thrombophiliaThrombophilia is a condition in which there’s an imbalance in naturally occurring blood-clotting proteins, or clotting factors. This can put people at risk of developing blood clots.

Clotting of the blood, or coagulation, is generally a good thing. It’s what stops the bleeding when a blood vessel is injured. However, if those clots don’t dissolve, or an individual tends to develop clots even when they 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 a blood clot develops. Thrombophilia can be inherited or it can be acquired later in life.

Thrombophilia doesn’t cause any symptoms, so people might not even know they have it unless they 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 the calf or leg
  • leg ache or pain
  • pain that intensifies when the foot is bent 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 the 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
  • fainting

A pulmonary embolism requires emergency medical treatment.

Recurrent miscarriage might also be a sign of thrombophilia.

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 the risk, having this genetic mutation doesn’t necessarily mean a person has 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

Thrombophilia is diagnosed through blood testing. These tests can identify the condition, but they can’t always determine the cause.

If an individual has a family history of thrombophilia, genetic testing may be able to identify other family members with the same condition. When considering genetic testing, individuals should ask their doctor if the results would have any impact on treatment decisions.

Treatment may not be needed at all unless a blood clot develops, or if an individual is at high risk of developing one. Some factors that can influence treatment decisions are:

  • age
  • family history
  • overall health
  • lifestyle

There are some things that can be done to lower the risk of developing blood clots:

  • Current smokers should stop smoking.
  • 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. In the case of a clot that needs immediate treatment, heparin is a fast-acting injectable drug that can be used with the warfarin.

Regular blood testing needs to be done to make sure that the right amount of warfarin is being taken. Blood tests include the prothrombin time test and International Normalized Ratio (INR).

If a dose is too low, a person can still be at risk of blood clots. If the dose is too high, there is a risk of excessive bleeding. The tests will help a doctor adjust the dose as needed.