SHM Converge Scientific Abstract ePoster Gallery-A Puzzling Case of Pancytopenia.

Pdf Summary

This case describes a 39-year-old woman with sickle cell anemia and moyamoya disease who was admitted for a vaso-occlusive pain crisis after multiple recent hospitalizations and blood transfusions. During her course, she developed progressive pancytopenia with severe thrombocytopenia, neutropenia, and marked reticulocytopenia, along with worsening weakness, intractable pain, and very high ferritin (~18,000). These findings raised concern for hemophagocytic lymphohistiocytosis (HLH), a rare but potentially fatal cause of pancytopenia.<br /><br />Because HLH can mimic complications of sickle cell disease, diagnosis is challenging. In this patient, the combination of trilineage cytopenias, severe reticulocytopenia, and hyperferritinemia supported the diagnosis, and treatment with high-dose steroids and etoposide was started based on high clinical suspicion. Bone marrow biopsy confirmed HLH by showing prominent hemophagocytosis, with histiocytes containing phagocytosed erythrocytes. The marrow also showed changes consistent with sickle cell anemia, including increased erythroid precursors and megaloblastic changes.<br /><br />Despite treatment, her condition worsened. She developed polymicrobial sepsis, acute respiratory failure requiring intubation and mechanical ventilation, and acute kidney injury requiring hemodialysis. After a prolonged one-month hospitalization, she died from multi-organ failure.<br /><br />The report emphasizes that adult HLH is usually acquired and may be triggered by infection, malignancy, autoimmune disease, drugs, or blood transfusion. In this case, the exact trigger was unclear, although she had received numerous transfusions. The authors highlight that recognizing HLH in sickle cell patients is crucial because early diagnosis and treatment may be lifesaving, but immunosuppressive therapy also increases the risk of severe infection.

Asset Subtitle

Yoo Mee Shin

Meta Tag

Author List Ketino Kobaidze, Prathima Pangulur, Vanajakshi Bollineni, Yoo Mee Shin

Category Clinical Vignettes

Concept Hemophagocytic Lymphohistiocytosis

Concept Pancytopenia

Concept Trilineage Cytopenia

Concept Hemophagocytosis

Concept Diagnostic Criteria

Distinguished Finalist

Presenter Organization Emory University School of Medicine

Presenting Author Yoo Mee Shin

Track Adult

Keywords

sickle cell anemia

moyamoya disease

hemophagocytic lymphohistiocytosis

pancytopenia

hyperferritinemia

reticulocytopenia

bone marrow biopsy

hemophagocytosis

blood transfusion

multi-organ failure

Hemophagocytic Lymphohistiocytosis

Pancytopenia

Trilineage Cytopenia

Hemophagocytosis

Diagnostic Criteria