Familial hypercholesterolemia (FH) is a genetic disorder with high low-density lipoprotein cholesterol (LDL-C) levels and high risk of cardiovascular disease. The long-term importance of carrying an FH mutation despite having relatively normal LDL-C levels in childhood is not known. We investigated the development of LDL-C levels and need of statin therapy in children with an FH mutation, with pretreatment LDL-C ≤ 4.1 mmol/L (~160 mg/dL), followed-up at lipid clinics in Oslo, Norway and Rotterdam, The Netherlands. Of 742 FH children, 109 (15%) had pretreatment LDL-C ≤ 4.1 mmol/L (~160 mg/dL) [mean (SD) 3.5 (0.5) mmol/L; (~130 (19) mg/dL)] measured at 11.8 (3.9) years of age [mean age (SD)]. After 8.2 (5.2) years [mean (SD)] of follow-up, 71.6% had started statin treatment. Therefore, all children carrying an FH mutation, independent of cholesterol levels, should receive follow-up at specialized lipid clinics for optimal and individualized treatment.

Children, Familial hypercholesterolemia, Low LDL-Cholesterol, Pathogenic mutation, Statin start
dx.doi.org/10.1016/j.jacl.2021.01.007, hdl.handle.net/1765/134986
Journal of Clinical Lipidology
Department of Internal Medicine

Johansen, A.K. (Anja K.), Bogsrud, M.P. (Martin P.), Roeters van Lennep, J.E, Narverud, I, Langslet, G, Retterstøl, K, & Holven, K.B. (2021). Long term follow-up of children with familial hypercholesterolemia and relatively normal LDL-cholesterol at diagnosis. Journal of Clinical Lipidology. doi:10.1016/j.jacl.2021.01.007