Characteristics and Vascular Complications of Familial Hypercholesterolemia in Korea

Genetics, Screening, and Treatment of Familial Hypercholesterolemia: Experience Gained From the Implementation of the Vietnam Familial Hypercholesterolemia Registry

“…The majority of FH individuals carried mutation in LDLR (85.7% of index cases and 96.8% in total), which is similar to that reported in previous studies (Soutar and Naoumova, 2007;Sjouke et al, 2015;Khera et al, 2016). We found that the exon mutations of LDLR were varied, which was also reported by a previous study in a Korean population (Lee, 2016). LDLR p.Asp227Glu (FH Afrikaner-1, FH Maine) missense variant, which occurs within repeat 5 of the ligand-binding domain of LDLR, has previously been identified (Kotze et al, 1993;Hooper et al, 2012;Sharifi et al, 2016).…”

Atherosclerotic cardiovascular disease burden in patients with familial hypercholesterolemia: interpretation of data on involvement of different vascular beds

“…7,15 A few newly identified risk factors, such as plasma Lp(a) concentration or increased concentrations of inflammation markers were shown to correlate with the extent of atherosclerosis or ASCVD risk in FH patients. 47, [57][58][59][60] The studies discussed above pointed out that atherosclerotic involvement in the coronary arteries and lower extremities is higher in FH patients than in the general population. There is a paucity of data regarding the relationship between FH and incidence of atherosclerosis in other vascular beds (FIguRE 1).…”

Individualized Treatment for Patients With Familial Hypercholesterolemia

“…5 ) and worldwide. 76 77 Based on the abovementioned information, the presence of pathogenic mutation in FH-gene ( LDLR or PCSK9 ) is associated with a higher risk for CAD. 41 However, accumulating evidence has shown differences in the effect of mutations (and their phenotypes) on LDL cholesterol levels among the different types of FH mutations.…”