GENEdiagnostics
Heart Disease, Thrombosis and Cholesterol

Familial Hypercholesterolemia (high cholesterol):
An autosomal dominant genetic condition characterized by very high levels of total cholesterol and low-density lipoprotein (LDL, "bad cholesterol") cholesterol. This condition results in an increased risk for coronary heart disease and premature death. The Afrikaner, French Canadians, Lebanese Christians, and Finns have high rates of specific mutations that make FH particularly common in these groups (approximately 1 in 100).
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PAI-1 Gene Mutation (coronary artery disease):
When PAI-1 is high, there is increased risk for arterial and venous thrombosis. PAI-1 is an independent risk factor for coronary artery disease and ischemic stroke. It is also a major independent risk factor for venous thrombosis, including osteonecrosis (lack of blood supply to the bones). It is found in the majority of populations at a frequency of 1 in 1000.
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Homocysteine (blood clots and cardiovascular disease):
A high level of blood serum homocysteine is a powerful risk factor for cardiovascular disease. High homocysteine levels in the blood can damage the lining of the arteries.

In addition, high homocysteine levels may make blood clot more easily, increasing the risk of blood vessel blockages (thrombus). A thrombus can travel in the bloodstream and get stuck in the lungs (pulmonary embolism), in the brain (which can cause a stroke) or in the heart (which can cause a heart attack.)

High levels of homocysteine are an increased risk for coronary artery disease. The most common mutations occur at a frequency of about 1 in 1000 in the general population.
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Factor V Leiden (venous thrombosis):
Factor V Leiden thrombophilia is an autosomal dominant disorder of blood clotting (increased tendency to form abnormal blood clots in blood vessels).

Individuals with the factor V Leiden mutation are at a higher than average risk for a type of clot that forms in veins, such as the deep veins of the legs (deep venous thrombosis), or a clot that travels through the bloodstream and lodges in the lungs (pulmonary embolism). The factor V Leiden mutation is associated with an increased risk of pregnancy loss (miscarriage), and some research suggests that it may also increase the risk of other complications during pregnancy.

These complications may include pregnancy-induced high blood pressure (preeclampsia), slow fetal growth, and early separation of the placenta from the uterine wall (placental abruption). However, most women with the factor V Leiden mutation have normal pregnancies. Between 3 percent and 8 percent of the Caucasian (white) population carry the factor V mutation. The mutation is less common in other populations (approximately 1 in 1000).
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Factor II (premature clotting of blood vessels):
Prothrombin thrombophilia is an inherited disorder of blood clotting. Thrombophilia is an increased tendency to form abnormal blood clots in blood vessels. Affected people have an increased risk of developing a pulmonary embolism, which is a clot that travels through the bloodstream and lodges in the lungs.

Some research suggests that prothrombin thrombophilia is associated with an increased risk of pregnancy loss (miscarriage) and may also increase the risk of other complications during pregnancy. These complications may include pregnancy-induced high blood pressure (preeclampsia), slow fetal growth, and early separation of the placenta from the uterine wall (placental abruption).

Approximately 1 in 50 people in the Caucasian population has prothrombin thrombophilia. This condition is less common in other ethnic groups, occurring in less than one percent of African-American, Native American, or Asian populations.
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Apolipoprotein E-associated Lipid Disorders (clogged arteries):
Lipid and lipoprotein abnormalities are extremely common in the general population, and are regarded as a risk factor for cardiovascular disease due to the influence of cholesterol on atherosclerosis. In addition, some forms may predispose to acute pancreatitis.
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