Familial Hypercholesterolemia

Familial hypercholesterolemia is a genetic condition characterized by elevated plasma levels of LDL cholesterol which, being in excess, deposits in various tissues of the body such as the skin, vascular walls, eyes, and tendons. This condition is due to mutations in some genes involved in the transport or metabolism of cholesterol such as LDLR, PCSK9, and APOB. Individuals with familial hypercholesterolemia have an increased risk of early development of coronary artery disease based on atherosclerosis. This risk can be significantly reduced through early diagnosis of familial hypercholesterolemia and appropriate use of preventive and therapeutic measures.

Why undergo this test?

Genetic testing, when it identifies a pathogenic mutation associated with clinical suspicion, allows molecular confirmation of the disease, providing new important insights into the diagnosis, monitoring, prevention, and therapy of familial hypercholesterolemia. Moreover, in cases where a pathogenic variant is found, it can be sought in first-degree relatives.

When is genetic analysis for familial hypercholesterolemia recommended?

Genetic testing is recommended when there is a diagnosis or clinical suspicion of familial hypercholesterolemia. This condition may be considered in individuals with a personal or family history of:

• Elevated LDL cholesterol
• Elevated total cholesterol
• First-degree relatives with premature coronary artery disease (before 55 years in men, and before 60 years in women)
• Early sudden cardiac death in a family member
• Tendon xanthomas
• Corneal arcus

How is the test for familial hypercholesterolemia performed at Arsbiomedica Clinic?

Genetic analysis for familial hypercholesterolemia is performed through blood sampling. Before and after the test, consultation with a Geneticist is scheduled to provide all the necessary information.

How to prepare for genetic testing

It is recommended to bring reports related to any previous clinical examinations performed related to the indication for genetic testing.