Macrophage activation syndrome in adults with rheumatic disease

Sterba, Gary; Sterba, Yonit; Iglesias, G Antonio

doi:10.1016/j.rcreue.2016.05.001

Cited by 3 publications

(3 citation statements)

References 20 publications

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“…Of note, none of these patients was treated with TNFi before the onset of HLH, and it is unknown whether TNFi could have prevented the onset. Successful treatment of HLH with a TNF-inhibitor (etanercept) has been reported; however, other studies describe that TNFi might induce or worsen HLH [ 30 – 33 ]. Usually, TNFi have no role in HLH-treatment; instead, depending on the suspected HLH-trigger, treatment regimens contain corticosteroids or biologicals including IL1- or IL6-inhibitors [ 34 ].…”

Section: Discussionmentioning

confidence: 99%

Clinical Symptoms, Laboratory Parameters and Long-Term Follow-up in a National DADA2 Cohort

et al. 2023

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Deficiency of adenosine deaminase-2 (DADA2) is an autosomal recessive autoinflammatory disease with an extremely variable disease presentation. This paper provides a comprehensive overview of the Dutch DADA2 cohort. We performed a retrospective cohort study in 29 ADA2-deficient patients from 23 families with a median age at inclusion of 26 years. All patients had biallelic pathogenic variants in the ADA2 gene. The most common clinical findings included cutaneous involvement (79.3%), (hepato)splenomegaly (70.8%) and recurrent infections (58.6%). Stroke was observed in 41.4% of the patients. The main laboratory abnormalities were hypogammaglobulinemia and various cytopenias. Patients presented most often with a mixed phenotype involving vasculopathy, immunodeficiency and hematologic manifestations (62.1%). In this cohort, malignancies were reported in eight patients (27.6%), of whom five presented with a hematologic malignancy and two with a basal cell carcinoma. Four patients developed hemophagocytic lymphohistiocytosis (HLH) or an HLH-like episode, of whom three passed away during or shortly after the occurrence of HLH. TNF-inhibitors (TNFi) were effective in treating vasculopathy-associated symptoms and preventing stroke, but were hardly effective in the treatment of hematologic manifestations. Three patients underwent hematopoietic cell transplantation and two of them are doing well with complete resolution of DADA2-related symptoms. The overall mortality in this cohort was 17.2%. In conclusion, this cohort describes the clinical, genetic and laboratory findings of 29 Dutch DADA2 patients. We describe the occurrence of HLH as a life-threatening disease complication and report a relatively high incidence of malignancies and mortality.

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Section: Discussionmentioning

confidence: 99%

Clinical Symptoms, Laboratory Parameters and Long-Term Follow-up in a National DADA2 Cohort

et al. 2023

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“…Similar features of markedly elevated cytokine levels are often observed in patients with rheumatic diseases including systemic juvenile idiopathic arthritis, adult Still’s disease and systemic lupus erythematosus (SLE). Macrophage activation syndrome (MAS), a subset of hemophagocytic lymphohistiocytosis, is one of the major forms of cytokine storm and is usually associated with fever, pancytopenia, coagulopathy, hyperferritinemia, multi-organ injuries and high mortality in patients with rheumatic diseases [ 15 , 16 ]. These similarities between COVID-19 and rheumatic diseases may provide insights into the understanding of disease pathogenesis and potential therapeutics of COVID-19 [ 17 ].…”

Section: Clinical and Laboratory Features Of Covid-19mentioning

confidence: 99%

“…Currently, further investigations are needed to determine the exact roles of IL-6 and other cytokines in severe COVID-19 pathogenesis. Extensive studies have shown dysregulated immunological profiles in both rheumatic disease-associated MAS and severe COVID-19 patients [14][15][16]. One of the major characteristic of MAS is the activation of macrophages.…”

Section: Immunological Features Of Covid-19mentioning

confidence: 99%

The immune dysregulations in COVID-19: Implications for the management of rheumatic diseases

Xiao

Han

Zhu

et al. 2021

Modern Rheumatology

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The pandemic of COVID-19 has caused global social impact and high health risk. Clinical observations have suggested that elevated levels of inflammatory mediators are associated with disease severities in COVID-19 patients, in which the immunological profiles indicate the hyperactivation of innate immune cells and dysregulated adaptive immune responses. The increasing prevalence and disease progression of COVID-19 has emerged as a pressing challenge for the management of rheumatic patients with immune dysregulations. Here we review the immune dysregulations in COVID-19 and discuss the management of COVID-19 patients with rheumatic diseases.

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A Review on Macrophage Activation Syndrome

Sharma¹,

Shreshtha²,

Kumar³

et al. 2019

J Pure Appl Microbiol

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MAS, which is currently grouped under secondary or acquired haemophagocytic lymphohistiocytosis (sHLH), is a rare and fatal disorder that results from excess activation of T-cells and macrophages. Though the pathogenesis of MAS is poorly understood, various proinflammatory cytokines like interleukins (IL-1, IL-6), tumor necrosis factor α (tNF α), interferons are thought to play significant roles. MAS is associated with various clinical features such as non-remitting fever, bleeding, cytopenias, splenomegaly, hepatic dysfunctions, increased levels of triglyceride, ferritin and decreased levels of albumin and fibrinogen. Early diagnosis and interventions are crucial to reduce mortality risk but diagnosis is not often easy due to persistence of wide range of features that overlap with other rheumatic diseases, most commonly sJIA (systemic juvenile idiopathic arthritis). Corticosteroids and cyclosporins are commonly used for MAS treatment. Intravenous immunoglobulins, biologic agents like IL-1 blockers (anakinra, canakinumab), IL-6 blockers (tocilizumab) are also frequently used. Moreover there is still the need of genetic and immunohistological study in order to understand the exact mechanism of the syndrome development and establishment of novel therapies with lesser toxicities.

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Macrophage activation syndrome in adults with rheumatic disease

Cited by 3 publications

References 20 publications

Clinical Symptoms, Laboratory Parameters and Long-Term Follow-up in a National DADA2 Cohort

Clinical Symptoms, Laboratory Parameters and Long-Term Follow-up in a National DADA2 Cohort

The immune dysregulations in COVID-19: Implications for the management of rheumatic diseases

A Review on Macrophage Activation Syndrome

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