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Inherited Thrombophilia
Published in Vincenzo Berghella, Maternal-Fetal Evidence Based Guidelines, 2022
Antithrombin deficiency and dysfibrinogenemia, the first inherited thrombophilias to be described (1965), were discovered in studies of families in which several members were affected by venous thrombosis [1, 2]. Later, heterozygous deficiencies of protein C (PC) [3] and protein S (PS) [4] were identified as causes of inherited thrombophilia. In 1993, resistance to activated PC, the most common cause of inherited thrombophilia, was discovered [5, 6]. In most cases, it results from a mutation of the factor V gene (G1691A), resulting in an abnormal factor V protein, termed factor V Leiden (FVL) [7]. In 1996, the G20210A mutation of the prothrombin gene was found to be another cause of thrombophilia [8].
Degenerative Diseases of the Nervous System
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
James A. Mastrianni, Elizabeth A. Harris
As described in the section on AD. With suspicion for VaD, consider addition of the following: Lipid panel.Hemoglobin A1c.Antinuclear antibodies.Serum protein electrophoresis.Coagulation studies (younger patients).Antiphospholipid antibodies.Proteins C and S.Antithrombin III.Factor V Leiden mutation.
Long-Term Results in Patients Treated with Thrombolysis, Thoracic Inlet Decompression, and Subclavian Vein Stenting for Paget-Schroetter Syndrome
Published in Juan Carlos Jimenez, Samuel Eric Wilson, 50 Landmark Papers Every Vascular and Endovascular Surgeon Should Know, 2020
Juan Carlos Jimenez, Samuel Eric Wilson
Results In the veins treated with stents, 14 veins remained patent with a mean follow-up of 3–1/2 years. Two veins had early occlusions at 2 days; two veins occluded at 1 year; and seven veins occluded at 3 years. Of note, three of the patients including those who experienced early failures had factor V Leiden. Early failure was also demonstrated when clot extended into the brachial vein.
The association between thrombophilic genes alterations and poor ovarian response in infertile women: a retrospective case-control study
Published in Journal of Obstetrics and Gynaecology, 2022
Parnaz Borjian Boroujeni, Mohammad Reza Zamanian, Javad Roodgar Saffari, Anahita Mohseni Meybodi
As it was mentioned previously, specific mutation in the factor V gene causes factor V Leiden thrombophilia (G1691A). The FVL gene product plays a critical role in the coagulation system. The coagulation system is controlled by several proteins, including APC. APC normally inactivates coagulation factor V consequently slows down the clotting process and prevents clots from growing too large. However, in people with factor V Leiden thrombophilia, coagulation factor V cannot be inactivated normally by APC. As a result, the clotting process remains actively extended than usual, increasing the chance of developing abnormal blood clots (Dudding and Attia 2012). In 2005 Tempfer et al. studied 728 white women of Middle European origin and stated that the presence of at least one mutant allele of FVL was significantly associated with reduced age at natural menopause (p value= .03) (Tempfer et al. 2005). Their results revealed that genetically changed venous and arterial vascular support has long-lasting impacts on ovarian function.
Acute portal vein thrombosis in noncirrhotic patients – different prognoses based on presence of inflammatory markers: a long-term multicenter retrospective analysis
Published in Scandinavian Journal of Gastroenterology, 2019
Radan Keil, Jana Koželuhová, Jiří Dolina, Aleš Hep, Radek Kroupa, Vladimír Kojecký, Tomáš Krejčí, Jan Havlín, Ivana Hadačová, Jitka Segethová, Petra Koptová, Zdena Zádorová, Jan Matouš, Barbora Frýbová, Petr Chmátal, Martin Wasserbauer, Jan Šťovíček, Melvin Bae, Tolga Guven, Mahmood Zaeem, Štěpán Hlava
The biggest risk factors of PVT are early complications – gastrointestinal bleeding from fast forming portacaval collaterals and intestinal ischemia followed by infarction if extensive thrombus involves rapidly mesenteric venous arches [12,13]. Most patients had more than one procoagulant factor. Thus, the etiology of PVT is multifactorial [7,14]. Factor V Leiden mutation was found in only 15.4% of patients. This is similar to previous reports that factor V Leiden is more associated with deep vein thrombosis and less important in PVT [14,15]. Only two patients did not have a risk factor for PVT development during the first examination. Two patients (2.6%) developed hemato-oncologic disorders months after PVT. One did not initially have risk factors. One patient was diagnosed with myeloproliferation 6 months after PVT.
The relative roles of maternal survival and inter-personal violence as selection pressures on the persistence of Neanderthal hypercoagulability alleles in modern Europeans
Published in Annals of Human Biology, 2019
Ellen Ham, Simon J. Underdown, Charlotte J. Houldcroft
It is significant that rs3917862 has persisted, given that hypercoagulability has been shown to have negative health impacts, potentially detrimentally affecting reproductive fitness. For example, hypercoagulability leads to increased risk of clot formation. Clot formation, in turn, can lead to venous thromboembolism—pulmonary embolism and deep vein thrombosis (Heit 2007). Malfunction of F5, a mutation called Factor V Leiden, increases thrombophilia and is found in ∼20% of cases of venous thromboembolism (Rosendaal and Reitsma 2009). This mutation increases thrombophilia by causing amino acid substitution at one of the activated protein C cleavage sites of Factor V, rendering it resistant to activated protein C inactivation, and so leads to a reduction in the natural anticoagulant system, and enhances thrombin production (De Stefano and Leone 1995; Hooper and De Staercke 2002; Kyrle et al. 2010; Martinelli et al. 2010). Hypercoagulability, often used as a synonym for thrombophilia, increases the risk of venous thromboembolism. Increased risk of venous thromboembolism as a result of rs3917862 would, in turn, decrease the reproductive fitness of carriers of this SNP, as it affects humans before and during their reproductive years.