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Case Report: Successful avoidance of etoposide for primary hemophagocytic lymphohistiocytosis-induced multiple organ
Timothy J Hahn1,2, Daniel J McKeone2,3, James W Beal4
1Division of Pediatric Rheumatology, Department of Pediatrics, Penn State University College of Medicine, Hershey, PA, United States.
Abstract:
We describe the case of an infant who presented with simple rhinovirus/enterovirus bronchiolitis whose condition worsened with rapid progression to multiple organ dysfunction syndrome (MODS). The patient was presumed to have either primary or secondary hemophagocytic lymphohistiocytosis (HLH), and treatment was initiated using dexamethasone, anakinra, and intravenous immunoglobulin to modulate the immune system. Due to the organ dysfunction, the use of etoposide was avoided and instead, emapalumab, an interferon gamma antagonist, was administered at a dose of 6 mg/kg. The patient's organ failure improved, and the levels of inflammatory markers decreased. The flow cytometry analysis revealed that cytotoxic cells lacked perforin expression, and subsequent genetic analysis confirmed homozygous pathogenic mutations in the perforin gene. This case highlights the potential avoidance of etoposide in cases of primary HLH, the possible benefit of an elevated initial dose of emapalumab, and the contribution offered by a multi-specialty team approach to complex diagnosis.
Insights
A severe infant illness initially diagnosed as bronchiolitis rapidly progressed to multiple organ dysfunction syndrome, suspected to be hemophagocytic lymphohistiocytosis (HLH). Treatment with emapalumab, an interferon gamma antagonist, led to improvement, and genetic testing revealed perforin gene mutations.
Area of Science:
- Pediatric critical care medicine
- Immunology
- Genetics
Background:
- Infants can develop severe illness from common viral infections.
- Rhinovirus/enterovirus bronchiolitis can rarely progress to life-threatening conditions like multiple organ dysfunction syndrome (MODS).
- Hemophagocytic lymphohistiocytosis (HLH) is a severe hyperinflammatory syndrome requiring prompt diagnosis and management.
Observation:
- An infant with rhinovirus/enterovirus bronchiolitis rapidly developed MODS.
- The clinical presentation suggested primary or secondary hemophagocytic lymphohistiocytosis (HLH).
- Treatment included immunomodulatory agents and emapalumab, an interferon gamma antagonist, due to organ dysfunction precluding etoposide use.
Findings:
- Emapalumab administration resulted in improved organ function and decreased inflammatory markers.
- Flow cytometry identified a lack of perforin expression on cytotoxic cells.
- Genetic analysis confirmed homozygous pathogenic mutations in the perforin gene (PRF1), confirming primary HLH.
Implications:
- This case suggests emapalumab may be a viable alternative to etoposide in specific primary HLH cases.
- An elevated initial dose of emapalumab might offer therapeutic benefits.
- A multidisciplinary team approach is crucial for diagnosing and managing complex pediatric critical care cases.
