Background: Macrophage activation syndrome (MAS) is a serve complication of juvenile idiopathic inflammatory myopathies (JIIMs). This study delineates the clinical manifestations and genetic underpinnings of JIIM-MAS patients.
Methods: We retrospectively analysed clinical and UNC13D gene from JIIM patients admitted to our centre between 2011 and 2021 to identify cases of MAS. Additionally, a literature review summarising reported cases of JIIMs and MAS was performed.
Results: Of 773 JIIM patients, 10 (1.3%) were diagnosed with MAS. All patients presented with persistent fever and hyperferritinaemia. Seventy percent of patients met the HLH-2004 criteria, while 90% met the 2016 sJIA-MAS criteria. Most patients received combined treatment of corticosteroids and immunosuppressants. UNC13D gene analysis was performed in six patients. A homozygous pathogenic mutation (c.2588G>A) was detected in one patient with recurrent MAS, and twenty-eight single-nucleotide polymorphisms (SNPs) were detected. Eighty percent of patients exhibiting a consistent combination of ten SNPs compared to JIIM patients without MAS (35%).
Conclusion: MAS is an early and often overlooked complication of JIIMs. The 2016 sJIA-MAS criteria may facilitate early diagnosis. Combined corticosteroid and immunosuppressant therapy prove effective. An increased prevalence of UNC13D gene polymorphisms was observed in JIIM-MAS patients, highlighting the necessity for further investigations.
Impact: This study aimed to delineate the clinical manifestations and genetic underpinnings of macrophage activation syndrome (MAS) in ten patients with juvenile idiopathic inflammatory myopathies (JIIMs). MAS has been recognised as a complication of JIIMs. However, only a few case reports provide comprehensive descriptions of MAS in JIIM patients, and there are few reports related to UNC13D mutations in these patients. This article offers single-centre clinical insights to enhance the identification and management of MAS in JIIM patients, while also highlighting the potential association between MAS occurrence and UNC13D gene polymorphisms.
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