflammatory diseases have a genetic background, and major progress has been made in identifying specific disease-inducing mutations. The common pathophysiological feature of autoinflammatory syndromes is the increased production of interleukin-1 (IL-1), making drugs targeting this cytokine the treatment of choice. The exception to this is familial Mediterranean fever, where anti–IL-1-therapy is only indicated when treatment with colchicine is ineffective. Adequate control of inflammation is necessary to prevent amyloid A (AA) amyloidosis.
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