Abstract

Familial hypercholesterolemia (FH) is underdiagnosed, yet currently regarded as the most prevalent genetic disorder, which significantly increases the risk of early cardiovascular disease by tens of times due to markedly elevated LDL cholesterol (LDL-C) levels. Suspicions of FH arise, for instance, when LDL-C exceeds 4.9 mmol/L and when a patient has personal or family history of early coronary artery atherosclerosis or stroke. To assess the probability of the disease more precisely, the Dutch Lipid Clinic Network Score (DLCNS) is used. The treatment of FH involves lowering cholesterol levels with statins, ezetimibe, and if necessary, PCSK-9 inhibitors. This case study illustrates the diagnosis and treatment of FH in a family, most of whom are seemingly healthy, but due to FH, face a very high risk of aggressive atherosclerosis.