hrp0092p3-297 | Late Breaking Abstracts | ESPE2019
Al-Ashwal Abdullah
, Al-Mansour Salman
, Al-Shagrani Mohammed
, Al-Gofi Talal
, Breuring Dieter
Introduction: Patients with homozygous familial hypercholesterolemia (HoFH) suffer from this disorder from birth and they have abnormally high cholesterol levels due to a disease that has autosomal dominant inheritance of genetic aberrations in the coding region for low density lipoprotein receptors (LDLR) in more than 90% of cases, other gene defect includes mutations in apolipoprotein B100 (apoB100) and proprotein convertase subtilisin/kexin type 9 (PCSK...