What is Thrombophilia?

Thrombophilia is a condition in which individuals are prone to developing blood clots in the blood vessels. Normally, when you cut your skin and bleed, coagulation proteins and clotting blood cells (platelets) work to stop the bleeding through clotting. Once the bleeding stops, the clot dissolves. People with thrombophilia may experience abnormal clotting, such as blood clots that form even without sustaining an injury and blood clots that prohibit blood flow to the heart and other organs. This puts them at a higher risk of developing deep vein thrombosis (DVT), a pulmonary embolism, a heart attack, and a stroke. However, it is good to be aware that almost 90% of people with thrombophilia never get a blood clot, so this condition can be successfully managed.

There are two types of thrombophilia, including:

Inherited Thrombophilia

Individuals with inherited or genetic thrombophilia were born with the condition. Types of genetic thrombophilia may include Factor V Leiden, Protein C Deficiency, Protein S Deficiency, a prothrombin gene mutation, or antithrombin deficiency. These conditions may impact the coagulation system or cause a genetic mutation that increases the risk of developing abnormal blood clots. If a genetic condition is found, genetic counselors may be consulted to better understand the underlying cause and provide the best possible treatment.

Acquired Thrombophilia

This occurs when an organ in your body does not make or clear away clotting proteins properly, which prevents blood clots from forming. Factors that can increase the risk of developing thrombosis include surgery, limited mobility, and inflammatory conditions. The most commonly acquired form is antiphospholipid antibody syndrome, which is an autoimmune disorder that can increase the chances of pregnancy complications and miscarriage. 

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Thrombophilia and Pregnancy Complications

Patients with the form of acquired thrombophilia called antiphospholipid antibody syndrome have an increased risk of pregnancy complications such as preeclampsia, a small birth weight, miscarriage, and stillbirth. This syndrome occurs when your immune system mistakenly creates antibodies that make your blood more likely to clot. While there is no cure for this syndrome, there are certain medications that can be taken to reduce your risk of developing blood clots.

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Benefits of Thrombophilia Diagnosis and Treatment

  • Reduces the risk of venous thromboembolism (VTE)
  • Combat existing clots and prevent the formation of new clots
  • Increases the chance of a successful pregnancy

Qualifications for Thrombophilia Treatment

Many individuals do not know that they have this condition until they develop an abnormal blood clot. Detectable thrombophilia often occurs once an individual experiences:

  • A blood clot in a deep vein or artery
  • Blood clots in the lungs
  • A low platelet count
  • A stroke or mini-stroke
  • Unexplained miscarriages
  • Emolytic anemia (loss of red blood cells)
  • A skin condition called livedo reticularis

Preparing for Thrombophilia Treatment

Before undergoing treatment, Dr. Tepper will administer thrombophilia testing through a blood panel screening and physical examination. An ultrasound may also be included, either to check the health of your pregnancy or identify where blood clots are forming. He will also ask about your family history of clotting disorders and other conditions that could increase the risk of developing this condition. Early diagnosis allows for preventive treatment, so it is important to be aware of signs of blood clotting, like abdominal or chest pain, numbness or warmth in specific areas, and pain when walking or standing.

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During Thrombophilia Treatment

After an initial evaluation, Dr. Tepper will create a personalized treatment plan based on the size and location of the clot. It may involve blood-thinning medications such as low molecular weight heparin or warfarin, which are safe to take when pregnant. However, those taking blood thinners have a higher chance of experiencing bleeding episodes, so your doctor will need to monitor your dosage with blood tests to ensure that your blood can clot enough to stop potential bleeding. Women with this condition may need to avoid certain types of hormonal birth control that contain estrogen, since this is a risk factor for thrombophilia.

The use of compression stockings and lifestyle changes like increased physical activity and a healthy diet to promote cardiovascular health may also be recommended. For those who have venous thrombosis and are pregnant, Dr. Tepper will monitor you closely, which may involve undergoing the following tests:

  • Checking for high blood pressure.
  • Tests to evaluate blood clotting levels in the blood.
  • Ultrasound.
  • Fetal heart monitoring.
  • Doppler ultrasound studies

Post Thrombophilia Care

While thrombophilia cannot be cured, it is managed with continuing use of anticoagulant medication and lifestyle changes. Many patients have had successful pregnancies and are able to continue with their normal routines while living with thrombophilia. A few extra precautions should be taken to avoid cuts, and alcohol consumption should be limited to reduce the risk of heavy bleeding while taking clotting medications.

Learn More About Thrombophilia Treatment

If you have been diagnosed with thrombophilia and are trying to become pregnant or are pregnant, do not hesitate to reach out to our office today. We will be happy to schedule your appointment with board-certified OB/GYN Dr. Alex A. Tepper, during which he will create a treatment plan to help ensure the health of you and your baby. 

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Whether you are a new or returning patient, Dr. Tepper can assess your concerns and discuss your options to find the most comfortable and convenient care for you. To get started, call our office to set up an appointment.

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