Diagnosis and management of rare acute erythroid leukemia with hemophagocytic lymphohistiocytosis: a case report

Introduction: Acute erythroid leukemia (AEL) complicated by hemophagocytic lymphohistiocytosis (HLH) is an exceedingly rare hematologic malignancy. Its diagnosis relies on a comprehensive assessment that includes bone marrow cytomorphology, immunophenotyping, cytogenetics, molecular profiling, and serum ferritin levels. Its management poses substantial clinical challenges, and the prognosis is generally guarded. Main symptoms and/or important clinical findings: /L). Ferritin levels exceeded 2000µg/L, lactate dehydrogenase (LDH) was elevated to 1414 U/L and triglyceride was normal. The coagulation profile indicated normal fibrinogen levels; however, its degradation product was elevated (7.70μg/mL), along with increased plasma D-dimer (1.48μg/mL). Elevated inflammatory markers included C-reactive protein (33.90mg/L) and procalcitonin (1.400ng/mL). A non-contrast computed tomography (CT) scan revealed bilateral pulmonary inflammatory exudation, atelectasis, and splenomegaly. The main diagnoses therapeutic interventions and outcomes: Comprehensive bone marrow evaluation confirmed a diagnosis of AEL complicated by secondary HLH. Initial therapy with a decitabine-CAG (aclacinomycin, cytarabine, G-CSF)-venetoclax regimen failed to induce remission. Morphological complete remission was achieved after switching to a DAE (daunorubicin, cytarabine, etoposide) regimen. Despite plans for allogeneic hematopoietic stem cell transplantation, the patient succumbed within 3 months of diagnosis. Conclusion: This case highlights the diagnostic and therapeutic complexities associated with the co-occurrence of AEL and HLH. Early identification of HLH as a potential complication in AEL is crucial, though outcomes remain dismal, emphasizing an urgent need for novel therapeutic strategies.