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Review
. 2021 Mar 1;15(1):98.
doi: 10.1186/s13256-020-02623-2.

Hemophagocytic lymphohistiocytosis and myelodysplastic syndrome: a case report and review of the literature

Y Sun  1 , C Blieden  2 , B Y Merritt  3 , R Sosa  1   4 , Gustavo Rivero  5   6
Affiliations
Review

Hemophagocytic lymphohistiocytosis and myelodysplastic syndrome: a case report and review of the literature

Y Sun et al. J Med Case Rep. .

Abstract

Background: Hemophagocytic lymphohistiocytosis (HLH) is characterized by hyperinflammation and life-threatening cytopenias. Survival is poor, and management is pivotal on rapid identification of the disease. HLH is associated with hematologic malignancies, however correlation with myelodysplastic syndromes (MDS) is exceedingly unusual. Although minimizing overwhelming hyperinflammation by treating hemophagocytosis are central for HLH outcome, there is urgent necessity to identify potential initiating mechanisms that could assist in therapy design.

Case description: Here, we describe an elderly African American patient who developed rapid onset of cytopenias and coagulopathy associated with hepatic and bone marrow hemophagocytosis. We analyze four additional similar cases to isolate clinical, laboratory and cytogenetic findings expected in patients exhibiting concurrent HLH and MDS. HLH linked with MDS retains common HLH features associated with systemic hyperinflammation such as fever, hypotension, hepatosplenomegaly, hyperferritinemia, coagulopathy and rapidly evolving cytopenias. Typical MDS chromosomic abnormality such as trisomy 8 was frequently observed in our studied cases.

Conclusion: Our case describes difficulties while managing HLH in MDS patients. Diagnosis should be based on identifying HLH appropriate criteria and if possible karyotypic abnormalities normally observed in MDS.

Keywords: Hemophagocytic lymphohistiocytosis; Hyperinflammation; Myelodysplastic syndrome.

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Conflict of interest statement

Dr. Sun, Dr. Blieden, Dr. Merritt, Dr. Sosa and Dr. Rivero reported no conflict of interest.

Figures

Figure 1.
Figure 1.
Bone marrow hemophagocytosis and dysplastic changes in a trisomy 8 myelodysplastic syndrome patient. a Bone marrow aspirate smear revealing active hemophagocytosis. Erythroid cells are phagocytized by histiocytic cells. b Bone marrow aspirate showing neutrophil phagocytized by histiocytic cell. Peripherally to hemophagocytosis, erythroid precursor shows megaloblastic changes. Additionally, hyposegmented neutrophils are observed. c Nucleated red cell showing nuclear fragmentation with dysmorphic features suggesting dysplasia
See this image and copyright information in PMC

References

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Supplementary concepts