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 277 mg/dl (494 mg/dl - 173 mg/dl). While the mean latest LDL-C was 112 mg/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. Conclusions 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.