Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship [Original Articles]

Conclusions—
HoFH frequency in Spain was higher than expected. Clinical criteria would underestimate the actual prevalence of individuals with genetic HoFH, highlighting the importance of genetic analysis to improve familial hypercholesterolemia diagnosis accuracy.

Source: Circulation: Cardiovascular Genetics - December 19, 2016 Category: Cardiology Authors: Sanchez-Hernandez, R. M., Civeira, F., Stef, M., Perez-Calahorra, S., Almagro, F., Plana, N., Novoa, F. J., Saenz-Aranzubia, P., Mosquera, D., Soler, C., Fuentes, F. J., Brito-Casillas, Y., Real, J. T., Blanco-Vaca, F., Ascaso, J. F., Pocovi, M. Tags: Lipids and Cholesterol, Genetics, Atherosclerosis Original Articles Source Type: research