The G20210A Mutation of the Prothrombin Gene in Patients with Previous First Episodes of Deep-Vein Thrombosis

1999 ◽  
Vol 93 (1) ◽  
pp. 1-8 ◽  
Author(s):  
Marco Cattaneo ◽  
Veena Chantarangkul ◽  
Emanuela Taioli ◽  
José Hermida Santos ◽  
Liliana Tagliabue
1999 ◽  
Vol 19 (3) ◽  
pp. 700-703 ◽  
Author(s):  
Ida Martinelli ◽  
Emanuela Taioli ◽  
Paolo Bucciarelli ◽  
Sepideh Akhavan ◽  
Pier Mannuccio Mannucci

2017 ◽  
Vol 2017 ◽  
pp. 1-4
Author(s):  
Fares Darawshy ◽  
Yosef Kalish ◽  
Issam Hendi ◽  
Ayman Abu Rmelieh ◽  
Tawfik Khoury

Deep vein thrombosis (DVT) is a rare disease in patients with hemophilia A. We report a case of 22-year-old male with severe hemophilia A who presented to the emergency room with 5-day history of right arm pain that was attributed initially to bleeding event. In the absence of external signs of bleeding or hematoma and normal hemoglobin level, we suspected an underlying DVT. Doppler ultrasonography of the right upper limb revealed thrombosis of the subclavian vein and this was confirmed by CT venography. The d-dimer level was normal and investigations for prothrombotic state revealed heterozygosity for prothrombin G20210A mutation. Treatment with factor VIII and low molecular weight heparin led to successful resolution and marked improvement of his clinical condition.


2004 ◽  
Vol 51 (2) ◽  
pp. 177-183 ◽  
Author(s):  
Mauro Silingardi ◽  
Carlo Salvarani ◽  
Luigi Boiardi ◽  
Pietro Accardo ◽  
Alfonso Iorio ◽  
...  

2014 ◽  
pp. 159-166 ◽  
Author(s):  
Silvia Izquierdo Álvarez ◽  
Eva Barrio Ollero ◽  
Francisco Miguel Llinares Sanjuan ◽  
Fabiola Lorente Martínez ◽  
María Teresa Calvo Martín

2021 ◽  
Author(s):  
Luz Casique-Bocanegra ◽  
Aranzazu Rodríguez-Garrote ◽  
Gaisha Danabayeva ◽  
Javier Alonso-Díaz ◽  
Noelia Diez-Martín ◽  
...  

Abstract Venous thromboembolic disease is a complex and multifactorial pathology, the result of the interaction of both genetic and environmental factors. The Virchow triad, first described in 1859, is still valid to explain the pathogenesis of thrombosis, where three main factors are reflected: a) hypercoagulable state; b) impaired blood flow; c) endothelial injury. The outbreak of a new COVID-19 pandemic has led to drastic confinement measures, with the consequent syndrome of immobility, as occurred in Spain between the months of March to June 2020. Pregnancy and hormonal contraception have proven to be an environmental factor predisposing to venous thrombosis. The presence of genetic factors, such as the mutation of the prothrombin gene G20210A, has been shown to be a risk factor for the presentation of venous thrombosis. We present the case of a 23-year-old non-smoking woman, a heterozygous carrier of a prothrombin gene mutation G20210A (hypercoagulability), who after confinement due to COVID-19 (impaired blood flow due to immobility) and use of hormonal patch contraceptives (endothelial abnormality), triggered deep vein thrombosis (DVT) / pulmonary thromboembolism (PE) that required hospital admission; and who, after rapid withdrawal of anticoagulant treatment, presented a second and a third episode of DVT. We highlight the usefulness of evaluating risk factors in G20210A heterozygous patients and the proper management of anticoagulation to avoid recurrences in patients susceptible to DVT / PE.


2021 ◽  
Author(s):  
Luz Casique-Bocanegra ◽  
Aranzazu Rodríguez-Garrote ◽  
Gaisha Danabayeva ◽  
Javier Alonso-Díaz ◽  
Noelia Diez-Martín ◽  
...  

Abstract Venous thromboembolic disease is a complex and multifactorial pathology, the result of the interaction of both genetic and environmental factors. The Virchow triad, first described in 1859, is still valid to explain the pathogenesis of thrombosis, where three main factors are reflected: a) hypercoagulable state; b) impaired blood flow; c) endothelial injury. The outbreak of a new COVID-19 pandemic has led to drastic confinement measures, with the consequent syndrome of immobility, as occurred in Spain between the months of March to June 2020. Pregnancy and hormonal contraception have proven to be an environmental factor predisposing to venous thrombosis. The presence of genetic factors, such as the mutation of the prothrombin gene G20210A, has been shown to be a risk factor for the presentation of venous thrombosis. We present the case of a 23-year-old non-smoking woman, a heterozygous carrier of a prothrombin gene mutation G20210A (hypercoagulability), who after confinement due to COVID-19 (impaired blood flow due to immobility) and use of hormonal patch contraceptives (endothelial abnormality), triggered deep vein thrombosis (DVT) / pulmonary thromboembolism (PE) that required hospital admission; and who, after rapid withdrawal of anticoagulant treatment, presented a second and a third episode of DVT. We highlight the usefulness of evaluating risk factors in G20210A heterozygous patients and the proper management of anticoagulation to avoid recurrences in patients susceptible to DVT / PE.


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