Genetic Testing and Familial Hypercholesterolemia

Familial hypercholesterolemia (FH) can be diagnosed both clinically and genetically.

Clinical Diagnosis
FH is usually diagnosed clinically with a lipid test that measures the amount of LDL cholesterol (LDL-C) in the blood, a physical exam, and a family history. Healthcare providers typically use well-established criteria, to determine how likely it is that someone has FH. However, not all individuals with FH present in the same way. Cholesterol levels may vary widely, and not everyone knows complete details of their family history.

Genetic Diagnosis
Genetic testing is done for the three currently known genes that cause FH. Since FH is passed down from generation to generation, if a genetic variant has been found, genetic testing for that specific variant can be used to test other family members – a process known as family screening or cascade screening.

Genetic Testing and Familial Hypercholesterolemia (FH)

Making the decision to have genetic testing for FH can be nuanced and is best made in partnership with a certified genetic counselor or knowledgeable physician that can assess an individual’s case. The benefits and limitations for genetic testing will vary between people based on their specific medical history and personal preferences.

Key considerations for genetic testing for FH:

The decision to undergo genetic testing is very personal and only the individual can determine the benefits and limitations of their unique circumstances.
Not all genetic tests for FH are the same: ordering the correct test and accurately interpreting the test results requires an understanding of FH genetics.
A general physician or non lipid specialist may not be knowledgable in genetic testing.
There may be concerns about privacy or discrimination that should be discussed prior to genetic testing.

It is important that you work with a certified genetic counselor or knowledgeable physician to determine what is right for you.