{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T15:20:36Z","timestamp":1788967236165,"version":"build-2803163510"},"reference-count":5,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,2,28]],"date-time":"2024-02-28T00:00:00Z","timestamp":1709078400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,2,28]],"date-time":"2024-02-28T00:00:00Z","timestamp":1709078400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Lower limb deep vein thrombosis (DVT) concurrent with pulmonary embolism (PE) is perilous, particularly in the elderly, exhibiting heterogeneity with thrombophilia mutations. Tailored treatment is essential, yet sudden deaths complicate causative factor elucidation. This report emphasizes genetic testing necessity in PE patients with thrombophilia indicators, facilitating cause identification, personalized treatment guidance, and family education.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>This study details a 75-year-old Chinese woman with DVT and PE, where genetic testing identified thrombophilia, guiding personalized treatment decisions.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Upon admission, the patient, after over 10\u00a0days of bed rest, presented chest tightness, shortness of breath, and unilateral leg swelling. Diagnostic measures revealed DVT and a substantial PE. Genetic testing identified a <jats:italic>PROS1<\/jats:italic> gene C200A&gt;C mutation, reducing protein S activity. Following 2\u00a0weeks of anticoagulation and inferior vena cava filter insertion, the patient, discharged, initiated lifelong anticoagulant therapy. A 1-year follow-up showed no recurrent thrombotic events. Family members carrying the mutation received informed and educational interventions.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>Genetic testing for thrombophilic predisposition post-PE is crucial, elucidating etiology, guiding individualized treatment, and playing a pivotal role in family education.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13256-024-04396-4","type":"journal-article","created":{"date-parts":[[2024,2,28]],"date-time":"2024-02-28T01:02:03Z","timestamp":1709082123000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Lessons from an elderly patient with pulmonary embolism caused by protein S deficiency: a case report"],"prefix":"10.1186","volume":"18","author":[{"given":"Liu","family":"Qiang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Hong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shen","family":"Min","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wang","family":"Hongping","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chen","family":"Xian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Tianlang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,2,28]]},"reference":[{"key":"4396_CR1","doi-asserted-by":"publisher","first-page":"1579","DOI":"10.1016\/j.jacc.2022.08.721","volume":"80","author":"IT Farmakis","year":"2022","unstructured":"Farmakis IT, Valerio L, Bikdeli B, Connors JM, Giannakoulas G, Goldhaber SZ, Hobohm L, Hunt BJ, Keller K, Spyropoulos AC, Barco S. Annual mortality related to pulmonary embolism in the U.S. before and during the COVID-19 pandemic. J Am Coll Cardiol. 2022;80:1579\u201381.","journal-title":"J Am Coll Cardiol"},{"key":"4396_CR2","first-page":"422","volume":"19","author":"TA Morris","year":"2013","unstructured":"Morris TA. Why acute pulmonary embolism becomes chronic thromboembolic pulmonary hypertension: clinical and genetic insights. Curr Opin Pulm Med. 2013;19:422\u20139.","journal-title":"Curr Opin Pulm Med"},{"key":"4396_CR3","first-page":"54","volume":"2019","author":"SV Konstantinides","year":"2019","unstructured":"Konstantinides SV, Meyer G, Becattini C, Bueno H, Geersing GJ, Harjola VP, Huisman MV, Humbert M, Jennings CS, Jimenez D, et al. ESC Guidelines for the diagnosis and management of acute pulmonary embolism developed in collaboration with the European Respiratory Society (ERS): the Task Force for the diagnosis and management of acute pulmonary embolism of the European Society of Cardiology (ESC). Eur Respir J. 2019;2019:54.","journal-title":"Eur Respir J"},{"key":"4396_CR4","doi-asserted-by":"publisher","first-page":"449","DOI":"10.1055\/s-0038-1677031","volume":"119","author":"L Li","year":"2019","unstructured":"Li L, Wu X, Wu W, Ding Q, Cai X, Wang X. Clinical manifestation and mutation spectrum of 53 unrelated pedigrees with protein S deficiency in China. Thromb Haemost. 2019;119:449\u201360.","journal-title":"Thromb Haemost"},{"key":"4396_CR5","doi-asserted-by":"publisher","first-page":"397","DOI":"10.1016\/S1521-6934(03)00010-5","volume":"17","author":"GS Buchanan","year":"2003","unstructured":"Buchanan GS, Rodgers GM, Ware Branch D. The inherited thrombophilias: genetics, epidemiology, and laboratory evaluation. Best Pract Res Clin Obstet Gynaecol. 2003;17:397\u2013411.","journal-title":"Best Pract Res Clin Obstet Gynaecol"}],"container-title":["Journal of Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-024-04396-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13256-024-04396-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-024-04396-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,28]],"date-time":"2024-02-28T01:02:27Z","timestamp":1709082147000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmedicalcasereports.biomedcentral.com\/articles\/10.1186\/s13256-024-04396-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2,28]]},"references-count":5,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["4396"],"URL":"https:\/\/doi.org\/10.1186\/s13256-024-04396-4","relation":{},"ISSN":["1752-1947"],"issn-type":[{"value":"1752-1947","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,2,28]]},"assertion":[{"value":"23 August 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 January 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 February 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The case report has been submitted for Ethical Board Review and approved as ethically sound report.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"No potential conflict of interest relevant to this article was reported.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"77"}}