Diagnostic Challenges in Pediatric Hemophagocytic Lymphohistiocytosis.

TitleDiagnostic Challenges in Pediatric Hemophagocytic Lymphohistiocytosis.
Publication TypeJournal Article
Year of Publication2021
AuthorsSi SJ, Tasian SK, Bassiri H, Fisher BT, Atalla J, Patel R, Romberg N, Lambert MP, Paessler M, Behrens EJ, Teachey DT, Sullivan KE
JournalJ Clin Immunol
Date Published2021 Mar 24
ISSN1573-2592
Abstract

Hemophagocytic lymphohistiocytosis (HLH) is a syndrome of severe immune dysregulation that encompasses a broad range of underlying genetic diseases and infectious triggers. Monogenic conditions, autoimmune diseases, and infections can all drive the phenotype of HLH and associated immune hyperactivation with hypercytokinemia. A diagnosis of HLH usually requires a combination of clinical and laboratory findings; there is no single sensitive and specific diagnostic test, which often leads to "diagnostic dilemmas" and delays in treatment initiation. Ferritin levels, one of the most commonly used screening tests, were collected across a large tertiary care pediatric hospital to identify the positive predictive value for HLH. Herein, we present several cases that illustrate the clinical challenges of confirming an HLH diagnosis. Additionally, we report on the utility of establishing a formal multi-disciplinary group to aid the prompt diagnosis and treatment of patients presenting with HLH-like pathophysiologies.

DOI10.1007/s10875-021-01025-3
Alternate JournalJ Clin Immunol
PubMed ID33761058
PubMed Central IDPMC7988244