Immune dysregulation syndrome associated with inborn errors of metabolism – hemophagocytic lymphohistiocytosis in the context of isovaleric acidemia: a case report - Report - MDSpire
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Immune dysregulation syndrome associated with inborn errors of metabolism – hemophagocytic lymphohistiocytosis in the context of isovaleric acidemia: a case report
Clinical Report: Immune Dysregulation Disorders Linked to Metabolic Inborn Errors
Overview
This report highlights a case of hemophagocytic lymphohistiocytosis (HLH) in an 18-month-old boy with isovaleric acidemia, illustrating the diagnostic challenges posed by metabolic disorders. The identification of a pathogenic variant in the IVD gene reframed the clinical understanding of HLH as a manifestation of an underlying metabolic condition.
Background
Hemophagocytic lymphohistiocytosis (HLH) is a severe hyperinflammatory syndrome that can lead to multiorgan failure, particularly in pediatric patients. Secondary HLH can arise from various triggers, including infections and metabolic disorders, which are often overlooked. Understanding the interplay between metabolic inborn errors and HLH is crucial for timely diagnosis and management.
Data Highlights
No numerical data or trial data presented in the article.
Key Findings
An 18-month-old boy presented with HLH fulfilling seven of the eight HLH-2004 criteria.
Concurrent infections with adenovirus and parainfluenza virus type III were identified.
A pathogenic variant in the IVD gene confirmed the diagnosis of isovaleric acidemia.
HLH was reframed as a consequence of metabolic dysregulation rather than an isolated hyperinflammatory syndrome.
Recognition of metabolic disorders as triggers for HLH can shift diagnostic focus and management strategies.
Clinical Implications
Clinicians should consider metabolic inborn errors when diagnosing HLH, especially in pediatric patients. Early identification of underlying metabolic conditions can lead to tailored management strategies that address both the hyperinflammatory response and the metabolic disorder.
Conclusion
This case underscores the importance of recognizing metabolic disorders as potential triggers for HLH, which may alter the approach to diagnosis and treatment in pediatric critical care settings.
