Sie befinden Sich nicht im Netzwerk der Universität Paderborn. Der Zugriff auf elektronische Ressourcen ist gegebenenfalls nur via VPN oder Shibboleth (DFN-AAI) möglich. mehr Informationen...
Lipoprotein(a) levels in children with suspected familial hypercholesterolaemia: a cross-sectional study
Ist Teil von
European heart journal, 2023-04, Vol.44 (16), p.1421-1428
Ort / Verlag
US: Oxford University Press
Erscheinungsjahr
2023
Link zum Volltext
Quelle
Oxford Journals 2020 Medicine
Beschreibungen/Notizen
Abstract
Aims
Familial hypercholesterolaemia (FH) predisposes children to the early initiation of atherosclerosis and is preferably diagnosed by DNA analysis. Yet, in many children with a clinical presentation of FH, no mutation is found. Adult data show that high levels of lipoprotein(a) [Lp(a)] may underlie a clinical presentation of FH, as the cholesterol content of Lp(a) is included in conventional LDL cholesterol measurements. As this is limited to adult data, Lp(a) levels in children with and without (clinical) FH were evaluated.
Methods and results
Children were eligible if they visited the paediatric lipid clinic (1989–2020) and if Lp(a) measurement and DNA analysis were performed. In total, 2721 children (mean age: 10.3 years) were included and divided into four groups: 1931 children with definite FH (mutation detected), 290 unaffected siblings/normolipidaemic controls (mutation excluded), 108 children with probable FH (clinical presentation, mutation not detected), and 392 children with probable non-FH (no clinical presentation, mutation not excluded). In children with probable FH, 32% were found to have high Lp(a) [geometric mean (95% confidence interval) of 15.9 (12.3–20.6) mg/dL] compared with 10 and 10% [geometric means (95% confidence interval) of 11.5 (10.9–12.1) mg/dL and 9.8 (8.4–11.3) mg/dL] in children with definite FH (P = 0.017) and unaffected siblings (P = 0.002), respectively.
Conclusion
Lp(a) was significantly higher and more frequently elevated in children with probable FH compared with children with definite FH and unaffected siblings, suggesting that high Lp(a) may underlie the clinical presentation of FH when no FH-causing mutation is found. Performing both DNA analysis and measuring Lp(a) in all children suspected of FH is recommended to assess possible LDL cholesterol overestimation related to increased Lp(a).
Structured Graphical Abstract
Structured Graphical Abstract
Evaluation of Lp(a) levels in nearly 3000 children suspected of FH suggests that high levels of Lp(a) may underlie the clinical presentation of FH in children in whom no FH-causing mutation was found. FH, familial hypercholesterolaemia; LDL-C, LDL cholesterol; Lp(a), lipoprotein(a); mg/dL, milligrammes per deciliter.