Dubai Hematology Clinic
Thrombotic tendencies (Thrombophilia)
- As the name implies, thrombotic tendencies mean that blood has increased tendency to form clots, it is also called thrombophilia.
- The most common sites of blood clots are large veins in the leg (deep vein thrombosis) or one of the arteries supplying the lung (Pulmonary embolism).
How blood clotting is affected by thrombophilia?
- In order to understand how thrombophilia affects blood clotting, you need first to understand the mechanism of clotting. When there is an injury to a blood vessel, the platelets which are small cells circulating in the blood attach to the damaged vessel wall to form a clot (plug).
- The clotting factors which are proteins in the blood cause strands called fibrin to form around the plug to form an even stronger blood clot.
- Thrombophilia is caused by either having too much clotting factor or too little of the substance that opposes clotting factor.
What are the symptoms of thrombophilia?
- Thrombophilia isn’t usually associated with any symptoms unless you have a blood clot.
What are the symptoms of blood clots?
Blood clots can affect both the veins and arteries. The arteries take blood from the heart to the rest of the body, and the veins bring blood back to the heart. The most common symptons of DVT are :
- Swelling and pain in the affected leg (usually in the calf)
- Warmness of the skin over the clot area
- Redness in the back of the leg just below the knee
Part of the blood clot sometimes travel away to the lung through the heart causing a pulmonary embolism.
Pulmonary embolism usually present with:
- Chest pain
- Difficulty breathing
- Dry cough or haemoptysis (coughing up blood)
How do we diagnose thrombophilia?
- Thrombophilia is usually diagnosed through a blood test in patients who are suspected to have thrombotic tendency (those who have recurrent or unprovoked blood clots)
Types of thrombophilia
- Factor V Leiden
- Factor V Leiden is the most common type of inherited thrombophilia. It is commonly seen in White Europeans and Americans.
- This gene affects factor V which is part of the clotting pathway, this would further prolong the coagulation process, and consequently increase the risk of a venous thrombosis by eight times. Some people inherit one gene from each parent (homozygous factor V leiden). This would make the risk of venous thrombosis around eight times the normal risk.
- Prothrombin 20210
- Patients with Prothrombin gene mutation have a change in their prothrombin clotting factor which makes the blood clot more easily. Prothrombin gene mutation increases the risk of having a blood clot to twice the normal risk.
- Protein C, Protein S, and antithrombin deficiency
- Protein C, Protein S and antithrombin are natural anticoagulants. Low levels of these anticoagulants are associated with increased risk of venous thrombosis.
- Dysfibrinogenaemia is caused by the abnormal function of the clot-dissolving chemical fibrinogen. And will result in increased clotting, increased bleeding or both.
- Acquired Thrombophilias
- Antiphospholipid syndrome (APS)
- Caused by antiphospholipid antibodies, these causes a blood clot to form in arteries and veins. It may also cause miscarriage, pre-eclampsia, or growth restriction of the fetus.
- This is usually due to raised level of homocysteine in the blood, which increases the risk of arterial and venous blood clots
- Paroxysmal nocturnal haemoglobinuria (PNH)
- PNH can cause venous blood clots in unusual sites such as the veins of the gut, liver or brain
- Elevated factor VIII
- As the name implies, this is due to high levels of factor VIII, which usually promotes clotting, the higher the factor VIII level, the higher the risk of blood clot.
Treatment of Thrombophilia
Treatment of thrombophilia depends on the risk for developing a blood clot. And the risk is usually calculated based on the following criteria:
- Type of thrombophilia
- Age, weight, other medical conditions
- If there is a previous history of blood clot
- If any close relative has had a blood clot.
- If the patient is pregnant or has recently given birth.
Possible treatments for thrombophilia are:
- Low dose aspirin
- Aspirin prevents blood clots by inhibiting the function of platelets.
- Anticoagulant treatment
- The most commonly used anticoagulants are heparin and warfarin. They are used to treat or prevent DVT and pulmonary embolism.
- Heparin is given by injection, while warfarin is taken as a tablet medication.
- Other oral anticoagulants include: Rivaroxaban, apixaban, dabigatran. Warfarin is the usual anticoagulant, however, it takes few days to work, while heparin works straightaway. And therefore heparin is used alongside warfarin in the first few days (between 3-5 days) .
Both Heparin and warfarin are safe to use while breastfeeding, however, unlike heparin, Warfarin isn’t safe to take in pregnancy.
- Patients with thrombophilia are strongly advised to lose weight if they are overweight, stop smoking, exercise regularly, and avoid being immobile for long periods.
Dubai Hematology Clinic at Dr Rami Hamed Center now provides treatment for Hematology, Leukemia, Thrombophilia, Chemotherapy, Lymphoma, Anemia and so on by an expert Hematologist .