Abstract

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.

Keywords:Familial hypercholesterolemia; Diagnosis in childhood and adolescence; Treatment with statins; Follow up after 20 years

Statements and Declarations:The authors declare, that all methods were carried out in accordance with relevant guidelines and regulations. The authors declare that there is no conflict of financial or nonfinancial interest. The data is from the private office for pediatrics and all patients/participants agreed the summary and publication of data. All data included in this study are available upon request by contact with the corresponding author.