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The Mystery of Thrombosis from Ancient to Present: The Relationship between the History of Prothrombin G20210A Mutation and Modern Medicine?
Trump formation has always been a plaguing medical problem, and many of the cases are even related to genetic factors.A Prothrombin G20210A mutation is an example. This gene mutation makes some individuals respond faster to blood clotting and thus increases the risk of thrombosis.
Prothrombin G20210A mutation increases the risk of thrombosis among owners from 1 person per 1,000 to 2.5 people per 1,000, while the risk of two mutations can be as high as 20 person per 1,000.
The mutation began about 24,000 years ago and was found after the 1990s, especially among white people, with about 2% of people carrying this genetic variant.Mutations lead to an increase in prothrombin levels in plasma, which may be associated with increased stability of promRNA.This makes the person carrying the mutant present a hypercoagulant state, but the association with arterial thrombosis is not significant.
In a comprehensive analysis in 2006, the risk of this mutation on coronary heart disease was only 1.3 times higher.
For many people, most of them will not develop blood clots throughout their lives.Nevertheless, the Prothrombin G20210A mutation is considered an important genetic risk factor, especially in the case of venous thromboembolism.In addition, if you suffer from protein C or protein S deficiency, the risk of thrombosis will be further increased by five to tenfold.
People carrying this mutation can pass it on to their offspring and may therefore face a higher risk of deep venous thrombosis in some cases.In this case, pain and swelling can become common symptoms and can lead to the risk of post-thrombosis syndrome and even pulmonary embolism.Most carriers do not require treatment, but caution is still required in situations where the risk of thrombosis may increase, such as pregnancy, after surgery, or during long flights.
A 2005 study pointed out that when a carrier uses oral contraceptives, the risk of venous thromboembolism will increase to 15 times, and if it is accompanied by a mutation in factor V Leiden, the risk will reach about 20 times. .
However, a 2023 study concluded that the risk of carriers increased by 5.2 times, while the risk of people carrying both mutations was 6.35 times.Medical advice on arterial thrombosis is not recommended for adults who have developed venous thromboembolism, and testing is also not recommended for asymptomatic family members of the mutation.For people who have developed venous thromboembolism, the results of their associated thrombotic disease have little effect on the duration of treatment.
The mutation in Prothrombin G20210A is located in a non-coding region of the coagulation factor gene, so that the mutation can be easily detected through genetic testing and is not affected by other diseases or the use of anticoagulants.Similar to other patients with thrombosis, patients with this mutation also require anticoagulation, but routine anticoagulation is usually not recommended for patients who have not yet had a thrombosis event.
Many medical experts recommend that carriers should avoid oral contraceptives because this increases the risk of thrombosis, especially for individuals who already have high pre-baseline thrombin levels.
Based on the mentioned characteristics, the clinical treatment methods of Prothrombin G20210A will vary for different patients, and appropriate anticoagulants need to be determined based on the relevant medical history and possible risk factors.Whether using warfarin or taking direct oral anticoagulants, medical professionals need to choose according to the patient's condition.
Historically, the discovery of G20210A mutation has allowed us to better understand the causes of thrombosis and provides new perspectives for modern medical care.Will this mutation gain a more comprehensive understanding with the advancement of modern technology?
