Venous thromboembolism is the leading cause of death in the ante-partum and post-partum period. The role of genetic thrombophilia in venous thrombosis has been analyzed in several studies, but the role of genetic thrombophilia in fetal loss, intra-uterine growth restriction and pre-eclampsia is much more controversial. While we can give some recommendations on thromboprophylaxis of venous thromboembolism, data concerning the usefulness of antithrombotic treatment in obstetric complications of genetic thrombophilia are lacking. When a laboratory work-up of thrombophilia is required, all the known causes of thrombophilia must be checked as none of them is specific of a single clinical feature, but also because they can be associated in the same patient.
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J 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.
Sci Rep
January 2025
Discovery3 Team, Department of Research and Early Development, GC Biopharma, 93, Ihyeon-ro 30Beon-gil, Giheung-gu, Yongin-si, Gyeonggi-do, South Korea.
Immune-mediated thrombotic thrombocytopenic purpura (iTTP) is a rare and life-threatening blood disorder characterized by the formation of blood clots in small blood vessels. It is caused by antibodies targeting the A disintegrin and metalloprotease with thrombospondin type 1 repeats, member 13 (ADAMTS13), which plays a role in cleaving von Willebrand factor. Most patients with iTTP have autoantibodies against specific domains of the ADAMTS13 protein, particularly the cysteine-rich and spacer domains.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Department of Obstetrics and Gynecology, "Victor Babeș" University of Medicine and Pharmacy, 300041 Timisoara, Romania.
Pregnancy complications associated with thrombophilia represent significant risks for maternal and fetal health, leading to adverse outcomes such as pre-eclampsia, recurrent pregnancy loss, and intra-uterine growth restriction (IUGR). They are caused by disruptions in key physiological processes, including the coagulation cascade, trophoblast invasion, angiogenesis, and immune control. Recent advancements in epigenetics have revealed that non-coding RNAs, especially microRNAs (miRNAs), long non-coding RNAs (lncRNAs), and extracellular vesicles (EVs) carrying these RNAs, play crucial roles in the regulation of these biological processes.
View Article and Find Full Text PDFIt is critical to recognize pulmonary embolism as soon as possible in patients who have gastrointestinal problems pre- and post-surgery. Even in the absence of conventional risk factors, the Factor V Leiden mutation emphasizes the importance of a thorough thrombophilia assessment. To effectively manage and prevent thrombotic episodes, prompt anticoagulant medication and genetic screening for family members are essential.
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