Familial defective apolipoprotein B-100 (FDB) and familial hypercholesterolemia (FH) are the common causes of monogenic primary hypercholesterolemia. An individual of mixed English and Afrikaner descent with both FDB and the FH Afrikaner-1 low-density lipoprotein receptor mutation was identified in our laboratory. Subsequent analysis of her extended family revealed the presence of heterozygotes...

The data in this relies on a previous publication: "Altered leukocyte distribution under hypercholesterolemia: a cross-sectional study in children with familial hypercholesterolemia" (Christensen et al. 2016) [1]. In the present paper, whole blood leukocyte distribution and plasma inflammatory proteins were measured for association with cholesterol concentration and CRP in children with familia...

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...

familial defective apolipoprotein (apo) b 100 (fdb) causes early-onset coronary heart diseases (chd). it is produced by r3500q mutation of the apob gene resulting in decreased binding of ldl to ldl receptor. we screened the apo b gene for r3500q mutation in 130 hypercholesterolemic patients, among whom 30 patients met criteria of familial hypercholesterolemia (fh). the prevalence of r3500q alle...

Familial Hypercholesterolemia (FH) is a genetic disorder, an expression of defect in the gene that responsible for production LDL-C receptor. The current study was designed to determine FH patients city Sulaymaniyah both sexes. included 213 samples, number males 99 and females 114, sexes ranged from (30-79) years.The results cholesterol, triglyceride, high density lipoprotein (HDL-C), low-densi...

The diagnosis of familial hypercholesterolemia by genetic testing is hampered by its cost and effectiveness [1] in many parts of the world including Africa. Familial Hypercholesterolemia (FH) is a common cause of premature cardiovascular disease and is often undiagnosed in young people [2]. The principal metabolic causes of atherosclerosis include hyperlipidemia, hypertension, obesity, insulin ...

Introduction: FH is an autosomal dominant disease of lipid metabolism. Hypercholesterolemia, xanthomas, and death from early coronary artery (CAD) are common in this due to a mutation the LDLR, Apo-B100 or PCSK9 genes. Case report: A 4-year-old male patient with very rare heterozygous c.1730G > C (p.Trp577Ser) variation exon 12 low-density lipoprotein receptor (LDLR) gene that causes familia...

Familial hypercholesterolemia (FH) is an autosomal disorder characterized by increased levels of total cholesterol and low density lipoprotein cholesterol. The FH clinical phenotype has been shown to be associated with increased coronary heart disease and premature death. Mutations in the low density lipoprotein receptor gene (LDLR) can result in the FH phenotype, and there is evidence that rec...

Familial hypercholesterolemia (FH) is a common but commonly missed diagnosis. Tendon xanthomas are a physical sign strongly suggestive of FH. Physicians must identify tendon xanthomas, apply validated clinical scoring such as the Dutch Lipid Clinic Network criteria and offer cascade screening. This approach will increase recognition of FH.