Challenges in Diagnosing Familial Hemophagocytic Lymphohistiocytosis: the Role of T-cell Biomarkers in the Early Diagnosis of Hereditary Hlh
Year: 2025
Type: article
Study design: Case Report
Abstract: Introduction: Hemophagocytic lymphohistiocytosis (HLH) is a rare and potentially life-threatening syndrome. In this article, we describe a case of hereditary HLH in an infant, highlighting the challenges in diagnosis and the significance of the biomarker CD38high/HLA-DR+ cells among CD8+ T cells for the early diagnosis of HLH. Case Presentation: A 1.5-month-old male infant presented with persistent fever and hepatosplenomegaly. Initial laboratory tests revealed pancytopenia, hyperferritinemia. Despite the similarity in clinical manifestations between HLH and sepsis, distinguishing the two is crucial due to their differing treatment approaches. Discussion: The infant's condition was complicated by acute T-cell activation, a finding characteristic of HLH but absent in sepsis. Specifically, CD38high/HLA-DR+ effector cells were identified with prominent CD8+ T-cell activation. These findings underscore the importance of specific biomarkers in the early diagnosis of HLH. Conclusion: The identification of CD38high/HLA-DR+ T cells may serve as a valuable diagnostic tool for clinicians in recognizing HLH early, ultimately guiding appropriate treatment.
Source: Tạp chí Y học Việt Nam
Authors: Thi Que Pham, Thi Huynh Nhu Nguyen, Thu Ha Nguyen, Manh Cuong Nguyen, Thien Hai Do, Van Lam Nguyen
Institution: Vietnam National Children's Hospital
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4409929651