Venous Thromboembolism: Genetics and Thrombophilias

2021 ◽  
Vol 42 (02) ◽  
pp. 271-283
Author(s):  
Manila Gaddh ◽  
Rachel P. Rosovsky

AbstractVenous thromboembolism (VTE) is a major cause of morbidity and mortality throughout the world. Up to one half of patients who present with VTE will have an underlying thrombophilic defect. This knowledge has led to a widespread practice of testing for such defects in patients who develop VTE. However, identifying a hereditary thrombophilia by itself does not necessarily change outcomes or dictate therapy. Furthermore, family history of VTE by itself can increase an asymptomatic person's VTE risk several-fold, independent of detecting a known inherited thrombophilia. In this article, we will describe the current validated hereditary thrombophilias including their history, prevalence, and association with VTE. With a focus on evaluating both risks and benefits of testing, we will also explore the controversies of why, who, and when to test as well as discuss contemporary societal guidelines. Lastly, we will share how these tests have been integrated into clinical practice and how to best utilize them in the future.

2016 ◽  
Vol 115 (01) ◽  
pp. 135-142 ◽  
Author(s):  
Agathe Henneuse ◽  
Manal Ibrahim ◽  
Dominique Brunet ◽  
Marie-Christine Barthet ◽  
Marie-Françoise Aillaud ◽  
...  

SummaryIdentifying women at risk of venous thromboembolism (VTE) is a major public health issue. The objective of this study was to identify environmental and genetic determinants of VTE risk in a large sample of women under combined oral contraceptives (COC). A total of 968 women who had had one event of VTE during COC use were compared to 874 women under COC but with no personal history of VTE. Clinical data were collected and a systematic thrombophilia screening was performed together with ABO blood group assessment. After adjusting for age, family history, and type and duration of COC use, main environmental determinants of VTE were smoking (odds ratio [OR] =1.65, 95 % confidence interval [1.30–2.10]) and a body mass index higher than 35 kg.m-2 (OR=3.46 [1.81–7.03]). In addition, severe inherited thrombophilia (OR=2.13 [1.32–3.51]) and non-O blood groups (OR=1.98 [1.57–2.49]) were strong genetic risk factors for VTE. Family history poorly predicted thrombophilia as its prevalence was similar in patients with or without first degree family history of VTE (29.3 % vs 23.9 %, p=0.09). In conclusion, this study confirms the influence of smoking and obesity and shows for the first time the impact of ABO blood group on the risk of VTE in women under COC. It also confirms the inaccuracy of the family history of VTE to detect inherited thrombophilia.


2013 ◽  
Vol 110 (10) ◽  
pp. 697-705 ◽  
Author(s):  
Elena Rossi ◽  
Valerio De Stefano

SummaryThe clinical penetrance of venous thromboembolism (VTE) susceptibility genes is variable, being lower in heterozygous carriers of factor V Leiden and prothrombin 20210A (mild thrombophilia), and higher in the rare carriers of deficiencies of antithrombin, protein C or S, and those with multiple or homozygous abnormalities (high-risk thrombophilia). The absolute risk of VTE is low, and the utility of laboratory investigation for inherited thrombophilia in patients with VTE and their asymptomatic relatives has been largely debated, leading to the production of several Guidelines from Scientific Societies and Working Groups. The risk for VTE largely depends on the family history of VTE. Therefore, indiscriminate search for carriers is of no utility, and targeted screening is potentially more fruitful. In patients with VTE inherited thrombophilia is not scored as a determinant of recurrence, playing a minor role in the decision of prolonging anticoagulation; indeed, a few guidelines consider testing worthwhile to identify carriers of high-risk thrombophilia, particularly those with a family history of VTE. The identification of the asymptomatic carrier relatives of the probands with VTE and thrombophilia could reduce cases of provoked VTE, offering them primary antithrombotic prophylaxis during risk situations. In most guidelines, this is considered justified only for relatives of probands with a deficiency of natural anticoagulants or multiple abnormalities. Counselling the asymptomatic female relatives of individuals with VTE and/or thrombophilia before pregnancy or the prescription of hormonal treatments should be administered with consideration of the risk driven by the type of thrombophilia and the family history of VTE.


2021 ◽  
Vol 6 (14) ◽  
pp. 56-67
Author(s):  
Arslan Say ◽  
Abdülkadir ÇAKMAK ◽  
Gökhan KESKİN ◽  
Erdinç PELİT ◽  
Yılmaz ÖZBAY

Aim: New generation anticoagulants rapidly find a wider area of use in the clinic due to the use problems of other oral anticoagulants. Anticoagulants such as Dabigatran, Rivaroxaban, and Apixaban with safer treatment intervals have been accepted in clinical practice guidelines and have taken their place as preferred drugs. In this study, we aimed to retrospectively examine the effects of three new-generation anticoagulant drugs on a group of patients. Material and Methods: In this retrospectively planned study, patients diagnosed with atrial fibrillation (n = 522) were divided into three groups according to the drugs used for treatment (Dabigatran, Rivaroxaban, and Apixaban). Routine blood values of the patients in each group were retrospectively scanned according to age, gender, time of drug initiation and presence of chronic disease. Results: According to the results obtained, it was found that the mean HCT, BUN, AST, ALT, MPV, Iron, and Ferritin were higher in patients using Apixaban than those using Dabigatran and Rivaroxaban drugs, but the age, average values of Hgb1 Hgb2, Hgb1, PLT, CrCl, Gfr and INR of the patients using Apixaban lower than those using Dabigatran and Rivaroxaban. The highest rate (22.5%) was found in the group of patients taking apixaban (n=93) when people taking the drugs were examined in terms of mortality. Conclusion: It has been observed that Rivaroxaban can be used more safely in patients with a history of acute cancer and thrombosis, patients with recurrent venous thromboembolism, and patients with high frailty, three drugs should be preferred instead of oral anticoagulants.


2020 ◽  
Vol 65 ◽  
pp. 323-334
Author(s):  
Inga V. Zheltikova

The concept of O. Spengler suggests that the history of any culture goes through certain stages of development, the last of which is civilization. During this period creative activity in culture is replaced by mechanical imitation and lost connection with the culture formed by the «pra-phenomenon». The author correlates Spengler’s postulates with the processes of actual social reality and comes to the conclusion that contemporary Russia is going through the stage of civilization. The article raises the question of how the future is seen in this situation. The author uses the term “image of the future”, introduced by F. Polak to understand the disinterest of modern post-war Europe in its future. Thus, the lack of interest in the future can be recognized as another characteristic of the state of civilization. The existence in contemporary Russia of distinct images of the future is an open question. Using the methods of content analysis, the author comes to the conclusion that in Russian contemporary society there exists a retrospective image of the future, focused on conservative values, hierarchy of society and its closed nature to the world. Thus, it is concluded that it is wrong to talk about complete absence of images of the future in contemporary Russia. But the nature and content of these images demonstrate the low level of interest in the future, which also indicates the transition of Russian culture to civilization.


2019 ◽  
Vol 173 ◽  
pp. 91-95
Author(s):  
Anna Hau ◽  
Eric Wegener ◽  
Vera Ignjatovic ◽  
Shoshana Revel-Vilk ◽  
Paul Monagle

2018 ◽  
Vol 36 (9) ◽  
pp. 1550-1554 ◽  
Author(s):  
Christopher Kelly ◽  
Chad Agy ◽  
Margaret Carlson ◽  
Jacob Steenblik ◽  
Joseph Bledsoe ◽  
...  

Author(s):  
Martin Eisner

This study uses the material transmission history of Dante’s innovative first book, the Vita nuova (New Life), to intervene in recent debates about literary history, reconceiving the relationship between the work and its reception, and investigating how different material manifestations and transformations in manuscripts, printed books, translations, and adaptations participate in the work. Just as Dante frames his collection of thirty-one poems surrounded by prose narrative and commentary as an attempt to understand his own experiences through the experimental form of the book, so later scribes, editors, and translators use different material forms to embody their own interpretations of it. Traveling from Boccaccio’s Florence to contemporary Hollywood with stops in Emerson’s Cambridge, Rossetti’s London, Nerval’s Paris, Mandelstam’s Russia, De Campos’s Brazil, and Pamuk’s Istanbul, this study builds on extensive archival research to show how Dante’s strange poetic forms continue to challenge readers. In contrast to a conventional reception history’s chronological march, each chapter analyzes how one of these distinctive features has been treated over time, offering new perspectives on topics such as Dante’s love of Beatrice, his relationship with Guido Cavalcanti, and his attraction to another woman, while highlighting Dante’s concern with the future, as he experiments with new ways to keep Beatrice alive for later readers. Deploying numerous illustrations to show the entanglement of the work’s poetic form and its material survival, Dante’s New Life of the Book offers a fresh reading of Dante’s innovations, demonstrating the value of this philological analysis of the work’s survival in the world.


2021 ◽  
Vol 2 (01) ◽  
pp. 87-108
Author(s):  
Santosa Santosa

Looking at the historical flow of Islamic development in Indonesia as such, the author took an analysis that the future prospects of Islam in Indonesia have a great opportunity to continue to develop, be it in the fields of politics, economics, education, social, and culture. This can be seen from the history of Islam in Indonesia that continues to develop until now, this is the early stage of the emergence of awareness of the Indonesian nation of the importance of planting religious values in Indonesian society so that the Indonesian nation can meet the future not only with science and technology but also in the balance by IMTAQ.  The era of globalization in the 21st century that has begun at this time, Islam in Indonesia has apparently exerted a huge influence on the advancement of Islam in the world. Although the existence of Islam today is really faced with a fairly severe challenge that requires the involvement of various parties concerned. With regard to this, strategic efforts need to be made, among others: by providing knowledge, skills, and piety in all fields (religious, political, economic, social, cultural, educational) so as to give birth to creative, innovative, independent and productive people considering the world to come is a competitive world. Keywords: Islam, The Future, Indonesia


Author(s):  
Hakan Ay ◽  
Öznur Uçar

Examine the history of Turkey's economic crisis based economy will give clues for a much better economy. For 92 years, history of Turkey Republic has experienced the development stages of democracy and economy. Turkey has completed the journey of economic development as the most advanced economy in the world, although began as an undeveloped country. Turkey has been affected from the global and regional crises and overcame the nine economic crises. The implemented economic crisis policies showed parallelism with the trend of the world economic thoughts and has been shaped around Keynes and Friedman applications. All these details have been described in our study chronologically. With our study, we were trying to portray the Turkish economy's yesterday and today. Thus, we believe that our study will create data for predicting the future of the Turkish economy and the future of the world of economy.


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