Genetic Thrombophilia

The occurrence of thrombosis and embolism as a result of coagulation disorders can pose serious health problems. Often, genetic factors underlie these conditions, increasing the tendency for blood clotting. Genetic disorders causing inherited thrombophilia can often be inherited and affect a significant portion of the population.

Coagulation disorders can present with varying degrees of severity, ranging from complete asymptomatic cases to severe, life-threatening complications. The degree of genetic predisposition varies, with the most common causes including elevated homocysteine levels and various protein deficiencies that can lead to thrombosis. It is therefore important to understand what other factors, in addition to genetic ones, may contribute to these conditions and how they can be treated or prevented.

To prevent thrombosis and embolism, knowledge of family history is essential, as timely diagnosis and treatment can save lives.

The Most Common Inherited Thrombophilias

One of the most common genetic predispositions associated with thrombosis is the FV Leiden mutation, which occurs as a result of a point mutation in the gene coding for factor V, an important coagulation factor. This mutation is considered the most prevalent inherited thrombophilia and accounts for 40-50% of cases. In the heterozygous form, the risk of thrombosis increases fivefold, while in the homozygous form, this risk can be up to 50 times higher.

Another significant genetic disorder is the G20210A mutation of the prothrombin FII gene. This mutation leads to elevated prothrombin levels, which also increases the risk of thrombosis. In the heterozygous form, the risk of thrombosis is 2.5 times greater, while in the homozygous form, it can be as much as 25 times greater.

Antithrombin deficiency is a condition where thrombin, a protein involved in coagulation, is present at low levels in the body. This condition can certainly be inherited, but it can also be caused by various underlying diseases, such as liver or kidney diseases. Antithrombin deficiency is usually associated with severe thrombosis, which often leads to pulmonary embolism. Standard heparin therapy is often insufficient to prevent thrombosis, necessitating further diagnostic steps.

Protein C and S deficiencies also increase the risk of thrombosis. These proteins play a role in inhibiting coagulation, and their deficiency or malfunction results in severe thrombophilia. In the homozygous form, these deficiencies can be fatal even before birth, while in the heterozygous form, severe skin necrosis may occur when anticoagulant treatment is initiated.

Management and Prevention of Thrombosis

The foundation of thrombosis treatment lies in proper diagnosis and risk assessment. If a genetic predisposition exists, it is important for patients to be aware of their tendency toward thrombosis and to be under medical supervision if necessary. Treatment options include the use of anticoagulant medications that can help reduce the risk of thrombosis.

For prevention, patients should also pay attention to lifestyle factors such as a proper diet, regular exercise, and adequate fluid intake. A long-term sedentary lifestyle, such as during flights, can increase the risk of thrombosis, making it important to incorporate movement.

Knowledge of family history is vital, as proper information and early diagnosis can help prevent the progression of the disease. During medical consultations, the possibility of genetic testing may also arise, which can help assess the predisposition to thrombosis.

The issue of thrombosis and embolism requires serious attention, as prevention and early treatment can save lives. The medical community is continuously working to improve diagnostic and treatment options so that patients can receive the best possible care.