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Background <p>Hereditary antithrombin deficiency, an autosomal-dominant thrombotic disease caused by a <i>SERPINC1</i> gene deficiency, is extremely rare, although it is the leading cause of hereditary thrombophilias. Herein we report a novel <i>SERPINC1</i> gene mutation in a Chinese family and one case of pulmonary embolism associated with the mutation. We also discuss the latest diagnostic and treatment strategies for antithrombin deficiency.</p> Case presentation <p>The 33-year-old Chinese male proband had a pulmonary embolism and there was no evidence of thromboembolism in the other family members. In the pulmonary embolism case, treatment with nadroparin calcium combined with warfarin failed; however, rivaroxaban was effective. No emboli were evident in the follow-up computed tomography pulmonary angiography. Antithrombin activity fluctuated approximately 50% during hospitalization and follow-up. The antithrombin activity of the proband, his 58-year-old father, and his 5-year-old son was significantly low (44–48%). A novel missense variant c.1148&#xa0;T &gt; A (p.L383H) in the <i>SERPINC1</i> gene was identified in these three family members. The pathogenesis predictions from Mutation-Taster, Provean, and SIFT were “disease-causing,” “deleterious,” and “damaging,” respectively.</p> Conclusion <p>The novel c.1148&#xa0;T &gt; A (p.L383H) pathogenic mutation in the <i>SERPINC1</i> gene updated the gene mutation spectrum of hereditary antithrombin deficiency. Direct oral anticoagulation with rivaroxaban may be a more effective and selective anticoagulant in patients with hereditary antithrombin deficiency over warfarin or heparin.</p>

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The novel SERPINC1 missense mutation c.1148 T > A (p.L383H) causes hereditary antithrombin deficiency and thromboembolism in a Chinese family: a case report

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  • 发表日期：

    2025年3月6日

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  • Fangkai He,
  • Yang Wang,
  • Weiwei Ning,
  • Chao Liu,
  • Xiaojun Guan,
  • Yao Yao

摘要

Background

Hereditary antithrombin deficiency, an autosomal-dominant thrombotic disease caused by a SERPINC1 gene deficiency, is extremely rare, although it is the leading cause of hereditary thrombophilias. Herein we report a novel SERPINC1 gene mutation in a Chinese family and one case of pulmonary embolism associated with the mutation. We also discuss the latest diagnostic and treatment strategies for antithrombin deficiency.

Case presentation

The 33-year-old Chinese male proband had a pulmonary embolism and there was no evidence of thromboembolism in the other family members. In the pulmonary embolism case, treatment with nadroparin calcium combined with warfarin failed; however, rivaroxaban was effective. No emboli were evident in the follow-up computed tomography pulmonary angiography. Antithrombin activity fluctuated approximately 50% during hospitalization and follow-up. The antithrombin activity of the proband, his 58-year-old father, and his 5-year-old son was significantly low (44–48%). A novel missense variant c.1148 T > A (p.L383H) in the SERPINC1 gene was identified in these three family members. The pathogenesis predictions from Mutation-Taster, Provean, and SIFT were “disease-causing,” “deleterious,” and “damaging,” respectively.

Conclusion

The novel c.1148 T > A (p.L383H) pathogenic mutation in the SERPINC1 gene updated the gene mutation spectrum of hereditary antithrombin deficiency. Direct oral anticoagulation with rivaroxaban may be a more effective and selective anticoagulant in patients with hereditary antithrombin deficiency over warfarin or heparin.