Treatment and long term follow-up of children and young adults with familial hypercholesterolemia

Familial hypercholesterolemia (FH) is a common, genetic, autosomal dominant condition, resulting in reduced capacity to clear low density lipoprotein (LDL) from the circulation and increased risk of cardiovascular disease. Typically LDL-cholesterol (LDL-C) levels are doubled from birth on. Development of atherosclerosis can be prevented by treatment with cholesterol lowering drugs, usually statins. Guidelines recommend initiating statin therapy from 8-10 years of age. In the thesis, Treatment and long term follow-up of children and young adults with familial hypercholesterolemia, Gisle Langslet and co-workers investigated open-label treatment with rosuvastatin for 2 years and atorvastatin for 3 years, in children with FH, aged 6 to 17 years. LDL-C was reduced by approximately 40 % in both studies. There were no serious safety issues and the treatment had no evident effect on growth or pubertal development. Increased thickness of the arterial wall in the carotid arteries, carotid intima-media-thickness (cIMT), is an early sign of atherosclerosis. In the rosuvastatin study, already before 8 years of age, cIMT was higher in untreated children with FH, compared with siblings without FH. After 2 years of rosuvastatin treatment in the children with FH, the difference in cIMT was no longer significant. Paper IV reports adherence and effect of treatment in 67 young adults with FH, having started with lipid lowering therapy (LLT) around 15 years of age. At mean age 25 years, 25 % had stopped using LLT and only 6 % attained their LDL-C goal. Paper V reports lipid lowering treatment in 302 children at the Lipid Clinic in 2014-2016. Mean age at start of statins was 12.5 years, 59 % were treated at their last visit and 71% of those on stable LLT attained their LDL-C goal. In conclusion, early start of statins in children with FH is safe and can slow down the arteriosclerotic process. Regular follow-up is important to obtain satisfactory adherence and attain treatment goals