Open AccessMisdiagnosis of adult primary hemophagocytic lymphohistiocytosis as NK/T‐cell lymphoma: A case report
Author(s) -
Kong Qi,
Wang Jingshi,
Zhang Yanlin,
Hu Junxia,
Yu Mingzhu,
Wu Lin,
Wang Zhao
Publication year - 2022
Publication title -
ejhaem
Language(s) - English
Resource type - Journals
ISSN - 2688-6146
DOI - 10.1002/jha2.564
Subject(s) - hemophagocytic lymphohistiocytosis , medicine , lymphoma , hemophagocytosis , primary (astronomy) , t cell lymphoma , immunology , pathology , disease , physics , bone marrow , pancytopenia , astronomy
We reported a case of a 19‐year‐old male patient with central nervous system symptoms as the main clinical manifestations, and multiple intracranial and abdominal occupying lesions visualized by imaging examinations, who was initially misdiagnosed as NK/T‐cell lymphoma but poorly responsive to the treatment. Finally, he was diagnosed as familial hemophagocytic lymphohistiocytosis type‐2 by genome sequencing, perforin test and pedigree study. The patient survived well after allogeneic hematopoietic stem cell transplantation. Central nervous system symptoms could be the main clinical manifestations in patients with primary hemophagocytic lymphohistiocytosis , whose early‐stage manifestations of blood system were usually atypical, easily leading to misdiagnosis. In clinical practice, primary hemophagocytic lymphohistiocytosis should be considered in patients with central nervous system symptoms and unknown causes. The combination of rapid immunological function test and genome sequencing contributes to the diagnosis of primary hemophagocytic lymphohistiocytosis.