SHM Converge Scientific Abstract ePoster Gallery-Hemophagocytic Lymphohistiocytosis Triggered by Systemic Mastocytosis

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This case report describes hemophagocytic lymphohistiocytosis (HLH) triggered by systemic mastocytosis (SM) in a 79-year-old woman who presented with fatigue, asymptomatic hyperbilirubinemia, anemia, and thrombocytopenia over six months. HLH is a rare but severe hyperinflammatory syndrome that can lead to multiorgan failure if untreated. In adults, it is usually secondary to triggers such as infection, malignancy, or autoimmune disease.<br /><br />Workup showed splenomegaly on CT, elevated inflammatory markers including ferritin, CRP, CXCL9, IL-18, and soluble IL-2 receptor, and bone marrow biopsy revealing systemic mastocytosis with associated hematologic neoplasm and large histiocytic aggregates. Molecular testing identified the KIT D816V mutation. The presentation supported a diagnosis of HLH based on diagnostic criteria, including cytopenias, splenomegaly, hyperferritinemia, and bone marrow histiocytic infiltration.<br /><br />The report also reviews diagnostic criteria for both HLH and systemic mastocytosis. HLH is diagnosed using at least 5 of 9 criteria, including fever, splenomegaly, cytopenias, elevated ferritin, hemophagocytosis, and immune activation markers. Systemic mastocytosis is diagnosed by major and minor criteria such as mast cell aggregates in bone marrow, KIT D816V mutation, abnormal CD25 expression, elevated tryptase, and atypical mast cells.<br /><br />The patient was treated with steroids and midostaurin, a targeted therapy used in systemic mastocytosis. The authors emphasize that HLH is a rare but important complication of systemic mastocytosis and that recognizing the underlying trigger is essential for effective management.

Asset Subtitle

Ashmin Singh

Meta Tag

Author List Abeer Alfaraj, Ashmin Singh, Iftekhar Khan, Keertana Seeli, Vandana Bandari

Category Clinical Vignettes

Concept Hemophagocytic Lymphohistiocytosis

Concept Systemic Mastocytosis

Concept Secondary hemophagocytic lymphohistiocytosis

Concept Cytopenia

Concept Ferritin

Distinguished Non-Finalist

Presenter Organization Bayhealth Hospital

Presenting Author Ashmin Singh

Track Adult

Keywords

hemophagocytic lymphohistiocytosis

systemic mastocytosis

HLH

KIT D816V

splenomegaly

hyperferritinemia

bone marrow biopsy

cytopenias

midostaurin

hyperinflammatory syndrome

Hemophagocytic Lymphohistiocytosis

Systemic Mastocytosis

Secondary hemophagocytic lymphohistiocytosis

Cytopenia

Ferritin