SHM Converge Scientific Abstract ePoster Gallery-Sarcoidosis Misdiagnosis: An Atypical Presentation of HLH

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This case describes a 69-year-old man with a prior diagnosis of sarcoidosis who was admitted after a positive QuantiFERON Gold test prompted evaluation for tuberculosis. He had chronic fatigue, weakness, and mild dyspnea but no classic infectious symptoms. Initial workup had previously shown non-necrotizing granulomatous lymphadenitis on axillary lymph node biopsy, leading to a diagnosis of sarcoidosis, despite atypical features including late age of onset and diffuse osseous involvement on PET scan.<br /><br />During the current evaluation, labs revealed anemia, thrombocytopenia, hypertriglyceridemia, very low fibrinogen, and markedly elevated ferritin that rose from 19,827 to over 40,000, with an extremely elevated soluble IL-2 receptor level. Imaging showed widespread hypermetabolic activity in the skeleton, lymph nodes, spleen, liver, and pancreas. A repeat right axillary lymph node biopsy and bone marrow biopsy ultimately confirmed large B-cell lymphoma with a T-cell-rich background, and molecular testing identified a CIITA::BCL6 translocation.<br /><br />The patient met criteria for hemophagocytic lymphohistiocytosis (HLH) secondary to lymphoma. He was treated with R-EPOCH chemotherapy, with significant PET response after three months and resolution of HLH. He continued rituximab after completing R-EPOCH. Latent TB was also treated with isoniazid and vitamin B6 for six months.<br /><br />The case highlights the importance of reassessing the differential diagnosis when clinical or radiographic findings do not fit the presumed diagnosis. It also demonstrates how anchoring bias, diagnostic momentum, and premature closure can delay recognition of lymphoma and HLH, even in a clinically stable patient.

Asset Subtitle

Sarah Wang

Meta Tag

Author List Chanidapa Klinhom, Darin Poei, Evan J. Chen, Kevin S. Wei, Mollee Chu, Sarah Wang, Vivian H. LeTran

Category Clinical Vignettes

Concept Malignancy

Concept Hemophagocytic Lymphohistiocytosis

Concept Lymphoma

Concept Lymphoma-Associated Hemophagocytic Lymphohistiocytosis

Concept Sarcoidosis

Distinguished Non-Finalist

Presenter Organization University of Southern California

Presenting Author Sarah Wang

Track Adult

Keywords

sarcoidosis

large B-cell lymphoma

hemophagocytic lymphohistiocytosis

HLH

QuantiFERON Gold

granulomatous lymphadenitis

CIITA::BCL6 translocation

PET scan

hyperferritinemia

diagnostic bias

Malignancy

Hemophagocytic Lymphohistiocytosis

Lymphoma

Lymphoma-Associated Hemophagocytic Lymphohistiocytosis

Sarcoidosis