I. The concept of thrombophilia.
In 1965, Eegberg used the term “thrombophilia” when reporting on a Norwegian family with a tendency to thrombosis, and since then the term has been widely used for patients with a tendency to thrombosis. Thrombophilia is defined artificially as a disease or condition that predisposes to thromboembolism due to inherited or acquired defects or the presence of acquired risk factors for anticoagulant proteins, coagulation factors, fibrin, etc. Thrombosis is one of the most common clinical diseases and causes of death. According to statistics, the annual mortality rate from thrombotic disease in the United States is four times higher than that from malignancy.
Thrombotic events can occur in all corners of the clinic, including lower extremity deep vein thrombosis from various causes, pulmonary thromboembolism, myocardial infarction, cerebral infarction, placental microthrombosis, retinal thrombosis, etc., which seriously threaten the health of patients and add a huge economic burden to them.
Second, the factors that induce thrombosis
The predisposing factors of thrombosis include hereditary factors and acquired factors.
2.1 Genetic factors
Activated protein C resistance and FVL mutation.
Mutation of prothrombin gene G20210A.
Fibrinogen activator inhibitor-1 gene polymorphism.
Hyperhomocysteinemia.
Protein C Protein S deficiency.
Thrombin deficiency or reduced activity.
Fibrinogen gene mutations.
2.2 Acquired factors
Antiphospholipid syndrome (APLS).
Nephrotic syndrome.
Paroxysmal sleep hemoglobinuria.
Myeloproliferative disorders.
Malignancy.
Severe infections.
Surgery.
Trauma.
Advanced age.
Pregnancy.
Oral contraceptive use.
The risk of venous thrombosis for each acquired thrombophilia factor varies. Usually, the presence of only one thrombophilia risk factor does not cause thrombosis, but the risk of thrombosis increases significantly when multiple thrombophilia risk factors coexist.
Prevention of thrombosis in thrombosis-prone patients
People with a history of thromboembolism can consider prophylactic anticoagulation therapy if they are prone to thrombosis such as surgery, trauma, pregnancy, and long-term bed rest. For people who have thrombophilia without clinical manifestations but have thrombosis in their family, preventive anticoagulation therapy can be considered when they are in a state prone to thrombosis.