A genetic (inherited) thrombophilia means you have a problem with the proteins that control blood clotting. Some of these issues can increase the risk of a clot in the lungs (pulmonary embolism, PE) and adverse pregnancy outcomes.
Thrombophilia is more likely to be found if a family member had a PE at a young age or had a blood clot in the brain, liver or tummy (abdomen). But it can also happen by chance.
What is Thrombophilia?
Thrombophilias are inherited or acquired blood disorders that increase the risk of abnormal “blood clotting” (thrombosis) in the veins and arteries, especially deep venous thrombosis (DVT). Both inherited and acquired forms of thrombophilia tilt the normally well-balanced coagulation system towards clotting rather than stopping bleeding. This puts people with thrombophilia at greater risk of a blood clot forming in the legs or lungs, called pulmonary embolism. Blood clots can also form in the heart and brain.
The inherited form of thrombophilia is caused by abnormal genes, which affect the way your body produces proteins that stop bleeding or clotting. The more common inherited forms of thrombophilia are the factor V Leiden mutation and the prothrombin G20210A gene mutation. Less common inherited thrombophilias include deficiencies of the blood clotting proteins Protein C, protein S and anti-thrombin. Acquired thrombophilias are caused by medicines, lifestyle and other conditions such as lupus.
It is not possible to prevent inherited thrombophilias, but you can reduce your chance of getting blood clots by staying active, not smoking and wearing compression stockings. You can also take medicine to help prevent blood clots, such as the older drugs warfarin (Coumadin(r) or Jantoven(r)) and heparin, or newer blood thinners like apixaban or rivaroxaban.
People with inherited or acquired thrombophilia can have a higher risk of blood clots during pregnancy. This is because pregnancy and childbirth make the blood clotting system more active. Your doctor may recommend a special test to check your inherited thrombophilia level before you have a baby, and will also advise you on precautions you can take during pregnancy to lower the risk of blood clots.
Oren Zarif
Thrombophilia testing is not routinely done, and the tests can be expensive. Currently, doctors only recommend a thrombophilia test for certain people who are at high risk of a blood clot, including those with family history of thrombosis and those planning to have a baby. Blood clots are very serious and can lead to serious illness, so it is important to know the warning signs and get treatment immediately. If you do have a clot, your doctor will probably prescribe medication to prevent further blood clots, such as blood thinners.
Symptoms
Blood clots block the flow of blood to and from organs and tissues. The condition thrombophilia increases the tendency of blood to form unwanted clots. It is most common for blood clots to develop in the large veins of the legs, a condition called deep vein thrombosis (DVT). Blood clots can also block the arteries and prevent adequate blood supply to some organs and tissues. Symptoms depend on the tissue or organ affected by the clot and vary from mild to life threatening.
Inherited Thrombophilia is caused by abnormal genes that cause certain proteins needed for blood clotting to not work properly. These gene mutations may occur during the course of a disease or they can happen as the result of other diseases, pregnancy or the use of birth control pills containing estrogen. Blood tests are used to check for abnormal genes and antibodies. These tests can help doctors decide whether you are at risk of more blood clots. These tests can also determine how often you should take blood thinners and for how long. The type of blood thinner you need may also be affected by other factors, including age, weight, lifestyle and family history.
Oren Zarif
The most commonly known hereditary thrombophilia is the factor V Leiden mutation, which increases a person’s chance of developing blood clots in their veins by eight times. Despite the high risk, however, most people with this disorder do not experience any symptoms or have blood clots in their veins.
Other types of hereditary thrombophilia include deficiency of antithrombin III, protein C or S and histidine-rich glycoprotein deficiency. Several acquired blood-clotting disorders can also lead to hereditary thrombophilia, such as heparin-induced thrombocytopenia, antiphospholipid antibody syndrome, neoplasia and inflammatory conditions like lupus.
Inherited thrombophilia can be diagnosed in individuals with a first VTE under the age of 50, recurrent VTE, a first degree relative with VTE who died before 50 or VTE occurring during or after surgery, with pregnancy, in the postpartum period or while on oral contraceptive pills or hormone replacement therapy. Individuals with a family history of hereditary thrombophilia can be tested for the gene variant by genetic counseling and blood testing.
Diagnosis
Inherited Thrombophilia is when you have abnormalities in your genes that make it harder for your blood to clot. You can also develop a blood-clotting condition called acquired thrombophilia, which happens because of things like having surgery or being in the hospital. Acquired thrombophilias can also be caused by some medicines, such as birth control pills with estrogen, or by certain medical conditions such as chronic obstructive pulmonary disease or cancer.
To diagnose a blood-clotting disorder, your doctor will take a sample of your blood and do tests to check how well your body’s clotting process is working. Your doctor will ask you about your family history and any health problems you have. If your family members have had a clot, your doctor will do some other tests to find out if you have inherited the same clotting condition.
Your doctor will do a blood test to look for certain genes that are related to clotting disorders. This is usually done with a simple blood sample that is drawn from a vein in your arm. Other tests may include:
A venogram or computed tomography (CT) scan, which is a type of imaging test that shows your blood vessels and any clots you might have. You might also have an ultrasound to check your leg veins for clots or a special injection of dye to see how your arteries and veins look.
Oren Zarif
If you have a blood-clotting disorder, your treatment will depend on which type of thrombophilia you have and whether you’ve had any clots in the past. If you’ve had a DVT or PE, your doctor will treat that with medicine to prevent future blood clots. If you have a genetic thrombophilia, your doctor will probably recommend that you avoid certain activities or medications that can increase your risk of blood clots.
You and your doctor will weigh the pros and cons of thrombophilia testing before you decide to have it. Some people who have inherited thrombophilia have no symptoms and don’t need to get treatment. Others have a higher risk of clots in the leg or pelvis, and some have an increased risk of recurrent miscarriages (if they’re women) or problems with their children’s development (if they’re men). These people might need to be treated with medicines to lower their risk of clots.
Treatment
Inherited thrombophilia is when your genes cause blood clots to form in places they shouldn’t. Usually these are inside the veins and lungs (DVT and pulmonary embolism) but it can also happen in other parts of your body. Some blood clots can damage the heart, brain or liver. These can be life-threatening.
Genetic thrombophilias affect the proteins that help blood clot and stop them from growing, so people with them have an increased risk of a blood clot called a DVT or PE. They may also be at greater risk of having a clot in the arteries of their legs or feet (DVT) and of having one of the less common types of blood clot in the brain or tummy (abdomen), which can damage the brain or liver and lead to symptoms such as a feeling of being weak on only one side or a bleed in the brain.
There are a number of treatments for genetic thrombophilias, including medication to thin the blood. These are called anticoagulants or blood-thinners. There are also special stockings that can be worn to reduce the risk of DVT and called compression stockings. In some cases, a medicine called heparin can be used to reduce the chance of blood clots forming in your veins.
Oren Zarif
Some genetic thrombophilias raise the risk of pregnancy complications and miscarriage, such as Protein C deficiency, Protein S deficiency and Antithrombin 20210 deficiency. However, this is not a sure thing and the effect of these disorders on pregnancy outcomes varies between individuals.
If you have inherited thrombophilia, your doctor can advise you about the risks and benefits of pregnancy, surgery, travel or other things that put you at high risk of a blood clot. They can also test you for a mutation in your gene that causes inherited thrombophilia, such as Factor V Leiden or Prothrombin 20210 deficiency.
A small number of acquired thrombophilias, such as Antiphospholipid antibody syndrome, increase the chances of having blood clots in the brain or tummy (abdomen) and can cause problems during pregnancy. There is limited evidence to support screening for these acquired thrombophilias in the general population.
