Adult Medical Genetics Program

Genetic Counseling for Hereditary Thrombophilia

About 1 out of every 1000 people in the United States will have a blood clot in the veins (venous thrombosis). Certain things predispose a person to developing a blood clot in the veins, including hospitalization, surgery, or being immobile for a long period of time, and age. Other people have hereditary risk factors that contributed to the development of a blood clot in the veins.

About 25 percent of people with a history of venous thrombosis have an inherited predisposition, or hereditary thrombophilia. The most common genetic factors that contribute to venous thrombosis are factor V Leiden (pronounced factor five lie-den) or mutations in prothrombin (also called factor II). Both of these genetic factors increase the likelihood that someone will develop a blood clot, however, many people with factor V Leiden or prothrombin mutations live healthy, clot-free lives.

There can be benefits to knowing if you, or a family member, has hereditary thrombophilia. You may want to consider an appointment with the Adult Medical Genetics program if you:

· Have a history of a blood clots in the veins (deep-vein thrombosis (DVT), pulmonary embolism (PE), or veins of the eye, brain, liver, or intestine)

· Have a close relative (parent, sibling or child) with a history of venous thrombosis under age 50 years

· Have a family member who had genetic testing and tested positive for hereditary thrombophilia (factor V Leiden, prothrombin mutation, MTHFR, antinthrombin III, protein C, and protein S deficiencies)

· Have a history of unexplained pregnancy losses (more than 2), especially in the 2^nd or 3^rd trimesters

· Have a history of certain pregnancy complications, such as preeclampsia or placental abruption

· Have been diagnosed with a hereditary thrombophilia and you have questions about what this means for you and/or family members

What happens at an Adult Medical Genetics appointment?

During your appointment you will meet with a genetic counselor and a doctor who specializes in genetics. We will work with you to complete a medical family history and help you understand the role of inherited factors in causing blood clots. We will discuss the implications of having hereditary thrombophilia for your health and the health of family members. We will also discuss whether genetic testing appropriate for you and/or your family. This initial consultation usually lasts about 1-2 hours.

What about genetic testing?

After a thorough discussion of pros and cons, you can decide if you want genetic testing. Usually genetic testing involves having a blood sample drawn and should begin with a family member who has had a blood clot or related condition (i.e. pregnancy complications). We will discuss any concerns you may have about genetic testing, such as the cost and insurance coverage, as well as the possible benefits of genetic testing for you and your family. If you wish, we will work with your insurance company to determine your coverage for genetic testing.

If you decide to proceed with testing, you would return at a later time to receive results. If you test positive for a hereditary thrombophilia, we will discuss ways in which you can reduce your non-hereditary risks to improve or maintain your health. We can also direct you to resources to help you better understand your condition. Lastly, we will discuss the implications of test results for other members of your family.

Will my insurance cover my visit?

We participate with most health insurance companies. Our services are often covered like any other specialist’s services. However, every insurance plan is different. Before your visit, we will provide you with the information you will need to determine your benefits prior to coming to our office. Some insurance plans require a referral from your doctor in order to get coverage for our services.

To schedule an appointment or to get more information, you can call our office at

614-293-6694 or toll free at 1-888-329-1654. You may also visit our website at: www.internalmedicine.osu.edu/genetics/3012.cfm