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Apoe-genotyping-cardiovascular-disease



Why Get Tested

APOE genotype tests are most often done as part of research protocols to help understand the role of genetic factors in cardiovascular disease However the testing is sometimes used in clinical settings to help confirm a diagnosis of type III hyperlipoproteinemia also known as familial dysbetalipoproteinemia

When To Get Tested

When your health care provider suspects that you have an inherited component to your high cholesterol and triglyceride levels or if you have yellowish lesions called xanthomas on your skin

Sample Required

A blood sample drawn from a vein in your arm

Test Preparation Needed

None




Common Questions


While APOE genotyping is mostly done in research settings it can be used clinically to help in diagnosis and treatment of elevated lipid levels APOE testing may be used to help diagnose type III hyperlipoproteinemia HPL III or familial dysbetalipoproteinemia in a person with symptoms that suggest the disorder and to evaluate the potential for the condition in other family members This is a rare inherited disorder that causes fatty yellowish deposits on the skin called xanthomas a high level of triglycerides in the blood and atherosclerosis that develops at an early age APOE genotyping has potential to help guide lipid treatment In cases of high cholesterol and triglyceride levels statins are usually considered the treatment of choice to decrease the risk of developing cardiovascular disease CVD However there is a wide variability in the response to these lipid-lowering drugs that is in part influenced by the APOE genotype At present the clinical utility of this type of information is yet to be totally understood

As a test to evaluate lipid metabolism or cardiovascular risk APOE genotyping is ordered when someone has Significantly elevated cholesterol and triglyceride levels that do not respond to dietary and exercise lifestyle changes Family members who have APOE e2 e2 and a health practitioner wants to see if the person might be at a higher risk for early heart disease Yellowish skin lesions called xanthomas and the health practitioner suspects type III hyperlipoproteinemia

APOE e3 e3 is the most common genotype APOE e3 is associated with normal lipid metabolism thus may not have any genetic impact on risk of developing cardiovascular disease APOE e4 genotype e4 e4 or e4 e3 is found in 25 of the population and is associated with an increased risk of atherosclerosis People with these genotypes could be predisposed to significantly elevated levels of LDL-C bad cholesterol and triglycerides when their diet is high in saturated fat People with the APOE e2 e2 alleles tend to have lower LDL-C levels but elevated triglycerides APOE e2 is also associated with type III hyperlipoproteinemia hyperlipidemia People with APOE e2 e2 alleles are at a higher risk of premature vascular disease but they may never develop disease APOE genotyping adds additional information and if symptoms are present e2 e2 can help confirm type III hyperlipoproteinemia

APOE genotyping is not available in every laboratory If a health practitioner recommends this test the specimen will likely be sent to a reference laboratory and results may take longer to return than they would from a local laboratory Alterations in lipid concentrations do not lead directly to vascular disease or atherosclerosis Other factors such as obesity diabetes and hypothyroidism also play a role in whether a person actually develops disease

No the test is not intended to be used to screen the general population It is intended to be used in very specific situations to give a health practitioner additional information about a possible genetic cause for observed lipid abnormalities

No A person inherits one copy of the gene from each parent and genotype does not change

If so see APOE Genotyping Alzheimer Disease