BACKGROUND Familial hypercholesterolemia is an autosomal dominant disorder, caused by mutation in Low-density lipoprotein receptor (LDL-R) gene. METHODS Cross-sectional study conducted to recruit the population of Karachi-Pakistan, screened for familial hypercholesterolemia. A total of 1523 hypercholesterolemic individuals have taken part in the study, five were found to be familial hyperchol...

A young girl, age 8.5 years, presented with profound hypercholesterolemia and early xanthomatosis, suggesting homozygous familial (or type II) hypercholesterolemia. The patient's low density lipoprotein (LDL) receptor function and parental lipoprotein profiles were determined to be normal, prompting revision of the initial diagnosis to pseudohomozygous familial hypercholesterolemia. When she su...

background and objective: familial hypercholesterolemia (fh) is an autosomal trait, which is caused by mutations in low density lipoprotein receptor (ldlr) gene. fh penetrance is about 100% and worldwide prevalence for heterozygous subjects is almost 1 in 500 and for homozygous 1 in 1,000,000. the patients are at risk of premature coronary heart disease (chd) due to defective ldlr and hence cho...

Hypercholesterolemia is a common disorder in adult population, but total cholesterol concentrations beyond 1000 mg/dl occur rarely, and are found in patients with homozygous familial hypercholesterolemia and familial lecithin-cholesterol acyltransferase deficiency, in chronic graft-versus-host disease of the liver, after intravenous infusion of fat emulsion (intralipid), in newborn infants with...

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...

In heterozygous familial hypercholesterolaemia the cumulative risk of a fatal or non-fatal coronary event by the age of 60 without effective treatment is at least 50% in men and about 30% in women. 2 The prognosis has improved substantially with widespread use of statins for lipid lowering. The estimated occurrence of the condition is about 1 in 500. We aimed to determine the prevalence of diag...

----------------------------INDICATIONS AND USAGE ---------------------------ZOCOR is an HMG-CoA reductase inhibitor (statin) indicated as an adjunctive therapy to diet to: • Reduce the risk of total mortality by reducing CHD deaths and reduce the risk of non-fatal myocardial infarction, stroke, and the need for revascularization procedures in patients at high risk of coronary events. (1.1) • R...

----------------------------INDICATIONS AND USAGE ---------------------------­ ZOCOR is an HMG-CoA reductase inhibitor (statin) indicated as an adjunctive therapy to diet to: • Reduce the risk of total mortality by reducing CHD deaths and reduce the risk of non-fatal myocardial infarction, stroke, and the need for revascularization procedures in patients at high risk of coronary events. (1.1) •...