Background: Hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening hyperinflammatory syndrome resulting from uncontrolled activation of cytotoxic T cells and macrophages. It often mimics sepsis, severe viral infections, or autoimmune hepatitis, leading to delayed diagnosis. While primary HLH arises from genetic defects in cytotoxic function and typically manifests in childhood, most adult cases are secondary, triggered by infection, malignancy, or autoimmune disease. Acute liver failure (ALF) as the predominant presentation of HLH is rare and diagnostically challenging, particularly when no clear trigger is identified.
Case summary: We describe a 24-year-old previously healthy Saudi woman with no significant past medical history, who presented with a monthlong history of fever, jaundice, dark urine, and right upper quadrant abdominal pain. Laboratory evaluation revealed acute fulminant liver failure with coagulopathy, bicytopenia (Hb 9.0 g/dL, platelets 54 × 10⁹/L), and extreme hyperferritinemia (>33,511 µg/L).Despite extensive evaluation, infectious, autoimmune, and metabolic causes were excluded. Her neurological status deteriorated, with EEG showing subclinical status epilepticus, requiring ICU admission and intubation. The H-Score was 259, indicating >99% probability of HLH, and bone marrow biopsy confirmed hemophagocytosis. She was treated with Emapalumab (anti–IFN-γ), intravenous immunoglobulin, and corticosteroids. Despite therapy, her condition progressed to multiorgan failure, and she died after 22 days of admission.
Conclusion: This case illustrates an unusual presentation of secondary HLH manifesting as acute liver failure, without an identifiable trigger. We highlight the importance of early consideration of HLH in adults with unexplained ALF and hyperferritinemia, as delayed diagnosis may preclude life-saving immunotherapy.
KW: HLH, Acute liver failure, Hemophagocytic Lymphohistiocytosis, Case report UL https://www.dawnmed.com.sa/../abstract?article_id=6