Thrombophilia

What is thrombophilia?

Thrombophilia is a blood disorder that makes the blood in your veins and arteries more likely to clot. Healthcare providers call this a “hypercoagulable” condition because your blood coagulates or clots more easily. Thrombophilia can be an inherited (genetic) or acquired tendency to form blood clots in arteries and veins.

Normally, your body makes a blood clot when you cut your finger with a knife, for example. The blood clot stops the bleeding. Later, your body breaks the clot apart when it doesn’t need it anymore. When you have thrombophilia, your body makes too many blood clots or doesn’t break down the old ones.

Blood clots can cause clogs or blockages in your veins or arteries. This can hurt your major organs or cause a stroke or heart attack because your blood vessels carry the oxygen your cells need. A clog in your blood vessel keeps blood from getting to your cells.

What are the types of thrombophilia?

There are two types of thrombophilia: the kind you’re born with (genetic) and the kind you get (acquired) in other ways.

• Acquired thrombophilia, which is more common than the inherited kind, comes from a variety of things, like medicines, your lifestyle or diseases. The most common acquired thrombophilia is antiphospholipid syndrome. It’s also the most aggressive thrombophilia.
• Genetic (inherited) thrombophilia is the type you get from one or both of your parents. The affected gene causes your body to make certain clot-forming proteins that don’t work the way they should. Some genetic issues make you unable to produce enough of a protein you need to stop clotting. You may have inherited thrombophilia if you’ve had miscarriages or blood clots before age 40. You may have a relative who had blood clots, too.

Types of genetic thrombophilia

Types of genetic thrombophilia include:

• Factor V Leiden thrombophilia: The most common type of genetic thrombophilia (affecting 1% to 5% of the population). People with this type have a higher risk of getting a first-event deep vein thrombosis (DVT), but probably not a higher risk for more blood clots after the first one.
• Prothrombin thrombophilia: The second most common type of genetic thrombophilia, affecting 1% to 5% of the general population. People with this type have a higher risk of first-event pulmonary embolism, deep vein thrombosis (DVT) or miscarriage, but probably not a higher risk for more blood clots after the first one.
• Protein C deficiency: Less common type, affecting less than 1% of people. This type of thrombophilia puts you at a higher risk of repeated blood clots. If you got it from both parents, it can be life-threatening.
• Protein S deficiency: Less common type, affecting less than 1% of people. An even rarer form (from both parents) can cause a life-threatening clotting issue in infants.
• Protein Z deficiency: This type can increase your risk of thromboembolisms and pregnancy complications (miscarriage and preeclampsia).
• Antithrombin deficiency: Less common type, affecting 1 in 500 to 5,000 people. But those who have it have a higher risk of blood clots than people with other inherited blood clotting disorders. More than 80% of people with this type of thrombophilia get at least one blood clot by age 50.

What are the symptoms of blood clots from thrombophilia?

You may not feel any thrombophilia symptoms unless you get a blood clot. Blood clot symptoms differ in various parts of your body:

Brain

• Seizures.
• Sudden headache.
• Difficulty talking or seeing.
• Feeling weak on one side of your body.

Heart

• Shortness of breath.
• Chest pain.
• Painful left arm.
• Sweating.
• Lightheadedness.
• Nausea.

Lungs

• Fast breathing.
• Fast heart rate.
• Shortness of breath.
• Painful deep breathing.
• Chest pain.

Belly

• Nausea.
• Throwing up.
• Pain in your belly.

Leg or arm

• Swelling.
• Pain.
• Warm feeling.

What causes thrombophilia?

In addition to a genetic problem with a protein your body uses for clotting, causes of thrombophilia include other medical issues, like:

• Antiphospholipid syndrome.
• Disseminated intravascular coagulation (DIC), a rare blood clotting disorder.
• Hepatitis.
• HIV.
• Liver disease.

What are the risk factors for thrombophilia?

Thrombophilia risk factors include:

• Having overweight.
• Being pregnant.
• Using tobacco products.
• Having atherosclerosis, cancer, diabetes, HIV or certain heart problems.
• Not moving your body for a long period of time.
• Having surgery or being in the hospital.
• Taking birth control pills containing estrogen.
• Taking hormone replacement therapy containing estrogen.
• Having a family history of blood clots.
• Being an older adult.
• Having unexplained miscarriages.
• Having more than one blood clot by age 40.

What are the complications of thrombophilia?

Blood clots can travel all over your body, limiting or blocking blood flow to your organs. This can cause serious problems in your:

• Lungs (pulmonary embolism).
• Heart (heart attack).
• Brain (stroke).
• Kidneys (kidney failure).
• Leg or arm veins (deep vein thrombosis or DVT).
• Leg and pelvis arteries (peripheral artery disease or PAD).
• Developing fetus (miscarriage).

How is thrombophilia diagnosed?

Your provider can make a thrombophilia diagnosis with:

• Your medical history.
• A physical exam.
• Blood tests to check for a genetic cause of thrombophilia.
• Tests that show what’s going on in your body.

Who should get a test for thrombophilia?

You should get a test for thrombophilia if you get a blood clot and:

• You had a blood clot before age 50.
• You have a strong family history of blood clots.
• You have clots without a known cause (no risk factors).
• You have clots in unusual locations.
• You’ve had frequent miscarriages.
• Testing will influence the choice and length of time for blood thinner therapy.
• Your provider wants to test family members who may be at risk of developing blood clots.

Some conditions can give you a false positive test result, so make sure your provider knows your full medical history. Conditions that can affect test results include:

• Liver disease.
• A lack of certain vitamins.
• Nephrotic syndrome (a kidney issue).
• Pregnancy.

What tests will be done to diagnose thrombophilia?

Your provider may order thrombophilia testing that includes:

• Angiograms or venograms (X-rays that read a dye injection in your blood vessels).
• Ultrasound (using sound waves).
• Computed tomography (CT) scan (using X-rays and a computer).

How is thrombophilia treated?

Although you can’t cure the kind of thrombophilia that you inherit, you can treat it.

Thrombophilia treatment for acquired or inherited types of the condition may include compression stockings for your legs or medicine to prevent or break up a blood clot. Some people may need surgery to remove a blood clot.

Specific medicines used

Providers order medications, such as:

• Blood thinners (anticoagulants) like heparin, warfarin (Coumadin® or Jantoven®) or newer blood thinners like rivaroxaban or apixaban.
• Thrombolytics (clot-dissolving drugs that providers use only in emergencies).

Side effects of blood thinners

Side effects of blood thinners may include:

• Bleeding too much when you get a cut.
• Having chills.
• Losing hair.
• Having nosebleeds.
• Having pain in your belly.

How soon after treatment will I feel better?

It’s important to know that blood thinners don’t dissolve blood clots. They stabilize the blood clots so they don’t move or get bigger, and allow your body’s natural resources to absorb the clot over time.

But thrombolytics you get through an IV can dissolve clots quickly.

How can I lower my risk of thrombophilia?

You can’t prevent thrombophilia that you got from your parents, but you may be able to prevent some acquired thrombophilias.

If you’re at a high risk of blood clots, your provider may give you:

• Heparin after surgery if you’re at risk for a venous thromboembolism (VTE).
• Antithrombin injection before and after surgery if you don’t have enough antithrombin.
• Compression stockings or an intermittent pneumatic compression device if you’re at risk of a VTE.
• Alternatives to standard birth control pills, like certain intrauterine devices or pills that only have progestogen.
• A dose of heparin before a long flight.

You can lower your risk of acquired thrombophilia on your own by:

• Avoiding tobacco products.
• Staying at a weight that’s healthy for you.
• Walking around every hour or two on a long flight or car ride.
• Avoiding medicines that contain estrogen.
• Getting up and walking as soon after surgery as you can.
• Making exercise part of your routine.
• Getting treatment for medical conditions that can cause thrombophilia.
• Following your provider’s instructions for taking a blood thinner medication.
• Making sure you’re up to date with all cancer screenings your provider recommends for you. Cancer is a strong risk factor for developing blood clots.

What can I expect if I have thrombophilia?

Although your provider can’t cure genetic thrombophilia, they can order medicine like blood thinners for you to take for life. This medicine will help you manage your thrombophilia.

Nearly 90% of people who have thrombophilia never get a blood clot, but some people get one or more serious clots.

How long thrombophilia lasts

If you inherited thrombophilia, you’ll have it for life. Other kinds of thrombophilia can improve when you treat the condition that caused it.

How do I take care of myself?

If you have thrombophilia, you may need to take medicine for life. You also need to be careful in situations where you could get a cut, like during meal preparation.

You may need to take blood thinners if your risk of forming more blood clots is high. With some of these medicines, you’ll need to have frequent checkups.

You may also want to find safer ways to cut food, brush your teeth or shave to prevent bleeding.

When should I see my healthcare provider?

Contact your provider if you think you’re having any of the signs and symptoms of a blood clot, including:

• Leg swelling you didn’t have before.
• Shortness of breath.
• Chest pain.

Contact your provider right away if you have issues with the blood thinner you’re taking, like nosebleeds or blood in your urine (pee) or poop.

When should I go to the ER?

Get emergency medical treatment if you think you’re having a stroke, heart attack or pulmonary embolism (blood clot in your lungs).

What questions should I ask my doctor?

• Am I at risk for thrombophilia?
• What kind of thrombophilia do I have?
• Do I need to take medicine for life?
• How often do I need checkups?
• Do I need to see a blood clot specialist like a vascular medicine specialist or hematologist?

What is the difference between thrombophilia and hemophilia?

If you have thrombophilia, your blood clots too easily. If you have hemophilia, your blood doesn’t clot easily enough.

What if I have thrombophilia and I’m pregnant?

Being pregnant increases your risk of clots and a thromboembolism, even if you don’t have thrombophilia. Although there isn’t a strong link between having genetic thrombophilia and having preeclampsia or stillbirth, your provider may want to give you an anticoagulant to keep you from having a venous thromboembolism. There are specific anticoagulants, like heparin or enoxaparin, that are safe for the fetus.