{
  "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.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Rehabilitation, Daping Hospital, Army Medical University, Chongqing, PR China",
    "Department of Critical Care Medicine, Daping Hospital, Army Medical University, Chongqing, PR China",
    "Department of Anesthesiology, Chongqing Red Cross Hospital, Chongqing, PR China"
  ],
  "article_type": "case report",
  "arxiv": null,
  "author_total": 6,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Xiangqin Fang"
    },
    {
      "affs": [
        1
      ],
      "name": "Zeyuan Li"
    },
    {
      "affs": [
        1
      ],
      "name": "Peng Zhou"
    },
    {
      "affs": [
        1
      ],
      "name": "Shili Zhong"
    },
    {
      "affs": [
        1
      ],
      "name": "Yuan Zhu"
    },
    {
      "affs": [
        2
      ],
      "name": "Ji Peng",
      "orcid": "0000-0002-0922-8787"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/9a6xw8vb23tk4.bib",
  "cited_by": 0,
  "doi": "10.1186/s12959-026-00906-0",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13732866/",
  "id": "9a6xw8vb23tk4",
  "issns": [
    "1477-9560"
  ],
  "landing_url": "https://doi.org/10.1186/s12959-026-00906-0",
  "language": "en",
  "licence": "CC-BY-NC-ND-4.0",
  "licence_label": "CC BY-NC-ND 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Case Report"
    ],
    [
      "openalex",
      "2724|Venous Thromboembolism Diagnosis and Management"
    ]
  ],
  "openalex": "W7196946492",
  "pdf_url": null,
  "pmcid": "PMC13732866",
  "pmid": "42983546",
  "published": "2026-08-07",
  "publisher": "BMC",
  "ris": "https://research.draconitic.com/paper/9a6xw8vb23tk4.ris",
  "sources": [
    {
      "first_seen": "2026-11-08T12:22:46Z",
      "native_id": "PMC13732866",
      "source": "pmc",
      "url": "https://doi.org/10.1186/s12959-026-00906-0"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2724|Venous Thromboembolism Diagnosis and Management",
      "subfield": "general"
    }
  ],
  "title": "SERPINC1-mediated hereditary antithrombin deficiency with refractory pulmonary embolism: successful treatment with VA-ECMO and interventional thrombus aspiration",
  "title_text": "SERPINC1-mediated hereditary antithrombin deficiency with refractory pulmonary embolism: successful treatment with VA-ECMO and interventional thrombus aspiration",
  "type": "peer-reviewed",
  "updated_at": "2026-11-08T12:22:46Z",
  "url": "https://research.draconitic.com/paper/9a6xw8vb23tk4",
  "venue": "Thrombosis Journal",
  "versions": []
}