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Mechanisms, Biomarkers and Targets for Adult-Onset Still's Disease

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Mechanisms, Biomarkers and Targets for Adult-Onset Still's Disease REVIEWS Mechanisms, biomarkers and targets for adult-onset Still’s disease Eugen Feist1*, Stéphane Mitrovic2,3* and Bruno Fautrel2,4 Abstract | Adult-onset Still’s disease (AoSD) is a rare but clinically well-known, polygenic, systemic autoinflammatory disease. Owing to its sporadic appearance in all adult age groups with potentially severe inflammatory onset accompanied by a broad spectrum of disease manifestation and complications, AoSD is an unsolved challenge for clinicians with limited therapeutic options. This Review provides a comprehensive insight into the complex and heterogeneous nature of AoSD, describing biomarkers of the disease and its progression and the cytokine signalling pathways that contribute to disease. The efficacy and safety of biologic therapeutic options are also discussed, and guidance for treatment decisions is provided. Improving the approach to AoSD in the future will require much closer cooperation between paediatric and adult rheumatologists to establish common diagnostic strategies, treatment targets and goals. Adult-onset Still’s disease (AoSD) was first described macrophages and neutrophils in response to a danger in the early 1970s, by Eric Bywaters1, as an inflam- signal leading to tissue damage. These categories repre- matory condition in young adults. The disease was sent a continuum, which enabled a new classification of similar to childhood-onset Still’s disease (today called immune-mediated inflammatory disorders to be refined systemic-onset juvenile idiopathic arthritis (SoJIA)), in subsequent years3,5. which was described a century ago by Sir John Still2. The diagnosis of autoimmune diseases is often sup- Although the exact pathogenic mechanisms of the ported by the presence of autoantibodies or autoantigen- disease are unknown, substantial advances have specific T cells and B cells. By contrast, no specific been made to confirm the homology between AoSD biomarker exists for systemic autoinflammatory disorders. and SoJIA; and AoSD has become the archetype of The definition mainly relies on similarities with mono- non-familial, or sporadic, systemic autoinflammatory genic, hereditary periodic fever syndromes, which were disorders3–5. at the origin of the concept. Autoinflammatory diseases This article addresses the immune background of have several key features, including intense inflamma- AoSD including new biomarkers as well as treatment tion with periodic fever, tissue inflammation depend- 1Department of Rheumatology and Clinical options. Furthermore, in accordance with the respective ing on the disease, increased leukocyte and neutrophil Immunology, Charité- clinical manifestations, we give guidance for appropriate counts, elevated erythrocyte sedimentation rate (ESR) Universitätsmedizin, Berlin, treatment decisions. and C-reactive protein (CRP) level, a pathogenic func- Germany. tion of the inflammasome and a therapeutic response 2Department of Autoimmunity versus autoinflammation to IL-1 blockade7–9. Aside from monogenic familial Rheumatology, AP-HP, In the mid-2000s the hypotheses of two main patho- syndromes, Crohn’s disease was the first classified Pitié-Salpêtrière Hospital, 10,11 AP-HP, Paris, France. genic mechanisms underlying immune-mediated non-familial polygenic autoinflammatory disorder . 3Department of Internal inflammation against the self were formulated, and A few years later, Still’s disease (SoJIA and AoSD) was Medicine, Institut Mutualiste a new classification for immunological diseases was described as another non-familial autoinflammatory Montsouris, Paris, France. proposed that distinguished autoimmunity from auto- disorder, becoming one of the most characteristic 4Sorbonne Université, GRC inflammation3,6. The term autoimmunity was used to polygenic systemic autoinflammatory disorders4,12. 08, Pierre Louis Institute of refer to adaptive immunity and was defined as aberrant Epidemiology and Public dendritic cell, B cell and T cell responses in primary and Pathogenesis Health, Paris, France. secondary lymphoid organs leading to a break in tol- Our understanding of the mechanisms underlying *e-mail: eugen.feist@ charite.de; stephane. erance and development of immune reactivity towards AoSD pathogenesis is mostly hypothetical, but studies of [email protected] native antigens (with autoantibodies in most cases). patients with SoJIA and a generally growing understand- https://doi.org/10.1038/ The term autoinflammation was used to refer to innate ing of systemic autoinflammatory disorders suggest the s41584-018-0081-x immunity and was defined as dysregulated activation of involvement of a pro-inflammatory cascade4,8,13,14 (FIG. 1). NATURE REVIEWS | RHEUMATOLOGY VOLUME 14 | OCTOBER 2018 | 603 REVIEWS Key points jejuni, Chlamydia trachomatis, Chlamydia pneumoniae, Mycoplasma pneumoniae or Borrelia burgdorferi)4,13,14. • Similar to systemic-onset juvenile idiopathic arthritis, adult-onset Still’s disease In addition, patients often experience odynophagia (AoSD) is a rare systemic autoinflammatory disease with potentially severe (sore throat) or pharyngitis just before the start of the inflammatory onset accompanied by a broad spectrum of disease manifestation and disease or before a relapse25,26, which could correspond complications. to the infectious danger signal that triggers TLRs and • AoSD should be considered in patients with persistent fever, and the diagnosis is inflammation. based on the combination of clinical and laboratory findings as well as the exclusion of other inflammatory conditions. A role for genetics • Central to the pathogenesis of AoSD is the intense activation of innate immune cells In contrast to monogenic, hereditary, periodic fever syn- and overproduction of several pro-inflammatory cytokines including IL-1, IL-6 and IL-18. dromes, the underlying genetic background of AoSD is mostly unknown. The disease is present in different • Two IL-1 antagonists have been approved for treatment of AoSD, and growing 4,5,13,14,27 evidence suggests that other biologic agents are therapeutic options, such as geographical regions and different ethnic groups . anti-IL-6 and anti-IL-18 therapeutics. Association studies have suggested a predisposing • As a reliable prediction of response and outcome is not possible, therapeutic genetic background; however, no functional analysis has 4,14,28 decisions have to be made on the basis of clinical, biological or imaging confirmed this hypothesis . Two major findings have characteristics of disease. been reported in patients with SoJIA. First, a homoal- • A close cooperation between paediatric and adult rheumatologists is required to lelic missense mutation in LACC1 (which encodes the establish common diagnostic strategies, treatment targets and goals. enzyme laccase domain-containing protein 1, a multi- copper oxidoreductase) has been identified in 13 patients with SoJIA from 5 consanguineous families in Saudi A cytokine storm Arabia29. This oxidoreductase promotes fatty-acid oxida- The starting point of the pro-inflammatory cascade tion, with concomitant inflammasome activation, mito- is probably specific danger signals such as pathogen- chondrial and NADPH-oxidase-dependent production associated molecular patterns (PAMPs) or damage- of reactive oxygen species and bactericidal activity associated molecular patterns (DAMPs). These danger of macrophages30. Second, a large association study of signals are transmitted to macrophages and neutro- 982 children with SoJIA and 8,010 healthy individu- phils via specific Toll-like receptors (TLRs) that activate als identified a strong association between SoJIA and specific inflammasomes, probably NACHT, LRR and different HLA-DRB1*11 haplotypes, which all encode PYD domains-containing protein 3 (NLRP3), lead- glutamate 58 (REF.31). This finding is unexpected, as it ing to caspase activation and overproduction of active would implicate the involvement of adaptive immu- IL-1β9,14–16. This step seems to be central to the pathogen- nity in the pathogenesis of Still’s disease. However, it is esis of AoSD and leads to intense innate immune cell acti- unclear whether the same risk alleles are also associated vation and overproduction of several pro-inflammatory with AoSD32. Finally, the substantial advances made in cytokines including IL-6, IL-8, IL-17, IL-18 and TNF9,14–16 exploring the human genome will facilitate the identifi- (FIG. 1). Several factors actively contribute to an amplified cation of potential mutations in genes involved in auto- inflammatory response, which is often referred to as the inflammatory pathways, including de novo germinal cytokine ‘burst’ or ‘storm’ (REFS4,16). In addition to IL-1 mutations or somatic mutations occurring during fetus itself conferring retrograde activation of macrophages development or after birth33,34. and neutrophils, different alarmins such as the S100 proteins (with S100A12 seeming to be more specific to Diagnostic and clinical manifestations SoJIA) and advanced glycation end products (AGEs) are Prevalence and incidence involved in these processes14,16–20. Aside from amplifica- AoSD satisfies the definition of an orphan disease tion mechanisms, deficiency or failure in regulatory or because its prevalence has been estimated at between 1 anti-inflammatory mechanisms might be involved in affected person per million in Europe35 and 10 affected the pathogenesis of autoinflammatory diseases, includ- people per million in Japan36. In the Japanese study, the ing deficiency in regulatory T cells or natural killer cells, incidence was
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