Unmasking Idiopathic Secondary Hemophagocytic Lymphohistiocytosis in a Young Female: A Diagnostic Challenge Presenting as Pyrexia of Unknown Origin
Year: 2025
Type: article
Study design: Case Report
Abstract: Hemophagocytic lymphohistiocytosis (HLH) is a hyperinflammatory syndrome that can present as prolonged fever of unknown origin (FUO). We describe the case of a 26-year-old woman who presented with two months of intermittent high-grade fever, joint pain, and transient salmon-colored skin rashes. Laboratory investigations revealed cytopenia, elevated triglycerides, abnormal liver enzymes, and a markedly elevated serum ferritin level (>10,000 ng/mL). Extensive evaluation for infectious and autoimmune causes was negative. Whole-body PET-CT demonstrated diffusely increased marrow activity with small mesenteric lymph nodes, while bone marrow examination confirmed hemophagocytosis. The patient met six of the HLH-2004 diagnostic criteria, and her HScore was calculated at 228, indicating a high probability of HLH. In the absence of any identifiable trigger, a diagnosis of idiopathic secondary HLH was made. She was treated with dexamethasone monotherapy, which led to rapid resolution of fever, normalization of laboratory parameters, and sustained remission at three-month follow-up. This case underscores the importance of considering HLH early in adults with unexplained fever, cytopenia, and extreme hyperferritinemia, and highlights that corticosteroid monotherapy may be sufficient in selected idiopathic cases.
Authors: Anamitra Hait, Shridhar Jayagopalan, Arbind Kumar Choudhary
Institution: Indian Railways
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W7108230463
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