Case report and literature review: Hemophagocytic lymphohistiocytosis in a pregnant woman with systemic lupus erythematosus with Syntaxin 11 gene defect
Hemophagocytic lymphohistiocytosis is an extremely rare occurrence during pregnancy. Early recognition of its signs and symptoms is critical for early intervention, and delays in diagnosis may be life-threatening. A 23-year-old nulliparous woman presented with a persistent fever as high as 39°C with...
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| Format: | Article |
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Frontiers Media S.A.
2022-07-01
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| Series: | Frontiers in Oncology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fonc.2022.937494/full |
| _version_ | 1828359346169315328 |
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| author | Wei Ren Siyuan Yang Haiying Liu Zhenglun Pan Zhao Li Peng Qiao Hui Ma |
| author_facet | Wei Ren Siyuan Yang Haiying Liu Zhenglun Pan Zhao Li Peng Qiao Hui Ma |
| author_sort | Wei Ren |
| collection | DOAJ |
| description | Hemophagocytic lymphohistiocytosis is an extremely rare occurrence during pregnancy. Early recognition of its signs and symptoms is critical for early intervention, and delays in diagnosis may be life-threatening. A 23-year-old nulliparous woman presented with a persistent fever as high as 39°C with bilateral edema of the lower limbs at 24 weeks of gestation. Typical laboratory findings included pancytopenia, high triglycerides, ferritin, transaminases, bilirubin, and hypoproteinemia. Active systemic lupus erythematosus was diagnosed using an autoimmune work-up and a Systemic Lupus Erythematosus Disease Activity Index 2000 score of 17 points. Her bone marrow aspirate revealed prominent hemophagocytosis; hence, HLH was confirmed. Genetic tests showed mutations in Syntaxin 11 mutations. Considering the potential impact of drugs on the fetus, the patient and her family members chose to terminate the pregnancy through medical induction of labor. Afterwards, her condition improved with immunosuppressive therapy. |
| first_indexed | 2024-04-14T03:41:22Z |
| format | Article |
| id | doaj.art-554239229d2a4f15845c113cfd822f35 |
| institution | Directory Open Access Journal |
| issn | 2234-943X |
| language | English |
| last_indexed | 2024-04-14T03:41:22Z |
| publishDate | 2022-07-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Oncology |
| spelling | doaj.art-554239229d2a4f15845c113cfd822f352022-12-22T02:14:31ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2022-07-011210.3389/fonc.2022.937494937494Case report and literature review: Hemophagocytic lymphohistiocytosis in a pregnant woman with systemic lupus erythematosus with Syntaxin 11 gene defectWei Ren0Siyuan Yang1Haiying Liu2Zhenglun Pan3Zhao Li4Peng Qiao5Hui Ma6Department of Gynaecology and Obstetrics, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Qingdao, ChinaCollege of Clinical Medicine, Weifang Medical University, Weifang, ChinaDepartment of Gynaecology and Obstetrics, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Qingdao, ChinaDepartment of Rheumatism and Immunology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Qingdao, ChinaDepartment of Hematology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Qingdao, ChinaDepartment of Gynaecology and Obstetrics, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Qingdao, ChinaDepartment of Gynaecology and Obstetrics, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Qingdao, ChinaHemophagocytic lymphohistiocytosis is an extremely rare occurrence during pregnancy. Early recognition of its signs and symptoms is critical for early intervention, and delays in diagnosis may be life-threatening. A 23-year-old nulliparous woman presented with a persistent fever as high as 39°C with bilateral edema of the lower limbs at 24 weeks of gestation. Typical laboratory findings included pancytopenia, high triglycerides, ferritin, transaminases, bilirubin, and hypoproteinemia. Active systemic lupus erythematosus was diagnosed using an autoimmune work-up and a Systemic Lupus Erythematosus Disease Activity Index 2000 score of 17 points. Her bone marrow aspirate revealed prominent hemophagocytosis; hence, HLH was confirmed. Genetic tests showed mutations in Syntaxin 11 mutations. Considering the potential impact of drugs on the fetus, the patient and her family members chose to terminate the pregnancy through medical induction of labor. Afterwards, her condition improved with immunosuppressive therapy.https://www.frontiersin.org/articles/10.3389/fonc.2022.937494/fullhemophagocytic lymphohistiocytosissystemic lupus erythematosuspregnantSyntaxin 11cyclosporine A |
| spellingShingle | Wei Ren Siyuan Yang Haiying Liu Zhenglun Pan Zhao Li Peng Qiao Hui Ma Case report and literature review: Hemophagocytic lymphohistiocytosis in a pregnant woman with systemic lupus erythematosus with Syntaxin 11 gene defect Frontiers in Oncology hemophagocytic lymphohistiocytosis systemic lupus erythematosus pregnant Syntaxin 11 cyclosporine A |
| title | Case report and literature review: Hemophagocytic lymphohistiocytosis in a pregnant woman with systemic lupus erythematosus with Syntaxin 11 gene defect |
| title_full | Case report and literature review: Hemophagocytic lymphohistiocytosis in a pregnant woman with systemic lupus erythematosus with Syntaxin 11 gene defect |
| title_fullStr | Case report and literature review: Hemophagocytic lymphohistiocytosis in a pregnant woman with systemic lupus erythematosus with Syntaxin 11 gene defect |
| title_full_unstemmed | Case report and literature review: Hemophagocytic lymphohistiocytosis in a pregnant woman with systemic lupus erythematosus with Syntaxin 11 gene defect |
| title_short | Case report and literature review: Hemophagocytic lymphohistiocytosis in a pregnant woman with systemic lupus erythematosus with Syntaxin 11 gene defect |
| title_sort | case report and literature review hemophagocytic lymphohistiocytosis in a pregnant woman with systemic lupus erythematosus with syntaxin 11 gene defect |
| topic | hemophagocytic lymphohistiocytosis systemic lupus erythematosus pregnant Syntaxin 11 cyclosporine A |
| url | https://www.frontiersin.org/articles/10.3389/fonc.2022.937494/full |
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