SHM Converge Scientific Abstract ePoster Gallery-Missed Diagnosis of Systemic Sarcoidosis Causing Severe Pancytopenia and Macrophage Activation Syndrome During Prolonged Hospitalization

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This case describes a 59-year-old woman admitted with severe pancytopenia who was initially believed to have systemic lupus erythematosus (SLE), lymphoproliferative disease, or autoimmune peripheral cell destruction. She presented with marked cytopenias, diffuse lymphadenopathy, and splenomegaly. Despite extensive evaluation, including three bone marrow biopsies, the diagnosis remained unclear. Common sarcoidosis markers such as ACE and 1,25 vitamin D were normal, contributing to diagnostic difficulty.<br /><br />Over a 62-day hospitalization, she received multiple immunosuppressive and supportive therapies, including high-dose steroids, IVIG, mycophenolate mofetil, rituximab, romiplostim, G-CSF, and transfusions, without improvement. Her course was complicated by ICU stays, infectious complications, and episodes of distributive shock. Because of persistent cytopenias and rising inflammatory markers, macrophage activation syndrome (MAS) was considered. She had an elevated soluble IL-2 receptor, later elevated ferritin, low fibrinogen, splenomegaly, and severe cytopenias, although hemophagocytosis was not found on bone marrow biopsy.<br /><br />Splenectomy was attempted but deferred due to intraoperative findings of turbid ascites and adhesions. The patient later suffered cardiac arrest and died after transition to comfort care. Autopsy revealed systemic extrapulmonary sarcoidosis involving the spleen, bone marrow, pulmonary lymph nodes, and subcutaneous fat, with granulomas identified in these tissues. Retrospective review showed that a pre-mortem bone marrow biopsy had also contained subtle granulomatous changes.<br /><br />The authors emphasize that sarcoidosis can cause splenomegaly and pancytopenia and may present with MAS. The case highlights diagnostic anchoring on an initial SLE diagnosis, overreliance on negative bone marrow biopsies, and the challenges of recognizing slowly evolving abnormalities during prolonged hospitalization. A splenic or lymph node biopsy may have enabled earlier diagnosis.

Asset Subtitle

Katie E. Raffel

Meta Tag

Author List Armond Esmaili, Cynthia Fenton, Katie E. Raffel, Molly A. Kantor, Peter Barish

Category Clinical Vignettes

Concept Systemic Sarcoidosis

Concept Macrophage Activation Syndrome

Concept Noncaseating Granuloma

Concept Splenomegaly

Concept Pancytopenia

Distinguished Non-Finalist

Presenter Organization University of Colorado Anschutz

Presenting Author Katie E. Raffel

Track Adult

Keywords

sarcoidosis

pancytopenia

splenomegaly

lymphadenopathy

macrophage activation syndrome

bone marrow biopsy

granulomas

systemic lupus erythematosus

immunosuppressive therapy

autopsy

Systemic Sarcoidosis

Macrophage Activation Syndrome

Noncaseating Granuloma

Splenomegaly

Pancytopenia