Researchers at the Research Laboratory of Lipid Metabolism Disorders and Atherosclerosis of the WCRC for Personalized Medicine found new variants of genetic defects linked to the development of familial hypercholesterolemia.
Familial hypercholesterolemia (FHC) is the most common primary dyslipidemia that causes premature cardiovascular changes. Despite advances in genetic testing and new treatment technologies, detection rates and the level of adequate management of patients with FH remain low. Major scientific challenges are a significant discrepancy between the clinical and genetic diagnosis of the disease and the need for a more accurate CVD risk assessment.
Along with positive and negative results of genetic testing, sometimes gene testing reports describe a variant as having unknown significance, also known as VUS. This means that there is a mutation, but it is not entirely clear how it affects the risks of developing the disease. The study of such variants allows, if detected in a certain number of patients, transferring them to the positive status.