Multiple venous thromboembolisms in a pregnant patient carrying a novel mutation in SERPINC1 (p.M313T) that causes a transient antithrombin deficiency: a case report
Abstract Background Congenital antithrombin deficiency is an autosomal dominant disease that results in deep venous thrombosis and pulmonary embolism, which is mainly caused by mutations in the antithrombin gene (SERPINC1). Since SERPINC1 is highly susceptible to alterations, severe structural and f...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-12-01
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| Series: | Thrombosis Journal |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12959-023-00571-7 |
| _version_ | 1797388153810583552 |
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| author | Yuwen Huang Yinling Wang Xiaoli Wang Jue Liu Bing Luo Yuanmei Gao |
| author_facet | Yuwen Huang Yinling Wang Xiaoli Wang Jue Liu Bing Luo Yuanmei Gao |
| author_sort | Yuwen Huang |
| collection | DOAJ |
| description | Abstract Background Congenital antithrombin deficiency is an autosomal dominant disease that results in deep venous thrombosis and pulmonary embolism, which is mainly caused by mutations in the antithrombin gene (SERPINC1). Since SERPINC1 is highly susceptible to alterations, severe structural and functional changes that promote thrombosis may occur. Clinical presentations vary from different alterations. We report a pregnant case with novel mutation in SERPINC1 presenting transient antithrombin deficiency and multiple venous thromboembolisms. Case presentation We report a case of a 36-year-old pregnant patient who was diagnosed with congenital antithrombin deficiency for carrying a novel heterozygous mutation, NM_000488:exon5:c.T9 38 C:p. M313T in SERPINC1 presenting transient antithrombin deficiency and multiple venous thromboembolisms. Thrombolytic with alteplase and anticoagulant therapies with low-molecular-weight heparin and warfarin were administrated. After confirming the genetic analysis and the termination of pregnancy, rivaroxaban was administrated, and the thrombosis reduced. Conclusions Our study enriched the mutation database of SERPINC1 gene, provided some new theoretical basis for gene diagnosis and genetic counseling of patients with transient antithrombin deficiency. While it still needs for subsequent exploration of molecular pathogenesis. |
| first_indexed | 2024-03-08T22:36:43Z |
| format | Article |
| id | doaj.art-b9cf2bab59684cbd883a423766469c05 |
| institution | Directory Open Access Journal |
| issn | 1477-9560 |
| language | English |
| last_indexed | 2024-03-08T22:36:43Z |
| publishDate | 2023-12-01 |
| publisher | BMC |
| record_format | Article |
| series | Thrombosis Journal |
| spelling | doaj.art-b9cf2bab59684cbd883a423766469c052023-12-17T12:27:21ZengBMCThrombosis Journal1477-95602023-12-012111810.1186/s12959-023-00571-7Multiple venous thromboembolisms in a pregnant patient carrying a novel mutation in SERPINC1 (p.M313T) that causes a transient antithrombin deficiency: a case reportYuwen Huang0Yinling Wang1Xiaoli Wang2Jue Liu3Bing Luo4Yuanmei Gao5Department of Respiratory and Critical Care Medicine, The Third Affiliated Hospital of Guangzhou Medical UniversityDepartment of Critical Care Medicine, The Third Affiliated Hospital of Guangzhou Medical UniversityMaternal and Child Office, The Third Affiliated Hospital of Guangzhou Medical UniversityMedical Imaging Department, The Third Affiliated Hospital of Guangzhou Medical UniversityBlood Transfusion Department, The Third Affiliated Hospital of Guangzhou Medical UniversityDepartment of Respiratory and Critical Care Medicine, The Third Affiliated Hospital of Guangzhou Medical UniversityAbstract Background Congenital antithrombin deficiency is an autosomal dominant disease that results in deep venous thrombosis and pulmonary embolism, which is mainly caused by mutations in the antithrombin gene (SERPINC1). Since SERPINC1 is highly susceptible to alterations, severe structural and functional changes that promote thrombosis may occur. Clinical presentations vary from different alterations. We report a pregnant case with novel mutation in SERPINC1 presenting transient antithrombin deficiency and multiple venous thromboembolisms. Case presentation We report a case of a 36-year-old pregnant patient who was diagnosed with congenital antithrombin deficiency for carrying a novel heterozygous mutation, NM_000488:exon5:c.T9 38 C:p. M313T in SERPINC1 presenting transient antithrombin deficiency and multiple venous thromboembolisms. Thrombolytic with alteplase and anticoagulant therapies with low-molecular-weight heparin and warfarin were administrated. After confirming the genetic analysis and the termination of pregnancy, rivaroxaban was administrated, and the thrombosis reduced. Conclusions Our study enriched the mutation database of SERPINC1 gene, provided some new theoretical basis for gene diagnosis and genetic counseling of patients with transient antithrombin deficiency. While it still needs for subsequent exploration of molecular pathogenesis.https://doi.org/10.1186/s12959-023-00571-7Congenital antithrombin deficiencyGene mutationGenetic analysisPregnantTransient deficiencyVenous thromboembolism |
| spellingShingle | Yuwen Huang Yinling Wang Xiaoli Wang Jue Liu Bing Luo Yuanmei Gao Multiple venous thromboembolisms in a pregnant patient carrying a novel mutation in SERPINC1 (p.M313T) that causes a transient antithrombin deficiency: a case report Thrombosis Journal Congenital antithrombin deficiency Gene mutation Genetic analysis Pregnant Transient deficiency Venous thromboembolism |
| title | Multiple venous thromboembolisms in a pregnant patient carrying a novel mutation in SERPINC1 (p.M313T) that causes a transient antithrombin deficiency: a case report |
| title_full | Multiple venous thromboembolisms in a pregnant patient carrying a novel mutation in SERPINC1 (p.M313T) that causes a transient antithrombin deficiency: a case report |
| title_fullStr | Multiple venous thromboembolisms in a pregnant patient carrying a novel mutation in SERPINC1 (p.M313T) that causes a transient antithrombin deficiency: a case report |
| title_full_unstemmed | Multiple venous thromboembolisms in a pregnant patient carrying a novel mutation in SERPINC1 (p.M313T) that causes a transient antithrombin deficiency: a case report |
| title_short | Multiple venous thromboembolisms in a pregnant patient carrying a novel mutation in SERPINC1 (p.M313T) that causes a transient antithrombin deficiency: a case report |
| title_sort | multiple venous thromboembolisms in a pregnant patient carrying a novel mutation in serpinc1 p m313t that causes a transient antithrombin deficiency a case report |
| topic | Congenital antithrombin deficiency Gene mutation Genetic analysis Pregnant Transient deficiency Venous thromboembolism |
| url | https://doi.org/10.1186/s12959-023-00571-7 |
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