Diagnosis of Familial Hypercholesterolemia

• Familial hypercholesterolemia is a highly atherogenic disorder.

• The risk of CHD is increased 10- to 20-fold.

• Phenotype is highly variable.

• Genetic testing may be beneficial in some patients.

• Clinical diagnosis of FH is based on:

• Personal and family history of hypercholesterolemia, xanthomas and early CAD.

• Genetic screening may be used, but a negative test does not exclude FH.

• Early aggressive LDL-lowering treatment is needed.

• Patients with FH can potentially live a full life.

• It is fabulous to have 7(8) classes of drugs (+apheresis).