familial hypercholesterolemia (fh) is an autosomal co-dominant disorder of lipid metabolism, caused by mutations in ldl receptor gene. the penetrance of fh is almost 100%, meaning that half of the offspring of affected parents born with disease. the patients are at risk of premature coronary heart disease (chd). there is no report about the molecular basis of fh in iran. identification of mutat...

This study investigates the pedigree of 508 individuals over five generations identified by an individual with hypertriglyceridemia, familial hypercholesterolemia, and a IIb lipoprotein electrophoretic phenotype. The sample of 378 living individuals studied extensively for risk factors and disease status was distributed among maternal (170) and paternal (176) relatives and the codescendants (32...

Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder with a very high prevalence of almost 1 in 200-500 people. Genetic testings have commonly revealed mutations genes namely LDLR, APOB, and PCSK9. In order to provide better management minimize the risk premature Coronary heart disease (CHD) affected people, early identification FH patients screening their first-degree r...

Background: Familial hypercholesterolemia (FH) is a frequent autosomal dominant disorder of lipoprotein metabolism. This disorder is generally caused by mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B 100 (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. In the present study, we aimed at identifying the common LDLR and APOB gene mutations in an Iran...

We followed 54 subjects with heterozygous familial hypercholesterolemia for an average of 10 (range 3-14) years. Half were treated surgically with partial ileal bypass and the other half (matched for age, sex, coronary heart disease, blood pressure, diabetes mellitus, smoking, obesity, and serum cholesterol concentration) were treated conservatively with diet and hypolipidemic drugs. The mean d...