Predisposition to thrombosis - standard

General information:

Includes:

• Mutation in the Prothrombin G20210A gene
• Mutation in Factor V Leiden gene
• Allele specificity of PAI - 1 4G / 5G
• Mutation-MTHFR C677T
   

Combination of genetic studies in patients with elevated homocysteine ​​levels, individual risk of thrombosis, young patients with cardiovascular disease, patients with close relatives with thrombosis, patients with pathological pregnancy.

The mutations in the Factor V Leiden and Prothrombin 20210 genes are associated with an increased tendency to thrombosis and embolism. They themselves are factors of coagulation status and are essential for the body. The reason is that the factor is not inactivated by protein C and differs from the normal Factor V with one amino acid in its composition. This is the most common mutation and cause of hereditary thrombophilia.

If a person is a carrier of Factor V Leiden, there is a high risk of: deep vein thrombosis (thrombus in a vessel), pulmonary thromboembolism (a thrombus in a high-mortal pulmonary vessel), pregnancy complications (spontaneous abortions, preeclampsia (high blood pressure during pregnancy) , detachment of the placenta.
Therefore, patients with this mutation wishing to become pregnant will require special follow-up.

The second mutation (Factor II; Prothrombin 20210 ) affects prothrombin, which supports the blood clotting process. The mutation causes excessive levels of prothrombin to be produced, leading to an increased tendency to clot. Patients can be homozygous and heterozygous, and the clinical picture is variable. Carriers of the mutation have a times higher risk of developing deep vein thrombosis.
If a patient is a carrier of a defective gene for prothrombin in combination with Factor V Laiden, the risk of thrombotic events is increased by 10-20 times.

The MTHFR gene is responsible for the synthesis of the methylenetetrahydrofolate reductase enzyme. Mutations in this gene cause a number of diseases such as homocystinuria, spina bifida, and anencephaly in the fetus. The enzyme is key in the metabolism of folate, B vitamins, the synthesis of many proteins. Patients with this mutation have a less active enzyme, which is associated with an increased risk of atherosclerosis, vascular problems, heart problems, stroke, several types of cancer, inflammatory bowel disease.
An association between prothrombin mutations and pregnancy complications, including recurrent miscarriages, has been established.

SAMPLE REQUIRED:

Venous blood

Key words:

Thrombosis, cardiovascular diseases, mutation