Research

14 pages, 553 KiB

Open AccessArticle

Detection and Prediction of Macrophage Activation Syndrome in Still’s Disease

by Clément Javaux, Thomas El-Jammal, Pierre-Antoine Neau, Nicolas Fournier, Mathieu Gerfaud-Valentin, Laurent Perard, Marine Fouillet-Desjonqueres, Julie Le Scanff, Emmanuelle Vignot, Stéphane Durupt, Arnaud Hot, Alexandre Belot, Isabelle Durieu, Thomas Henry, Pascal Sève and Yvan Jamilloux

J. Clin. Med. 2022, 11(1), 206; https://doi.org/10.3390/jcm11010206 - 31 Dec 2021

Cited by 13 | Viewed by 1933

Abstract

Distinguishing between macrophage activation syndrome (MAS) and a simple flare of Still’s disease (SD) may be challenging. We sought to clarify the clinical features and outcome of MAS in SD and to explore predictive factors of MAS development. Demographic and clinical data, treatments, [...] Read more.

Distinguishing between macrophage activation syndrome (MAS) and a simple flare of Still’s disease (SD) may be challenging. We sought to clarify the clinical features and outcome of MAS in SD and to explore predictive factors of MAS development. Demographic and clinical data, treatments, and outcomes were recorded in a cohort of 206 SD patients. SD patients with and without MAS were compared. To explore predictive factors for the development of MAS, patients were compared at the time of SD diagnosis. Twenty (9.7%) patients experienced MAS, which was inaugural in 12 cases. Patients with MAS were more likely to have hepatomegaly (OR, 3.71; 95% CI, 1.14–11.2; p = 0.03) and neurological symptoms (OR, 4.43; 95% CI, 1.08–15.3; p = 0.04) than patients without MAS. Cytopenias, abnormal liver tests, and coagulation disorders were significantly more frequent in patients with MAS; lactate dehydrogenase and serum ferritin levels were significantly higher. An optimized threshold of 3500 μg/L for serum ferritin yielded a sensitivity (Se) of 85% and a negative predictive value (NPV) of 97% for identifying patients with/without MAS. Survival analysis showed that a high ferritin level at the time of SD diagnosis was predictive of MAS development (p < 0.001). Specific factors, including neurological symptoms, cytopenias, elevated LDH, and coagulopathy, may contribute to the early detection of MAS. Extreme hyperferritinemia at the onset of SD is a prognostic factor for the development of MAS. Full article

(This article belongs to the Special Issue Advances in Adult-Onset Still’s Disease and Systemic Juvenile Idiopathic Arthritis)

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13 pages, 910 KiB

Open AccessArticle

USAID Associated with Myeloid Neoplasm and VEXAS Syndrome: Two Differential Diagnoses of Suspected Adult Onset Still’s Disease in Elderly Patients

by Marion Delplanque, Achille Aouba, Pierre Hirsch, Pierre Fenaux, Julie Graveleau, Florent Malard, Damien Roos-Weil, Nabil Belfeki, Louis Drevon, Artem Oganesyan, Matthieu Groh, Matthieu Mahévas, Jerome Razanamahery, Gwenola Maigne, Matthieu Décamp, Sébastien Miranda, Thomas Quemeneur, Julien Rossignol, Laurent Sailler, Marie Sébert, Louis Terriou, Anna Sevoyan, Yervand Hakobyan, Sophie Georgin-Lavialle and Arsène Mekinian Show full author list Hide full author list

J. Clin. Med. 2021, 10(23), 5586; https://doi.org/10.3390/jcm10235586 - 27 Nov 2021

Cited by 21 | Viewed by 2612

Abstract

Background: Patients with solid cancers and hematopoietic malignancy can experience systemic symptoms compatible with adult-onset Still’s disease (AOSD). The newly described VEXAS, associated with somatic UBA1 mutations, exhibits an overlap of clinical and/or biological pictures with auto inflammatory signs and myelodysplastic syndrome (MDS). [...] Read more.

Background: Patients with solid cancers and hematopoietic malignancy can experience systemic symptoms compatible with adult-onset Still’s disease (AOSD). The newly described VEXAS, associated with somatic UBA1 mutations, exhibits an overlap of clinical and/or biological pictures with auto inflammatory signs and myelodysplastic syndrome (MDS). Objectives: To describe a cohort of patients with signs of undifferentiated systemic autoinflammatory disorder (USAID) concordant with AOSD and MDS/chronic myelomonocytic leukemia (CMML) and the prevalence of VEXAS proposed management and outcome. Methods: A French multicenter retrospective study from the MINHEMON study group also used for other published works with the support of multidisciplinary and complementary networks of physicians and a control group of 104 MDS/CMML. Results: Twenty-six patients were included with a median age at first signs of USAID of 70.5 years with male predominance (4:1). Five patients met the criteria for confirmed AOSD. The most frequent subtypes were MDS with a blast excess (31%) and MDS with multilineage dysplasia (18%). Seven patients presented with acute myeloid leukemia and twelve died during a median follow-up of 2.5 years. Six out of 18 tested patients displayed a somatic UBA1 mutation concordant with VEXAS, including one woman. High-dose corticosteroids led to a response in 13/16 cases and targeted biological therapy alone or in association in 10/12 patients (anakinra, tocilizumab, and infliximab). Azacytidine resulted in complete or partial response in systemic symptoms for 10/12 (83%) patients including 3 VEXAS. Conclusions: Systemic form of VEXAS syndrome can mimic AOSD. The suspicion of USAID or AOSD in older males with atypia should prompt an evaluation of underlying MDS and assessment of somatic UBA1 mutation. Full article

(This article belongs to the Special Issue Advances in Adult-Onset Still’s Disease and Systemic Juvenile Idiopathic Arthritis)

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11 pages, 3500 KiB

Open AccessArticle

Still’s Disease Mortality Trends in France, 1979–2016: A Multiple-Cause-of-Death Study

by Caroline Borciuch, Mathieu Fauvernier, Mathieu Gerfaud-Valentin, Pascal Sève and Yvan Jamilloux

J. Clin. Med. 2021, 10(19), 4544; https://doi.org/10.3390/jcm10194544 - 30 Sep 2021

Cited by 5 | Viewed by 1725

Abstract

Still’s disease (SD) is often considered a benign disease, with low mortality rates. However, few studies have investigated SD mortality and its causes and most of these have been single-center cohort studies. We sought to examine mortality rates and causes of death among [...] Read more.

Still’s disease (SD) is often considered a benign disease, with low mortality rates. However, few studies have investigated SD mortality and its causes and most of these have been single-center cohort studies. We sought to examine mortality rates and causes of death among French decedents with SD. We performed a multiple-cause-of-death analysis on data collected between 1979 and 2016 by the French Epidemiological Center for the Medical Causes of Death. SD-related mortality rates were calculated and compared with the general population (observed/expected ratios, O/E). A total of 289 death certificates mentioned SD as the underlying cause of death (UCD) (n = 154) or as a non-underlying causes of death (NUCD) (n = 135). Over the study period, the mean age at death was 55.3 years (vs. 75.5 years in the general population), with differences depending on the period analyzed. The age-standardized mortality rate was 0.13/million person-years and was not different between men and women. When SD was the UCD, the most frequent associated causes were cardiovascular diseases (n = 29, 18.8%), infections (n = 25, 16.2%), and blood disorders (n = 11, 7.1%), including six cases (54%) with macrophage activation syndrome. As compared to the general population, SD decedents aged <45 years were more likely to die from a cardiovascular event (O/E = 3.41, p < 0.01); decedents at all ages were more likely to die from infection (O/E = 7.96–13.02, p < 0.001). Full article

(This article belongs to the Special Issue Advances in Adult-Onset Still’s Disease and Systemic Juvenile Idiopathic Arthritis)

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9 pages, 1437 KiB

Open AccessArticle

NLRC4 GOF Mutations, a Challenging Diagnosis from Neonatal Age to Adulthood

by Juliette Bardet, Noémie Laverdure, Mathieu Fusaro, Capucine Picard, Lorna Garnier, Sébastien Viel, Sophie Collardeau-Frachon, Jean-Marie De Guillebon, Isabelle Durieu, Clémence Casari-Thery, Guillaume Mortamet, Audrey Laurent and Alexandre Belot

J. Clin. Med. 2021, 10(19), 4369; https://doi.org/10.3390/jcm10194369 - 24 Sep 2021

Cited by 6 | Viewed by 2687

Abstract

The NLRC4 inflammasome is part of the human immune innate system. Its activation leads to the cleavage of pro-inflammatory cytokines IL-1β and IL-18, promoting inflammation. NLRC4 gain-of-function (GOF) mutations have been associated with early-onset recurrent fever, recurrent macrophagic activation syndrome and enterocolitis. Herein, [...] Read more.

The NLRC4 inflammasome is part of the human immune innate system. Its activation leads to the cleavage of pro-inflammatory cytokines IL-1β and IL-18, promoting inflammation. NLRC4 gain-of-function (GOF) mutations have been associated with early-onset recurrent fever, recurrent macrophagic activation syndrome and enterocolitis. Herein, we describe two new patients with NLRC4 mutations. The first case presented with recurrent fever and vasoplegic syndrome, gut symptoms and urticarial rashes initially misdiagnosed as a severe protein-induced enterocolitis syndrome. The second case had recurrent macrophage activation syndrome (MAS) and shock, suggesting severe infection. We identified two NLRC4 mutations, on exon 4, within the nucleotide-binding protein domain (NBD). After a systematic review of NLRC4 GOF mutations, we highlight the wide spectrum of this disease with a limited genotype–phenotype correlation. Vasoplegic shock was only reported in patients with mutation in the NBD. Diagnosing this new entity combined with gastrointestinal symptoms and vasoplegic shocks is challenging. It mimics severe allergic reaction or sepsis. The plasma IL-18 level and genetic screening are instrumental to make a final diagnosis. Full article

(This article belongs to the Special Issue Advances in Adult-Onset Still’s Disease and Systemic Juvenile Idiopathic Arthritis)

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13 pages, 674 KiB

Open AccessArticle

Characteristics and Clinical Value of 18F-FDG PET/CT in the Management of Adult-Onset Still’s Disease: 35 Cases

by Josselin Brisset, Yvan Jamilloux, Stephanie Dumonteil, Guillaume Lades, Martin Killian, Mathieu Gerfaud-Valentin, Anne Lemaire, Tomasz Chroboczek, Eric Liozon, Guillaume Gondran, Pascal Sève, Jacques Monteil, Anne-Laure Fauchais and Kim Heang Ly

J. Clin. Med. 2021, 10(11), 2489; https://doi.org/10.3390/jcm10112489 - 04 Jun 2021

Cited by 3 | Viewed by 2672

Abstract

While the diagnosis of adult-onset Still’s disease (AOSD) involves the exclusion of differential diagnoses, the characteristics and value of 18F-Fluorodeoxyglucose (18F-FDG) Positron Emission Tomography coupled with CT (PET/CT) in the management of AOSD remain poorly known. Our retrospective study included patients from four [...] Read more.

While the diagnosis of adult-onset Still’s disease (AOSD) involves the exclusion of differential diagnoses, the characteristics and value of 18F-Fluorodeoxyglucose (18F-FDG) Positron Emission Tomography coupled with CT (PET/CT) in the management of AOSD remain poorly known. Our retrospective study included patients from four centers, fulfilling Yamaguchi or Fautrel criteria, who underwent a PET/CT during an active AOSD. Thirty-five patients were included. At the time of PET/CT, the Yamaguchi criteria were met in 23 of 29 evaluable cases. PET/CT showed bone marrow (74.3%), lymph node (74.3%), and splenic (48.6%) FDG uptake. Despite arthralgia or arthritis in most patients, joints were rarely the sites of 18F-FDG accumulation. The spatial distribution of 18F-FDG uptake was nonspecific, and its intensity could be similar to malignant disease. Lymph node or bone marrow biopsy was performed after PET/CT in 20 patients (57.1%). The intensity of bone marrow; splenic and lymph node hypermetabolism appeared to be correlated with disease activity. Abnormal PET/CT in the cervical lymph nodes and age ≥ 60 years seemed to be predictive factors for monocyclic evolution. The clinical value of PET/CT is not in direct diagnosis; but as an aid in excluding differential diagnoses by searching for their scintigraphic features and guiding biopsy. Full article

(This article belongs to the Special Issue Advances in Adult-Onset Still’s Disease and Systemic Juvenile Idiopathic Arthritis)

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10 pages, 259 KiB

Open AccessArticle

Seroprevalence of Antibodies against SARS-CoV-2 in Children with Juvenile Idiopathic Arthritis a Case-Control Study

by Violetta Opoka-Winiarska, Ewelina Grywalska, Izabela Korona-Glowniak, Katarzyna Matuska, Anna Malm and Jacek Roliński

J. Clin. Med. 2021, 10(8), 1771; https://doi.org/10.3390/jcm10081771 - 19 Apr 2021

Cited by 3 | Viewed by 2260

Abstract

There is limited data on the effect of the novel coronavirus disease (COVID-19) caused by severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2) on pediatric rheumatology. We examined the prevalence of antibodies against SARS-CoV-2 in children with juvenile idiopathic arthritis (JIA) and a negative history of [...] Read more.

There is limited data on the effect of the novel coronavirus disease (COVID-19) caused by severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2) on pediatric rheumatology. We examined the prevalence of antibodies against SARS-CoV-2 in children with juvenile idiopathic arthritis (JIA) and a negative history of COVID-19 and the correlation of the presence of these antibodies with disease activity measured by juvenile arthritis disease activity score (JADAS). In total, 62 patients diagnosed with JIA, under treatment with various antirheumatic drugs, and 32 healthy children (control group) were included. Serum samples were analyzed for inflammatory markers and antibodies and their state evaluated with the juvenile arthritis disease activity score (JADAS). JIA patients do not have a higher seroprevalence of anti-SARS-CoV-2 antibodies than healthy subjects. We found anti-SARS-CoV-2 antibodies in JIA patients who did not have a history of COVID-19. The study showed no unequivocal correlation between the presence of SARS-CoV-2 antibodies and JIA activity; therefore, this relationship requires further observation. We also identified a possible link between patients’ humoral immune response and disease-modifying antirheumatic treatment, which will be confirmed in follow-up studies. Full article

(This article belongs to the Special Issue Advances in Adult-Onset Still’s Disease and Systemic Juvenile Idiopathic Arthritis)

13 pages, 579 KiB

Open AccessArticle

Different Features of Interleukin-37 and Interleukin-18 as Disease Activity Markers of Adult-Onset Still’s Disease

by Seoung Wan Nam, SuMan Kang, Jun Hyeok Lee and Dae Hyun Yoo

J. Clin. Med. 2021, 10(5), 910; https://doi.org/10.3390/jcm10050910 - 26 Feb 2021

Cited by 13 | Viewed by 1761

Abstract

The aim of this study was to evaluate the usefulness of serum interleukin (IL)-37 and IL-18 as disease activity markers of adult-onset Still’s disease (AOSD) and to compare their related clinical features. Forty-five patients with a set of high and subsequent low disease [...] Read more.

The aim of this study was to evaluate the usefulness of serum interleukin (IL)-37 and IL-18 as disease activity markers of adult-onset Still’s disease (AOSD) and to compare their related clinical features. Forty-five patients with a set of high and subsequent low disease activity status of AOSD were enrolled. Modified Pouchot (mPouchot) score and serologic disease activity markers including levels of IL-37 and IL-18 were compared between high and low disease activity status. The relationships between disease activity parameters and differences in levels of cytokines according to each disease manifestation were evaluated in high disease activity status. mPouchot score and all disease activity markers including IL-37 and IL-18 significantly declined after treatment. Though both cytokines positively correlated with mPouchot score, the two did not correlate with each other in high disease activity status. IL-18 positively correlated with ferritin, AST, and LDH while IL-37 correlated better with CRP. The expression level of IL-37 was related to leukocytosis while IL-18 was related to pleuritis, pneumonitis, abnormal LFT, and hyperferritinemia. In addition, patients in the IL-18 dominant group presented with higher LDH levels and required a higher mean corticosteroid dose. In conclusion, IL-37 and IL-18 are disease activity markers reflecting different aspects of AOSD that can complement each other. Full article

(This article belongs to the Special Issue Advances in Adult-Onset Still’s Disease and Systemic Juvenile Idiopathic Arthritis)

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Review

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10 pages, 400 KiB

Open AccessReview

Strategy and Challenges of Paraclinical Examinations in Adult-Onset Still’s Disease

by Nicolas Poursac, Itsaso Odriozola and Marie-Elise Truchetet

J. Clin. Med. 2022, 11(8), 2232; https://doi.org/10.3390/jcm11082232 - 16 Apr 2022

Cited by 3 | Viewed by 2429

Abstract

Adult-onset Still’s disease is a complex autoinflammatory disease with a multifactorial etiology. Its presentation is less stereotypical than that of a monogenic autoinflammatory disease and is actually relatively common with few specific signs. To avoid under- or over-prescription of complementary examinations, it is [...] Read more.

Adult-onset Still’s disease is a complex autoinflammatory disease with a multifactorial etiology. Its presentation is less stereotypical than that of a monogenic autoinflammatory disease and is actually relatively common with few specific signs. To avoid under- or over-prescription of complementary examinations, it is useful to advance in a structured manner, taking into consideration the actual added value of each supplemental examination. In this review, we detail the different complementary tests used in adult Still’s disease. We consider them from three different angles: positive diagnostic approach, the differential diagnosis, and the screening for complications of the disease. After discussing the various tests at our disposal, we look at the classical diagnostic strategy in order to propose a structured algorithm that can be used in clinical practice. We conclude with the prospects of new complementary examinations, which could in the future modify the management of patients. Full article

(This article belongs to the Special Issue Advances in Adult-Onset Still’s Disease and Systemic Juvenile Idiopathic Arthritis)

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8 pages, 823 KiB

Open AccessReview

The Role of Interleukin 18/Interleukin 18-Binding Protein in Adult-Onset Still’s Disease and Systemic Juvenile Idiopathic Arthritis

by Charlotte Girard-Guyonvarc’h, Mathilde Harel and Cem Gabay

J. Clin. Med. 2022, 11(2), 430; https://doi.org/10.3390/jcm11020430 - 15 Jan 2022

Cited by 12 | Viewed by 2822

Abstract

Interleukin 18 (IL-18) is a pro-inflammatory cytokine of the IL-1 family, whose activity is tightly controlled at the level of production, as well as signalization. Notably, it is buffered by its natural inhibitor, IL-18 binding protein (IL-18BP), which is massively present in circulation [...] Read more.

Interleukin 18 (IL-18) is a pro-inflammatory cytokine of the IL-1 family, whose activity is tightly controlled at the level of production, as well as signalization. Notably, it is buffered by its natural inhibitor, IL-18 binding protein (IL-18BP), which is massively present in circulation in normal and in most pathological conditions, thus preventing harmful pro-inflammatory systemic effects of IL-18. IL-18 has long been considered to be involved in the pathophysiology of various inflammatory diseases. However, a first clinical trial using recombinant IL-18BP for the treatment of rheumatoid arthritis and psoriasis gave disappointing results. Direct measurements of unbound, bioactive, free form of circulating IL-18 demonstrated that IL-18 was more specifically involved in adult-onset Still’s disease (AOSD) and systemic juvenile idiopathic arthritis (sJIA) but also in their most severe complication, macrophage activation syndrome (MAS). More importantly, administration of recombinant IL-18BP to patients with AOSD, and sJIA with MAS, showed promising results. This review summarizes available data regarding IL-18 and IL-18BP in AOSD and sJIA in mouse models and humans and shows the importance of IL-18/IL-18BP imbalance in these conditions, leading to the conclusion that IL-18, particularly free IL-18, may be a useful biomarker in these diseases and an interesting therapeutic target. Full article

(This article belongs to the Special Issue Advances in Adult-Onset Still’s Disease and Systemic Juvenile Idiopathic Arthritis)

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11 pages, 9425 KiB

Open AccessReview

Serum Calprotectin a Potential Biomarker in Juvenile Idiopathic Arthritis: A Meta-Analysis

by Emma Altobelli, Paolo Matteo Angeletti, Reimondo Petrocelli, Giuseppe Lapergola, Giovanni Farello, Giovanni Cannataro and Luciana Breda

J. Clin. Med. 2021, 10(21), 4861; https://doi.org/10.3390/jcm10214861 - 22 Oct 2021

Cited by 6 | Viewed by 1820

Abstract

Juvenile idiopathic arthritis (JIA) is the most common inflammatory chronic disease affecting children and adolescents. Today, there are no specific biomarkers of inflammation. Therefore, it is important to identify new markers as predictors of disease activity. Recently, some researchers have directed their interest [...] Read more.

Juvenile idiopathic arthritis (JIA) is the most common inflammatory chronic disease affecting children and adolescents. Today, there are no specific biomarkers of inflammation. Therefore, it is important to identify new markers as predictors of disease activity. Recently, some researchers have directed their interest toward a protein, calprotectin (CLP), as a potential biomarker. The primary objective of our systematic review and meta-analysis was to analyze the possible role of CLP in JIA. Method: A literature search was conducted using PubMed, EMBASE, Scopus, Science Direct on 10 August 2021. The selection of studies was made using the PRISMA 2020 guidelines. Cohen’s d with 95% CI and p-value were used as a measure of effect size. The random effects model was used to account for different sources of variation among studies. Heterogeneity was assessed using Q statistics and I². The publication bias was analyzed and represented by a funnel plot, and funnel plot symmetry was assessed with Egger’s test. Results: Our results at follow-up showed a statistically significant difference between patients with active disease compared to patients with inactive disease: 0.39 (0.16; 0.62), p = 0.001; without statistical heterogeneity. Another important aspect that emerged were the differences between the systemic disease form and any form of inactive disease showing a different concentration of calprotectin: 0.74 (0.40; 1.08), p < 0.001; without statistical heterogeneity. On the other hand, meta-regression analyses performed on gender, age, duration of disease, percentage of patients with ANA+ or RF+, medium value of ESR or CRP were not statistically significant. A statistically significant difference in serum calprotectin concentration between patients with JIA and healthy controls were observed. In fact, it presented lower values in the control group. Conclusions: The use of serum CLP could represent, in the future, a useful tool in JIA in order to stratify disease activity more accurately and may aid a more tailored approach to drug of choice in children with JIA. Further studies are needed to evaluate CLP as a predictor of flare in combination with other potential biomarkers of subclinical disease activity. Full article

(This article belongs to the Special Issue Advances in Adult-Onset Still’s Disease and Systemic Juvenile Idiopathic Arthritis)

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9 pages, 953 KiB

Open AccessReview

Still’s Disease in the Constellation of Hyperinflammatory Syndromes: A Link with Kawasaki Disease?

by Perrine Dusser and Isabelle Koné-Paut

J. Clin. Med. 2021, 10(15), 3244; https://doi.org/10.3390/jcm10153244 - 23 Jul 2021

Cited by 3 | Viewed by 2480

Abstract

Still’s disease and Kawasaki disease (KD) today belong to the group of cytokine storm syndromes, a pathophysiological set related to excessive activation of the innate immune response. We present here a personal vision of what can link these two diseases, taking up their [...] Read more.

Still’s disease and Kawasaki disease (KD) today belong to the group of cytokine storm syndromes, a pathophysiological set related to excessive activation of the innate immune response. We present here a personal vision of what can link these two diseases, taking up their concepts at their beginning. By their many clinical and physiopathological similarities, we conclude that they constitute a common spectrum whose fate is modified by subtle differences in terms of adaptive response that could, in part, be driven by genetic factors. Full article

(This article belongs to the Special Issue Advances in Adult-Onset Still’s Disease and Systemic Juvenile Idiopathic Arthritis)

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11 pages, 791 KiB

Open AccessReview

Clinical Phenotypes of Adult-Onset Still’s Disease: New Insights from Pathophysiology and Literature Findings

by Stéphane Mitrovic and Bruno Fautrel

J. Clin. Med. 2021, 10(12), 2633; https://doi.org/10.3390/jcm10122633 - 15 Jun 2021

Cited by 28 | Viewed by 4355

Abstract

Adult-onset Still’s disease (AOSD) is a non-familial, polygenic systemic autoinflammatory disorder. It is traditionally characterized by four cardinal manifestations—spiking fever, an evanescent salmon-pink maculopapular rash, arthralgia or arthritis and a white-blood-cell count (WBC) ≥ 10,000/mm³, mainly neutrophilic polymorphonuclear cells (PMNs)—but many [...] Read more.

Adult-onset Still’s disease (AOSD) is a non-familial, polygenic systemic autoinflammatory disorder. It is traditionally characterized by four cardinal manifestations—spiking fever, an evanescent salmon-pink maculopapular rash, arthralgia or arthritis and a white-blood-cell count (WBC) ≥ 10,000/mm³, mainly neutrophilic polymorphonuclear cells (PMNs)—but many other manifestations and complications can be associated, making clinical expression very heterogeneous and diagnosis sometimes difficult. The AOSD course can be diverse and is currently impossible to predict. Several clinical phenotypes have been described, either on the basis of the evolution of symptoms over time (monocyclic, polycyclic and chronic evolution) or according to dominant clinical evolution (systemic and arthritis subtypes). However, these patterns are mainly based on case series and not on robust epidemiological studies. Furthermore, they have mainly been established a long time ago, before the era of the biological treatments. Thus, based on our personal experience and on recent advances in the understanding of disease pathogenesis, it appears interesting to reshuffle AOSD phenotypes, emphasizing the continuum between AOSD profiles and other systemic autoinflammatory disorders, eventually proposing a research agenda. Full article

(This article belongs to the Special Issue Advances in Adult-Onset Still’s Disease and Systemic Juvenile Idiopathic Arthritis)

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Other

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9 pages, 263 KiB

Open AccessViewpoint

Systemic Juvenile Idiopathic Arthritis/Pediatric Still’s Disease, a Syndrome but Several Clinical Forms: Recent Therapeutic Approaches

by Pierre Quartier

J. Clin. Med. 2022, 11(5), 1357; https://doi.org/10.3390/jcm11051357 - 01 Mar 2022

Cited by 7 | Viewed by 3180

Abstract

Background: Systemic Juvenile Idiopathic Arthritis (SJIA)/Pediatric Still’s disease is associated with different phenotypes and outcomes from currently available treatments. Methods: A review of opinion, based on personal experience in a reference pediatric rheumatology center and key publications, to explore the most important questions [...] Read more.

Background: Systemic Juvenile Idiopathic Arthritis (SJIA)/Pediatric Still’s disease is associated with different phenotypes and outcomes from currently available treatments. Methods: A review of opinion, based on personal experience in a reference pediatric rheumatology center and key publications, to explore the most important questions regarding disease heterogeneity and treatment approaches. Results: A few situations deserve particular attention: 1/patients with recent-onset SJIA who may benefit from a treat-to-target approach with a key place for interleukin (IL)-1 inhibition; 2/SJIA patients refractory to Il-1 and IL-6 antagonists in whom several options may be discussed, including thalidomide or allogeneic hematopoietic stem cell transplantation; 3/SJIA patients with macrophage activation syndrome who may benefit from both well-used classical treatment and innovative approaches, such as anti-interferon gamma therapy or Janus Kinase (JAK) inhibitors; 4/SJIA with severe lung involvement, 5/SJIA patients who achieve complete remission on treatment, with some recent evidence that treatment may be reduced in intensity but not so easily withdrawn. Conclusions: a case-by-case discussion with expert teams is recommended in this heterogeneous, often difficult-to-treat population of patients. Full article

(This article belongs to the Special Issue Advances in Adult-Onset Still’s Disease and Systemic Juvenile Idiopathic Arthritis)

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