Thrombophilia
Overview
What is thrombophilia?
Thrombophilia is a blood disorder that makes the blood in your veins and arteries more likely to clot. This is also known as a "hypercoagulable" condition because your blood coagulates or clots more easily. Thrombophilia can be an inherited (genetic) or acquired tendency to form blood clots both 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’s not needed 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 are carrying oxygen your cells need. If there’s a clog in your blood vessels, your blood can’t deliver oxygen to your cells.
How does thrombophilia affect my body?
Blood clots can travel all over your body, causing serious problems in your:
- Lungs (pulmonary embolism).
- Heart (heart attack).
- Brain (stroke).
- Kidneys (kidney failure).
- Leg or arm veins (deep vein thrombosis or DVT).
- A developing fetus (miscarriage).
Thrombophilia can also encourage clot formation in your peripheral arteries that can cause blockages (peripheral artery disease or PAD).
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.
Genetic (inherited) thrombophilia is the type you get from your parents. You can get a copy of the gene from your mother, father or both. You may have this type if you’ve had miscarriages or blood clots before middle age. It’s possible that you have a relative who had blood clots, too.
Types of genetic thrombophilia
Factor V Leiden thrombophilia
- The most common type of genetic thrombophilia (found in 5% to 8% of people of European descent).
- Higher risk of getting a first event deep vein thrombosis (DVT), but probably not higher risk for more blood clots after the first one.
Prothrombin thrombophilia
- The second most common type of genetic thrombophilia.
- Higher risk of first event pulmonary embolism, deep vein thrombosis (DVT) or miscarriage, but probably not higher risk for more blood clots after the first one.
Less common types of hereditary thrombophilia include:
- Protein C deficiency.
- Protein S deficiency.
- Antithrombin III deficiency.
Acquired thrombophilia, which is more common than the inherited kind, comes from a variety of things, such as medicines, your lifestyle or diseases. The most common acquired thrombophilia is antiphospholipid antibody syndrome, which is the most aggressive thrombophilia.
What are the risk factors for blood clots?
Thrombophilia risk factors include:
- Being overweight.
- Being pregnant.
- Smoking or using tobacco products.
- Having 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.
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.
How common is thrombophilia?
The two most commonly inherited forms of thrombophilia are in 1% to 5% of the population. Less than 1% of people have inherited types of thrombophilia that are not as common. Blood clots are more likely due to risk factors listed above than due to a thrombophilia.
Symptoms and Causes
What are the symptoms of blood clots due to thrombophilia?
You may not feel any symptoms of thrombophilia unless you get a blood clot. Blood clot symptoms differ in various parts of your body.
| Area of the body | Blood clot symptoms |
|---|---|
| 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, feeling lightheaded, nausea. |
| Lungs | Fast breathing, Faster heart rate, shortness of breath, painful deep breathing, chest pain. |
| Abdomen | Nausea, throwing up, pain in your abdomen. |
| Leg or arm | Swelling, pain, warm feeling. |
What causes thrombophilia?
Causes of thrombophilia include:
- A problem with or lack of a protein your body needs for clotting (hereditary thrombophilia).
- Antiphospholipid antibody syndrome, which includes three separate antiphospholipid antibodies.
- Disseminated intravascular coagulation.
- Medical illnesses such as hepatitis, HIV and liver disease.
Diagnosis and Tests
How is thrombophilia diagnosed?
Your provider will want:
- Your medical history.
- A physical exam.
- Blood tests.
- Tests that show what’s going on in your body.
Who should be tested for thrombophilia if you get a blood clot?
You should get a test for thrombophilia if:
- 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.
What tests will be done to diagnose thrombophilia?
Your provider may order several imaging tests, including:
- X-rays.
- Ultrasound.
- CT scan.
Management and Treatment
How is thrombophilia treated?
Providers treat thrombophilia with medicine or surgery. If blood clots affect your legs, your provider may give you compression stockings.
What medications are used for thrombophilia?
Providers order medicines, such as:
- Blood thinners like heparin, warfarin (Coumadin®) or the newer blood thinners like rivaroxaban or apixaban.
- Thrombolytics (clot dissolving drugs used only in emergencies).
What are the side effects of blood clots due to thrombophilia treatment?
You may bleed too much when you’re taking blood thinners.
How do I take care of myself with thrombophilia?
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, such as during meal preparation.
How soon after treatment will I feel better?
It is important to know that blood thinners do not dissolve blood clots. They stabilize the blood clots so they don’t move or get bigger, and allow the body’s natural resources to absorb the clot over time.
However, thrombolytics you get through an IV can dissolve clots quickly.
Prevention
How can I prevent blood clots due to thrombophilia?
The easiest thing to remember to prevent blood clots is to keep your body moving. If you’re traveling or recovering from an illness or surgery, you still need to get up and walk around every couple of hours. It’s also important to stay hydrated.
Other ways to prevent thrombophilia include:
- Don’t smoke.
- Get to a healthy weight and stay there.
- Make exercise part of your routine.
- Get treatment for medical conditions that can cause thrombophilia.
- If you’re on blood thinner medication, it’s important that you take your medication every day and watch for any signs of bleeding such as nosebleeds, blood in your urine or blood in your stool. Let your provider know immediately if you have any issues with your blood thinner.
- Make sure you’re up to date with all cancer screenings your provider recommends for your age. Cancer is a strong risk factor for developing blood clots.
Outlook / Prognosis
What can I expect if I have thrombophilia?
Many people who have thrombophilia never get a blood clot, but some people get more than one. You may have to take medicines that keep your blood from clotting too much.
How long does thrombophilia last?
If you inherited thrombophilia, you’ll have it for life. Other kinds of thrombophilia can improve when you treat the condition that caused it.
What is the outlook for 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.
Living With
How do I take care of myself with thrombophilia?
You may need to take blood thinners if your risk for 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.
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 that are safe for the fetus like heparin or enoxaparin.
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 new leg swelling, shortness of breath or chest pain.
When should I go to the ER?
Call 911 if you think you’re having a stroke, heart attack or pulmonary embolism (blood clot in the lungs).
What questions should I ask my primary care doctor when I have a blood clot?
- Am I at risk for any underlying 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 such as a vascular medicine specialist or hematologist?
A note from Cleveland Clinic
Thrombophilia can put you at a higher risk of blood clots, but many people with this disorder never get a blood clot. If you have thrombophilia in your family, check with your provider to see if they want to screen you for it. You can manage thrombophilia with medicine, but be sure to keep all of your follow-up appointments with your provider.
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