Adult-onset Still%26apos;s disease

作者：Gerfaud Valentin Mathieu; Jamilloux Yvan; Iwaz Jean; Seve Pascal^*

来源：Autoimmunity Reviews, 2014, 13(7): 708-722.

DOI：10.1016/j.autrev.2014.01.058

• Adult-onset Still%26apos
• s disease
• Macrophage activation syndrome
• Hemophagocytic lymphohistiocytosis
• Hyperferritinemia
• Autoinflammatory disorder
• Anakinra

First described in 1971, adult-onset Still%26apos;s disease (AOSD) is a rare multisystemic disorder considered as a complex (multigenic) autoinflammatory syndrome. %26lt;br%26gt;A genetic background would confer susceptibility to the development of autoinflammatory reactions to environmental triggers. Macrophage and neutrophil activation is a hallmark of AOSD which can lead to a reactive hemophagocytic lymphohistiocytosis. As in the latter disease, the cytotoxic function of natural killer cells is decreased in patients with active AOSD. IL-18 and IL-1 beta, two proinflammatory cytokines processed through the inflammasome machinery, are key factors in the pathogenesis of AOSD; they cause IL-6 and Th1 cytokine secretion as well as NK cell dysregulation leading to macrophage activation. %26lt;br%26gt;The clinico-biological picture of AOSD usually includes high spiking fever with joint symptoms, evanescent skin rash, sore throat, striking neutrophilic leukocytosis, hyperferritinemia with collapsed glycosylated ferritin (%26lt;20%), and abnormal liver function tests. %26lt;br%26gt;According to the clinical presentation of the disease at diagnosis, two AOSD phenotypes may be distinguished: i) a highly symptomatic, systemic and feverish one, which would evolve into a systemic (mono- or polycyclic) pattern; ii) a more indolent one with arthritis in the foreground and poor systemic symptomatology, which would evolve into a chronic articular pattern. %26lt;br%26gt;Steroid- and methotrexate-refractory AOSD cases benefit now from recent insights into autoinflammatoiy disorders: anakinra seems to be an efficient, well tolerated, steroid-sparing treatment in systemic patterns; tocilizumab seems efficient in AOSD with active arthritis and systemic symptoms while TNF alpha-blockers could be interesting in chronic polyarticular refractory AOSD.

• 出版日期2014-7