Diagnostic and therapeutic challenges in disseminated tuberculosis with bone marrow involvement and hemophagocytic lymphohistiocytosis: A case report and literature review

Background

Tuberculosis (TB)-associated hemophagocytic lymphohistiocytosis (HLH) is a rare and potentially fatal condition characterized by a hyperinflammatory response. Bone marrow TB poses unique diagnostic and therapeutic challenges, often leading to delayed diagnosis and treatment. Here, we report a case of disseminated TB with bone marrow involvement, characterized by unexplained fever, pancytopenia, liver dysfunction, and associated hemophagocytosis.

Case presentation

A 37-year-old woman with a history of diabetes, hypertension, and end-stage renal disease presented with unexplained fever, pancytopenia, and liver dysfunction. A diagnosis of disseminated TB with bone marrow involvement associated with HLH was established based on findings of bone marrow aspiration and biopsy, along with transjugular liver biopsy. Three months after anti-TB treatment, she developed a paradoxical upgrading reaction, for which she was treated with steroids for 5 weeks. The patient was successfully treated with anti-TB drugs and steroids. However, the pancytopenia persisted. A bone marrow biopsy was performed 14 months after the diagnosis. Nonetheless, there was no evidence of TB or any hematological abnormalities. Through our literature review, we summarized diagnostic findings, treatment, and clinical outcomes for 42 patients diagnosed with bone marrow tuberculosis with or without HLH.

Conclusions

The diagnosis and treatment of disseminated TB-associated HLH are challenging. Early recognition, use of all available diagnostic approaches, and individualized treatment are crucial for improving patient outcomes.