SERPINC1-mediated hereditary antithrombin deficiency with refractory pulmonary embolism: successful treatment with VA-ECMO and interventional thrombus aspiration
- 1Department of Rehabilitation, Daping Hospital, Army Medical University, Chongqing, PR China
- 2Department of Critical Care Medicine, Daping Hospital, Army Medical University, Chongqing, PR China
- 3Department of Anesthesiology, Chongqing Red Cross Hospital, Chongqing, PR China
Abstract
Venous thromboembolism (VTE) carries substantial global morbidity and mortality, with 50%–60% of disease variability attributed to genetic factors. Hereditary antithrombin deficiency (HATD), caused by pathogenic variants in the SERPINC1 gene, is an autosomal dominant thrombophilia that confers a 20–40-fold higher risk of VTE, predominantly manifesting as recurrent pulmonary embolism (PE) and deep vein thrombosis (DVT). We report a 22-year-old male with recurrent PE secondary to type II HATD driven by a heterozygous SERPINC1 missense variant (c.1315 C > A, p.Pro439Thr). His second episode of PE progressed to obstructive cardiogenic shock refractory to systemic thrombolysis, accompanied by hemoptysis. Veno-arterial extracorporeal membrane oxygenation (VA-ECMO) was initiated, yet recurrent oxygenator thrombosis occurred despite high-dose unfractionated heparin (UFH) infusion. Laboratory testing revealed an antithrombin III (AT-III) activity level of 39.5%, confirming the diagnosis. Pulmonary angiography followed by mechanical thrombus aspiration was performed, and long-term anticoagulation was switched to rivaroxaban. The patient was successfully weaned from VA-ECMO, with no PE recurrence or adverse cardiovascular events recorded during 5 years of follow-up. This case represents the first published report of a young patient with a SERPINC1 variant complicated by recurrent high-risk PE unresponsive to rt-PA thrombolysis who survived after VA-ECMO-supported pulmonary thrombus aspiration. Early etiological genetic screening for hereditary thrombophilia is essential for managing refractory PE induced by SERPINC1 variants. Individualized regimens combining VA-ECMO, interventional thrombectomy, and direct oral anticoagulants (DOACs) yield favorable clinical outcomes and provide a reference for managing critically ill patients with hereditary thrombophilia.
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BibTeX
@article{fang2026serpinc1mediated,
title = {{SERPINC1-mediated hereditary antithrombin deficiency with refractory pulmonary embolism: successful treatment with VA-ECMO and interventional thrombus aspiration}},
author = {Xiangqin Fang and Zeyuan Li and Peng Zhou and Shili Zhong and Yuan Zhu and Ji Peng},
journal = {Thrombosis Journal},
year = {2026},
month = aug,
doi = {10.1186/s12959-026-00906-0},
url = {https://doi.org/10.1186/s12959-026-00906-0},
note = {CC BY-NC-ND 4.0},
}
RIS
TY - JOUR
TI - SERPINC1-mediated hereditary antithrombin deficiency with refractory pulmonary embolism: successful treatment with VA-ECMO and interventional thrombus aspiration
AU - Xiangqin Fang
AU - Zeyuan Li
AU - Peng Zhou
AU - Shili Zhong
AU - Yuan Zhu
AU - Ji Peng
PY - 2026
DA - 2026/08/07
JO - Thrombosis Journal
DO - 10.1186/s12959-026-00906-0
UR - https://doi.org/10.1186/s12959-026-00906-0
AB - Venous thromboembolism (VTE) carries substantial global morbidity and mortality, with 50%–60% of disease variability attributed to genetic factors. Hereditary antithrombin deficiency (HATD), caused by pathogenic variants in the SERPINC1 gene, is an autosomal dominant thrombophilia that confers a 20–40-fold higher risk of VTE, predominantly manifesting as recurrent pulmonary embolism (PE) and deep vein thrombosis (DVT). We report a 22-year-old male with recurrent PE secondary to type II HATD driven by a heterozygous SERPINC1 missense variant (c.1315 C > A, p.Pro439Thr). His second episode of PE progressed to obstructive cardiogenic shock refractory to systemic thrombolysis, accompanied by hemoptysis. Veno-arterial extracorporeal membrane oxygenation (VA-ECMO) was initiated, yet recurrent oxygenator thrombosis occurred despite high-dose unfractionated heparin (UFH) infusion. Laboratory testing revealed an antithrombin III (AT-III) activity level of 39.5%, confirming the diagnosis. Pulmonary angiography followed by mechanical thrombus aspiration was performed, and long-term anticoagulation was switched to rivaroxaban. The patient was successfully weaned from VA-ECMO, with no PE recurrence or adverse cardiovascular events recorded during 5 years of follow-up. This case represents the first published report of a young patient with a SERPINC1 variant complicated by recurrent high-risk PE unresponsive to rt-PA thrombolysis who survived after VA-ECMO-supported pulmonary thrombus aspiration. Early etiological genetic screening for hereditary thrombophilia is essential for managing refractory PE induced by SERPINC1 variants. Individualized regimens combining VA-ECMO, interventional thrombectomy, and direct oral anticoagulants (DOACs) yield favorable clinical outcomes and provide a reference for managing critically ill patients with hereditary thrombophilia.
SN - 1477-9560
ER -