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

J Med Case Rep. 2021 Mar 1;15(1):98. doi: 10.1186/s13256-020-02623-2.


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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Aged, 80 and over
  • Bone Marrow / pathology
  • Chromosomes, Human, Pair 8
  • Fatal Outcome
  • Female
  • Humans
  • Karyotype
  • Lymphohistiocytosis, Hemophagocytic / diagnosis*
  • Lymphohistiocytosis, Hemophagocytic / genetics*
  • Myelodysplastic Syndromes / diagnosis*
  • Myelodysplastic Syndromes / genetics*
  • Trisomy

Supplementary concepts

  • Chromosome 8, trisomy