What Causes Thrombin Gene Mutation?

Hypercoagulopathy is a genetic or acquired blood disorder that promotes an increased risk of abnormal or excessive blood clots (blood clots). It is mainly caused by an increase in coagulation factors without a decrease in anticoagulation factors.

Hypercoagulability

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Hypercoagulopathy is a genetic or acquired blood disorder that promotes an increased risk of abnormal or excessive blood clots (blood clots). It is mainly caused by an increase in coagulation factors without a decrease in anticoagulation factors.

Western Medicine Name

Hypercoagulability

English name

Hypercoagulable states

Contagious

Non-contagious

Causes

Increased coagulation factor

Relieve symptoms

Taking aspirin

Hypercoagulable states

A smooth vessel wall is the basis for maintaining a constant blood flow. Anything that damages the vessel wall can increase the risk of the coagulation cascade (waterfall) response being activated. Although the coagulation activation disorder is not a true "hypercoagulation disorder", it can make the existing hypercoagulability state worse.

Vascular wall abnormalities (usually accompanied by abnormal blood clot formation). Atherosclerosis-Cholesterol-lipid-calcium is deposited on the arterial wall, reducing the smoothness of the blood vessel wall, and eventually forming plaques. After the plaques are ruptured, abnormal blood clots can cause stroke and heart attack. Vasculitis-Inflammation of the blood vessel wall may increase the risk of platelet adhesion and activation of coagulation factors. Healed vasculitis becomes a site that accelerates atherosclerosis. ^[1]

Certain genetic mutations can cause some people to be susceptible to hypercoagulability, such as factor Vleiden abnormalities or prothrombin G20210A mutations. Although relatively common in the population, they are thought to only slightly increase the risk of thrombosis. Other hereditary hypercoagulable disorders, such as protein C deficiency, protein S deficiency, and antithrombin III deficiency, are usually caused by a genetic mutation that results in a lack of coagulation protein or dysfunction in the expression of these genes. Genes for all hereditary diseases (except for antithrombin deficiency) have both heterozygotes (single gene involvement) and homozygotes (two gene involvement). If someone has a double-gene mutation, the condition becomes more severe, and heterozygotes that involve mutations at more than one site are more likely to form blood clots (sometimes multiplying the risk). The first thromboembolic attack of hereditary hypercoagulation is relatively young (under 40 years). These patients are prone to recurrent thrombosis, have a family history of thrombosis, and the location of the thrombus is special (such as cerebral vein, hepatic vein, and renal vein). ^[1]

Acquired hypercoagulability is more common than hereditary. They may be related to anti-phospholipid antibodies, and some tumors in patients with liver disease. Disseminated intravascular coagulation (DIC) is a life-threatening acute disease. Acquired microthrombus throughout the body, depletes clotting factors abnormally and rapidly, and induces both bleeding and coagulation. Several hypercoagulable disorders are described next. ^[1]

Venous stasis-also known as "Economy Class Syndrome", that is, a small seat during travel prevents people from moving in a certain position for a long time, or it is a prolonged period of bed rest caused by surgery, illness, etc. Causes slow or restricted blood flow and increases the risk of thrombosis, especially in the deep veins of the legs. ^[1]

Although it is fairly simple to prove that a patient has thrombosis, it takes a lot of time and effort to determine the cause. This is because many diagnostic tests are affected by recent thrombosis, and the anticoagulant treatment that patients receive also affects the test results. Physicians usually apply for a laboratory test while first treating the patient's existing thrombus. After a few weeks or months, when the doctor feels that the patient can stop the anticoagulation treatment, other laboratory tests will be performed to improve the assessment of the cause of thrombosis. Continuous dynamic laboratory tests are important to help determine the risk of a patient's thrombus recurrence. ^[1]

Blood clots often form deep venous thrombosis (DVT) in the lower extremities, which can cause pain and swelling. Blood clots can also form in the arteries and cause a heart attack. Embolism can also enter the brain and cause a stroke, and it can cause pulmonary embolism into the lungs, causing chest pain and shortness of breath. ^[1]

Doctors will reduce the risk of recurrent blood clots through treatment, including taking vitamin B 12 and folic acid to reduce homocysteine levels. Avoid contraceptives if you have other genetic or acquired risk factors Also avoid the conditions that cause blood stagnation. ^[1]

Regardless of the cause, the treatment of acute thrombosis is often very standardized. This usually includes short-term heparin anticoagulation (or more commonly low-molecular-weight heparin), followed by a combination of heparin and warfarin (coumarin), followed by warfarin for months or longer. During the treatment period, unfractionated heparin treatment was monitored with PTT, and warfarin treatment was monitored with the International Normalized Ratio (INR). After using warfarin for a few months, doctors will assess the risk of a thrombus recurrence. Doctors must weigh the risk of thrombosis against the risk of bleeding from continued anticoagulation. If you are at high risk of recurrent thrombosis, anticoagulation therapy may continue. If the risk is low, anticoagulation therapy does not have to be continued, but you need to be vigilant and return to the clinic as soon as the thrombosis symptoms return. ^[1]

Patients with continuous anticoagulation should plan in advance with the help of a doctor when they need traumatic procedures and surgery. The drug is usually stopped shortly before surgery. However, experts recommend that you do not need to stop taking warfarin during dental surgery. After surgery, most patients, including those who are not hypercoagulable, will receive a phase of prophylactic anticoagulation. The reason is that some operations, such as after knee replacement, or because of the operation itself, or because of inactivity during the recovery period after surgery, increase the risk of thrombosis. ^[1]

Pregnant and thrombotic patients usually receive subcutaneous injections of low-molecular-weight heparin for anticoagulant therapy. When anticoagulant therapy is not available for patients with antithrombin deficiency (for example during the perioperative period), antithrombin Replacement therapy is most effective; protein C concentrates are used to supplement protein C deficiency patients in stages, and in some cases, taking aspirin (which affects platelet function) is a good choice for them. ^[1]