Thrombophilia is a condition in which there’s an imbalance in naturally occurring blood-clotting proteins, or clotting factors. This can put you at risk of developing blood clots.
Clotting of the blood, or coagulation, is generally a good thing. It’s what stops the bleeding when you’ve injured a blood vessel.
But if those clots don’t dissolve, or you tend to develop clots even when you haven’t been injured, it can be a serious, even life-threatening problem.
Blood clots can break off and travel through the bloodstream. People with thrombophilia may be at increased risk of developing deep vein thrombosis (DVT) or a pulmonary embolism. Blood clots can also cause heart attack and stroke.
It’s difficult to say how many people have thrombophilia, since symptoms don’t appear unless you develop a blood clot. Thrombophilia can be inherited or you can acquire it later in life.
Thrombophilia doesn’t cause any symptoms, so you might not even know you have it unless you have a blood clot. Symptoms of a blood clot depend on where it’s located:
- arm or leg: tenderness, warmth, swelling, pain
- abdomen: vomiting, diarrhea, severe abdominal pain
- heart: shortness of breath, nausea, light-headedness, sweating, discomfort in the upper body, chest pain and pressure
- lung: shortness of breath, sweating, fever, coughing up blood, rapid heartbeat, chest pain
- brain: trouble speaking, vision problems, dizziness, weakness in the face or limbs, sudden severe headache
DVT usually involves only one leg. Symptoms can include:
- swelling and tenderness in your calf or leg
- leg ache or pain
- pain that intensifies if you bend your foot upward
- area is warm to the touch
- skin is red, usually at the back of the leg, below the knee
DVTs can sometimes occur in both legs. It can also happen in the eyes, brain, liver, and kidneys.
If the clot breaks free and enters the bloodstream, it can end up in the lungs. There, it can cut off the blood supply to your lungs, quickly becoming a life-threatening condition called pulmonary embolism.
Symptoms of a pulmonary embolism include:
- chest pain
- shortness of breath
- lightheadedness, dizziness
- dry cough, or coughing up blood or mucus
- pain in the upper back
A pulmonary embolism requires emergency medical treatment. If you have some of these symptoms, call 911 immediately.
Recurrent miscarriage might also be a sign that you could have thrombophilia.
There are quite a few types of thrombophilia, some you’re born with and some you develop later in life.
Factor V Leiden thrombophilia is the most common of the genetic forms, mainly affecting people of European ancestry. It’s a mutation of the F5 gene.
While it increases your risk, having this genetic mutation doesn’t necessarily mean you’ll have a problem with blood clots. In fact, only about 10 percent of people with factor V Leiden do.
The second most common genetic type is prothrombin thrombophilia, which mainly affects people of European ancestry. It involves a mutation in the F2 gene.
Genetic types of thrombophilia may raise the risk of multiple miscarriages, but most women with these genetic mutations have normal pregnancies.
Other inherited forms include:
- congenital dysfibrinogenemia
- hereditary antithrombin deficiency
- heterozygous protein C deficiency
- heterozygous protein S deficiency
The most common acquired type is antiphospholipid syndrome. About 70 percent of those affected are female. And 10 to 15 percent of people with systemic lupus erythematosus also have antiphospholipid syndrome.
This is an autoimmune disorder that causes antibodies to attack phospholipids, which help keep your blood at the proper consistency.
Antiphospholipid syndrome may increase the risk of pregnancy complications such as:
Other causes of acquired thrombophilia include:
- prolonged bed rest, such as during illness or following a hospital stay
- traumatic injury
- acquired dysfibrinogenemia
Whether or not you have thrombophilia, there are a number of other risk factors for developing blood clots. Some of these are:
- use of oral contraceptives
- hormone replacement therapy
Thrombophilia is diagnosed through blood testing. These tests can identify the condition, but they can’t always determine the cause.
If you or someone in your family has thrombophilia, genetic testing may be able to identify other family members with the same condition. When considering genetic testing, you should ask your doctor if the results would have any impact on treatment decisions.
Genetic testing for thrombophilia should only be done with the guidance of a qualified genetic counselor.
You may not need treatment at all unless you develop a blood clot or are at high risk of developing one. Some factors that can influence treatment decisions are:
- family history
- overall health
There are some things you can do to lower your risk of developing blood clots:
- If you smoke, stop.
- Maintain a healthy weight.
- Exercise regularly.
- Maintain a healthy diet.
- Try to avoid long periods of inactivity or bed rest.
Medications may include anticoagulants such as warfarin or heparin. Warfarin (Coumadin or Jantoven) is an oral drug, but it takes a few days to start working. If you have a clot that needs immediate treatment, heparin is a fast-acting injectable drug that can be used with the warfarin.
You’ll need regular blood testing to make sure that you’re taking the right amount of warfarin. Blood tests include the prothrombin time test and International Normalized Ratio (INR).
If your dose is too low, you’ll still be at risk of blood clots. If the dose is too high, you’re at risk of excessive bleeding. The tests will help your doctor adjust the dose as needed.
If you have thrombophilia, or if you’re taking anticlotting medications, be sure to inform all healthcare professionals before having medical procedures.
You can’t prevent inherited thrombophilia. And while you can’t completely prevent acquired thrombophilia, there are some steps you can take to reduce your chances of developing a blood clot.
Blood clots should be treated immediately, so learn the warning signs.
You can have thrombophilia and never develop a blood clot or need treatment. In some cases, your doctor may recommend long-term use of blood thinners, which will require periodic blood testing.
Thrombophilia can be successfully managed.