Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries

Familial hypercholesterolaemia (FH) is commonly caused by mutation in the LDLR, APOB or PCSK9 genes, with untreated mean low density lipoprotein-cholesterol (LDL-C) concentrations being elevated in APOB mutation carriers, even higher in LDLR mutation and highest in those with a PCSK9 mutation. Here we examine this in children with FH from Norway, UK, The Netherlands, Belgium, Czech Republic, Austria, Portugal and Greece.

Source: Atherosclerosis - January 12, 2021 Category: Cardiology Authors: Marta Futema, Uma Ramaswami, Lukas Tichy, Martin P. Bogsrud, Kirsten B. Holven, Jeanine Roeters van Lennep, Albert Wiegman, Olivier S. Descamps, Anne De Leener, Elodie Fastre, Michal Vrablik, Tomas Freiberger, Harald Esterbauer, Hans Dieplinger, Susanne G Source Type: research