Introduction: and importance: Protein C and S deficiency are some of the coagulation cascade disorders which may also contributes not only to venous thromboembolism (VTE), but also rarely to arterial thrombosis. Here we present a report of 3 severe coronary artery disease (CAD) cases ranging from very young to elderly patients with concomitant inherited thrombophilia.
Case Presentation: The first case was a chronic coronary syndrome from a very young male patient with history of VTE without any other risk factor of CAD. The second case was about premature CAD with triple chronic total occlusion (RCA, LCX, LAD) in patient under 45 years old, with single risk factor. The third case was about accelerated atherosclerosis progression from previously non significant stenosis in RCA into total occlusion in RCA and inferior STEMI in old patient on supposely adequate double anti platelet agent.
Clinical Discussion: All patients had protein C and/or S deficiency and first degree family history of VTE, therefore inherited thrombophilia was diagnosed. We gave them oral anticoagulant in addition to their standard treatment for secondary prevention with good outcome and without further adverse event.
Conclusion: It is important to raise awareness to perform screening inherited thrombophilia as an important risk factor for CAD in special subgroup such as young age patient with rapid course progression and family history of VTE. The use of oral anticoagulants as either prophylactic or therapeutic purpose in patients with inherited thrombophilia are safe and effective. However, further research is still needed.
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http://dx.doi.org/10.1016/j.amsu.2022.103730 | DOI Listing |
Lancet Haematol
January 2025
Department of Medicine, McGill University, Montreal, QC, Canada.
Background: Despite the morbidity and mortality of venous thromboembolism, there is little evidence to guide postpartum thromboprophylaxis in patients at moderate risk. We aimed to assess the feasibility of conducting a double-blind, randomised trial of aspirin versus placebo in postpartum individuals with two or more venous thromboembolism risk factors, mild-to-moderate thrombophilia, or both.
Methods: The pilot PARTUM trial, a multi-national, randomised, double-blind, placebo-controlled trial, was conducted in seven centres across Canada, France, Ireland, and the Netherlands.
Int J Fertil Steril
January 2025
Clinical Pathology Department, Faculty of Medicine, Assiut University, Assiut, Egypt.
Background: Unexplained recurrent miscarriage (RM) is still an unsolved reproductive health problem. Inherited thrombophilias have been one of the causes. Mutation in genes encoding coagulation proteins, including prothrombin (PT G20210A) and methylenetetrahydrofolate reductase (MTHFR) genes, increase tendency for venous thromboembolism.
View Article and Find Full Text PDFJ Thromb Haemost
January 2025
Department of Cardiovascular Diseases, University Hospitals Leuven, Leuven, Belgium; Center for Molecular and Vascular Biology, Department of Cardiovascular Sciences, KU Leuven, Leuven, Belgium.
Background: Conventional tests for inherited thrombophilia focus on the five most-established inherited thrombophilias; i.e. deficiencies in antithrombin, protein C, and protein S, and the factor V Leiden and prothrombin G20210A variants.
View Article and Find Full Text PDFThromb Res
January 2025
Department of Neurology, Fujian Institute of Geriatrics, Fujian Medical University Union Hospital, Fuzhou, Fujian, China. Electronic address:
Background: Protein S deficiency is a rare inherited disease. We report the case of a young man who unexpectedly developed isolated cortical vein thrombosis (ICoVT) associated with a novel PROS1 mutation.
Methods: Clinical symptoms were recorded, and physical examinations conducted.
In Vivo
December 2024
Faculty of Medicine and Pharmacy, University of Oradea, Oradea, Romania.
Background/aim: The incidence and characteristics of pediatric thrombotic events have become increasingly recognized, due to the enhanced utilization of advanced diagnostic techniques. Pediatric thrombosis remains less frequent than in adults, often manifesting in those with underlying congenital or acquired risk factors. This study aimed to establish epidemiological data on pediatric thrombotic events in Bihor County, Romania, highlighting the challenges of diagnosis in smaller medical centers and proposing a relevant diagnostic and treatment algorithm.
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