A 20-Year Follow-Up Study of Patients Who Have Been Diagnosed with Familial Hypercholesterolemia in Their Youth

Aim: Familial Hypercholesterolemia is an autosomal dominant inherited metabolic disorder characterized by elevated plasma levels of Low-Density Lipoprotein Cholesterol (LDL-C).These cause atherosclerosis, premature Cardiovascular (cv) disease and death.Despite high prevalence long-term data about FH patients is very limited.Therefore, this study presents data in regard to effects and outcomes of long-term treatment of FH-patients starting in childhood and adolescence.Methods: A data collection of 13 FH patients was made for this follow up study.On average the FH diagnosis had been made 20 years ago (9-31 years).86% of the included patients have a genetically confirmed FH diagnosis.The investigated parameters are family history, LDL-C at diagnosis, latest LDL-C, FH-causing mutations, therapy, compliance and if provided by the patient the intima media thickness of the carotid artery. Results:The mean initial LDL-C at diagnosis was 277mg/dl (494mg/dl-173mg/dl).While the mean latest LDL-C was 112mg/dl (208mg/dl-70mg/dl).Equaling a mean LDL-C reduction of 59,6% from diagnosis to follow-up.No clinical signs of manifestation of cv diseases could be observed.Furthermore, there have not been any reports of side effects of the lipid-lowering therapy. Conclusion:The long-term treatment of patients with FH beginning in childhood is feasible and successful.As shown in this study a therapy with statins lowers LDL-C levels by more than half and therefore most probably prevents the occurrence of later occurring cardiovascular diseases.