Case Report: Hemophagocytic lymphohistiocytosis masquerading as drug-induced liver injury: successful treatment with low-dose ruxolitinib and glucocorticoids - Summary - MDSpire
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Case Report: Hemophagocytic lymphohistiocytosis masquerading as drug-induced liver injury: successful treatment with low-dose ruxolitinib and glucocorticoids
To describe the clinical features, treatment, and outcomes of three adult patients presenting with DILI-mimicking HLH and evaluate the effectiveness of low-dose ruxolitinib combined with corticosteroids.
Key Findings:
All patients responded rapidly to the combination therapy, with progressive normalization of bilirubin and inflammatory markers.
Transient declines in blood counts occurred but resolved without intervention.
Genetic testing revealed heterozygous variants in immune-regulatory genes classified as variants of uncertain significance.
Interpretation:
HLH can initially present as severe DILI, posing diagnostic challenges. Short-course, low-dose ruxolitinib combined with corticosteroids is a safe and effective treatment in patients with hepatic-predominant HLH.
Limitations:
The study is based on a small sample size of three patients.
Genetic variants identified were classified as variants of uncertain significance, limiting definitive conclusions about their role.
Conclusion:
Early recognition and timely immunomodulatory therapy may improve outcomes in this life-threatening but treatable condition.