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Peer-reviewedCC BY 4.0Journal of Clinical Medicine

Tuberculosis-Associated Hemophagocytic Lymphohistiocytosis with Bone Marrow Involvement: Case Report and Literature Review

  • Yixian You1
  • He Li2
  • Xiong Pei1
  • Dongbo Wu1
  • Xiaoju Lv1
  • Yu Wu2
  1. 1Center of Infectious Diseases, West China Hospital of Sichuan University, Chengdu 610041, China
  2. 2Department of Hematology and Hematology Research Institute, West China Hospital of Sichuan University, Chengdu 610041, China
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Abstract

Tuberculosis is a rare but fatal trigger of secondary hemophagocytic lymphohistiocytosis (HLH). Its diagnosis is challenging because clinical manifestations overlap with HLH, and immunological tests may be falsely negative in HLH-related immune dysfunction. We report a case of a 34-year-old male with fever and pancytopenia. The patient’s diagnostic course was protracted and misleading: all conventional tuberculosis immunological tests were negative, and he initially did not meet HLH-2004 criteria. The diagnosis of TB-HLH was eventually established by a second bone marrow biopsy and metagenomic next-generation sequencing. We also reviewed 66 TB-HLH cases, revealing frequent negative immunological test results and showing that timely anti-tuberculosis therapy was associated with reduced mortality (78.3% vs. 15.0%, p < 0.001). This case and our review underscore the importance of early bone marrow biopsy and molecular testing in unexplained HLH, particularly when tuberculosis tests are negative. Given the high mortality and frequent diagnostic delay, clinicians should maintain a high index of suspicion and pursue aggressive diagnostic workup for tuberculosis in HLH patients without a clear trigger. Furthermore, we emphasize the need to raise awareness of TB-HLH and to interpret immunological test results with caution in HLH patients, as negative findings should not be used to exclude tuberculosis.

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Cite

BibTeXRIS
BibTeX
@article{you2026tuberculosisassociated,
  title = {{Tuberculosis-Associated Hemophagocytic Lymphohistiocytosis with Bone Marrow Involvement: Case Report and Literature Review}},
  author = {Yixian You and He Li and Xiong Pei and Dongbo Wu and Xiaoju Lv and Yu Wu},
  journal = {Journal of Clinical Medicine},
  year = {2026},
  month = oct,
  doi = {10.3390/jcm15218240},
  url = {https://www.mdpi.com/2077-0383/15/21/8240},
  note = {CC BY 4.0},
}
RIS
TY  - JOUR
TI  - Tuberculosis-Associated Hemophagocytic Lymphohistiocytosis with Bone Marrow Involvement: Case Report and Literature Review
AU  - Yixian You
AU  - He Li
AU  - Xiong Pei
AU  - Dongbo Wu
AU  - Xiaoju Lv
AU  - Yu Wu
PY  - 2026
DA  - 2026/10/23
JO  - Journal of Clinical Medicine
DO  - 10.3390/jcm15218240
UR  - https://www.mdpi.com/2077-0383/15/21/8240
AB  - Tuberculosis is a rare but fatal trigger of secondary hemophagocytic lymphohistiocytosis (HLH). Its diagnosis is challenging because clinical manifestations overlap with HLH, and immunological tests may be falsely negative in HLH-related immune dysfunction. We report a case of a 34-year-old male with fever and pancytopenia. The patient’s diagnostic course was protracted and misleading: all conventional tuberculosis immunological tests were negative, and he initially did not meet HLH-2004 criteria. The diagnosis of TB-HLH was eventually established by a second bone marrow biopsy and metagenomic next-generation sequencing. We also reviewed 66 TB-HLH cases, revealing frequent negative immunological test results and showing that timely anti-tuberculosis therapy was associated with reduced mortality (78.3% vs. 15.0%, p < 0.001). This case and our review underscore the importance of early bone marrow biopsy and molecular testing in unexplained HLH, particularly when tuberculosis tests are negative. Given the high mortality and frequent diagnostic delay, clinicians should maintain a high index of suspicion and pursue aggressive diagnostic workup for tuberculosis in HLH patients without a clear trigger. Furthermore, we emphasize the need to raise awareness of TB-HLH and to interpret immunological test results with caution in HLH patients, as negative findings should not be used to exclude tuberculosis.
SN  - 2077-0383
ER  -