Clinical and Laboratory Evaluation of Cases with Familial Hypercholesterolemia: A Multicentre Study

Aim: Familial hypercholesterolemia leads to the buildup of atherosclerotic plaques in the arteries, greatly elevating the risk of early-onset coronary heart disease. The objective of this study was to examine the clinical, laboratory, and genetic profiles of patients affected by familial hypercholesterolemia. Methods: A retrospective review was performed on the demographic, clinical, biochemical and genotypic profiles of 124 individuals diagnosed with familial hypercholesterolemia. Results: These cases from 6 centres comprised 50.8% males and 49.2% females. There was a history of hypercholesterolemia in the mothers of 43.5% of the cases and in the fathers of 53.2%. At the time of diagnosis, 81.5% of the cases had no complaints, 3.2% had skin lesions and 3.2% had weight gain complaints. Mutations were detected in the LDLR gene in 95.2% of the cases, in the APOE gene in 3.2% and in the APOB gene in 1.6%. Conclusion: Familial hypercholesterolemia cases are still under-detected both in Türkiye and worldwide. Consequently, the prevention of coronary artery diseases caused by hypercholesterolemia is not feasible, underscoring the need for implementing more robust and widespread screening protocols.