There is an increased risk of venous thrombosis in women with inherited plasma protein coagulopathies (thrombophilias). Although a general screening for thrombophilia is impractical, risk assessment based on identification of other hypercoagulable states-such as a personal or family history of venous thrombosis-can identify patients who may benefit from testing. Those patients testing positive for thrombophilia need to be counseled regarding the implications of oral contraceptive use, hormone replacement therapy, use of selective estrogen receptor modulators, and pregnancy.
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http://dx.doi.org/10.1016/s1068-607x(00)00024-x | DOI Listing |
Blood
January 2025
KULeuven, Leuven, Belgium.
Thrombomodulin (TM) expressed on endothelial cells regulates coagulation. Specific nonsense variants in the TM gene, THBD, result in high soluble TM levels causing rare bleeding disorder. In contrast, though THBD variants have been associated with venous thromboembolism, this association remains controversial.
View Article and Find Full Text PDFHemophilia A is a clotting disorder due to factor VIII deficiency, leading to prolonged bleeding. Acquired hemophilia A results from the immune system attacking factor VIII, typically occurring later in life. Factor V Leiden is a genetic mutation causing abnormal blood clot formation, primarily in veins.
View Article and Find Full Text PDFThromb Res
February 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.
QJM
January 2025
Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, 510010, China.
Background: ALG8-congenital disorder of glycosylation (ALG8-CDG) is a rare inherited metabolic disorder leading to severe multisystem manifestations, with no reported prenatal patients to date.
Methods: We describe two fetuses from a single family with ALG8-CDG presenting with prenatal hydrops, undergoing comprehensive prenatal ultrasound, umbilical cord blood biochemistry, autopsy, placental pathology, and genetic testing.
Results: Prenatal ultrasound revealed fetal hydrops, skeletal anomalies, cardiac developmental abnormalities, cataracts, echogenic kidneys and bowel, oligohydramnios, choroid plexus cysts, and intrauterine growth restriction.
Background: When using electronic health records (EHRs) to conduct population-based studies on inherited bleeding disorders (IBDs), using diagnosis codes alone results in a high number of false positive identifications.
Objective: The objective of this study was to develop and validate an algorithm that uses multiple data elements of EHRs to identify pregnant women with IBDs.
Methods: The population included pregnant women who had at least one live birth or fetal death (>20 weeks gestation) at our institution from 2016 to 2023.
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