Long term follow-up of children with familial hypercholesterolemia and relatively normal LDL-cholesterol at diagnosis

Anja K Johansen; Martin P Bogsrud; Jeanine Roeters van Lennep; Ingunn Narverud; Gisle Langslet; Kjetil Retterstøl; Kirsten B Holven

doi:10.1016/j.jacl.2021.01.007

Long term follow-up of children with familial hypercholesterolemia and relatively normal LDL-cholesterol at diagnosis

J Clin Lipidol. 2021 Mar-Apr;15(2):375-378. doi: 10.1016/j.jacl.2021.01.007. Epub 2021 Feb 9.

Authors

Anja K Johansen¹, Martin P Bogsrud², Jeanine Roeters van Lennep³, Ingunn Narverud¹, Gisle Langslet⁴, Kjetil Retterstøl⁵, Kirsten B Holven⁶

Affiliations

¹ Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, P.O Box 1046 Blindern 0317 Oslo, Norway; Norwegian National Advisory Unit on Familial Hypercholesterolemia, Oslo University Hospital, Rikshospitalet, P.O Box 4950, Nydalen, Oslo, Norway.
² Norwegian National Advisory Unit on Familial Hypercholesterolemia, Oslo University Hospital, Rikshospitalet, P.O Box 4950, Nydalen, Oslo, Norway; Unit for Cardiac and Cardiovascular Genetics, Oslo University Hospital, Oslo, Norway.
³ Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, the Netherlands.
⁴ Lipid Clinic, Oslo University Hospital, P.O Box 4950 Nydalen, 0424 Oslo, Norway.
⁵ Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, P.O Box 1046 Blindern 0317 Oslo, Norway; Lipid Clinic, Oslo University Hospital, P.O Box 4950 Nydalen, 0424 Oslo, Norway.
⁶ Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, P.O Box 1046 Blindern 0317 Oslo, Norway; Norwegian National Advisory Unit on Familial Hypercholesterolemia, Oslo University Hospital, Rikshospitalet, P.O Box 4950, Nydalen, Oslo, Norway. Electronic address: kirsten.holven@medisin.uio.no.

PMID: 33608220
DOI: 10.1016/j.jacl.2021.01.007

Abstract

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.

Keywords: Children; Familial hypercholesterolemia; Low LDL-Cholesterol; Pathogenic mutation; Statin start.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Anticholesteremic Agents
Child
Cholesterol, LDL
Follow-Up Studies
Humans
Hyperlipoproteinemia Type II*

Substances

Anticholesteremic Agents
Cholesterol, LDL