Genetic thrombophilia profile

General Information

What is thrombophilia?
Thrombophilia is a condition in which there is an imbalance of natural proteins or blood clotting factors that can put a patient at risk of blood clotting. Blood clotting or coagulation is usually normal. This is the process that stops bleeding during various types of damage to blood vessels.
But if the clots don't dissolve, or if there is a tendency to form frequent clots, it can be a serious, life-threatening condition.
Blood clots can break off and travel through the bloodstream, putting people with thrombophilia at risk of developing deep vein thrombosis (DVT) or pulmonary embolism. Blood clots can also cause heart attacks and strokes. Thrombophilia can be genetic or acquired.

What are the causes of thrombophilia?
genetic types
Some diseases that cause thrombophilia are hereditary. Many of them are caused by changes in the number or function of proteins involved in clotting. For example, resistance to activated protein C (Factor V Leiden mutation), specific mutation of the prothrombin gene (prothrombin 20210 mutation), lack of protein C, protein S, or antithrombin – all of these proteins, important for blood clotting, stimulate the formation of fibrin. Hyperhomocysteinemia causes an increase in the amount of homocysteine, one of the amino acids, in the blood, which is why there is a high probability of blood clots in the veins and arteries.
purchased types
Other diseases that cause thrombophilia are acquired after birth. These include: disseminated intravascular coagulation (often associated with malignancy) and antiphospholipid antibody (anticardiolipin) syndrome (including the presence of lupus "anticoagulant"). These diseases increase the likelihood of clot formation due to abnormal activation of clotting factors.
An increase in the risk of clotting can be caused by other factors besides thrombophilia. Among them are such conditions, due to which a person cannot be physically active, which causes accumulation of blood in the veins. Examples include: paralysis, prolonged sitting (especially in one place, such as in a car or airplane), prolonged bed rest, recent surgery, and heart attack. Heart failure is also a risk factor, during which the speed of blood flow in blood vessels is reduced, as well as increased pressure on veins during obesity and pregnancy.

How is thrombophilia diagnosed?
Thrombophilia is diagnosed with a blood test. These tests can identify the condition, but may not always determine the cause
Genetic testing for thrombophilia should only be done under the guidance of a qualified genetic counselor.
• Patient history.
• Physical examination.
• Blood tests.
A PCR test for thrombophilia may include the following tests:
• Factor V Leiden mutation
• Coagulation factor II
• MTHFR gene mutation
• Prothrombin (factor II) mutation