Genetic testing of familial hypercholesterolemia in clinical practice: statement of Czech Society for Atherosclerosis
Abstract
Although awareness about familial hypercholesterolemia (FH) is increasing, this widespread and potentially fatal, but treatable disease, remains underdiagnosed. Although FH is an inherited condition, genetic testing for this disease is still rare.
The Familial Hypercholesterolemia Foundation convened an international panel of experts to evaluate the usefulness of molecular genetic testing for FH. The findings that form the basis for justification of the examination are as follows: (1) detection of a causal mutation facilitates the definitive diagnosis (2) presence of a pathogenic mutation involves a higher cardiovascular risk and potentially requires more aggressive lipid lowering (3) for genetically demonstrated FH, there is an increased likeli-hood of early initiation of and adherence to treatment; and (4) the knowledge of the causal mutation essentially facilitates the cascade examination of relatives at risk.
The consensus of the panel of experts recommends that genetic testing for FH becomes a standard in the care of patients with verified or likely FH and their relatives at risk. The genes encoding the low-density lipoprotein receptor (LDLR), apolipoprotein B (apoB) and proprotein convertase subtilisin/kexin type 9 (PCSK9) should be tested.
Other genes can be included in the examination according to the patient's phenotype. The benefits will be an increase in the number of diagnosed patients, a more effective cascade examination, initiation of treatment at an earlier age and more accurate risk identification.