Familial hypercholesterolemia (FH, OMIM number #143890), a life-threatening monogenic disorder characterized by high levels of low-density lipoprotein cholesterol (LDL-C), is classified into dominant and recessive types (1). The form FH may result from mutations in the LDLR, APOB, PCSK9 genes (2). However, receptor (LDLR) adaptor protein-1 (LDLRAP1) gene cause an autosomal inheritance pattern c...

Primary Hyperlipoproteinaemias Hyperchylomicronaemia (familial fatinduced hypertriglyceridaemia). This condition, which is characterized by gross accumulation of chylomicrons in the serum due to defective clearing of dietary fat, was first described by Burger and Grutz in 1932. Cases have since been recorded under a variety of names, the most common being 'idiopathic familial hyperlipaemia' and...

This review assesses current knowledge of the clinical, genetic, and biochemical features of familial high density lipoprotein (HDL) deficiency syndromes. The focus is on HDL deficiency states occurring In the absence of severe hypertrlgiycerldemia or lecithin/cholesterol acyltransferase deficiency. Specific entities falling within this category Include Tangier disease, familial HDL deficiency ...

Statins have been shown to be very effective and safe in numerous randomized clinical trials, and became the implacable first-line treatment against atherogenic dyslipidemia. However, even with optimal statin treatment, 60% to 80% of residual cardiovascular risk still exists. The patients with familial hypercholesterolemia which results in extremely high level of low density lipoprotein cholest...

OBJECTIVE To determine whether garlic extract therapy is efficacious and safe in children with hypercholesterolemia. DESIGN Randomized, double-blind, placebo-controlled clinical trial. SETTING Specialized pediatric lipid disorders ambulatory clinic. PARTICIPANTS Thirty pediatric patients, aged 8 to 18 years, who had familial hyperlipidemia and a minimum fasting total cholesterol level gre...

OBJECTIVE To assess the risk factors, lipid and apolipoprotein profile, hemostasis variables, and polymorphisms of the apolipoprotein AI-CIII gene in early coronary artery disease (CAD). METHODS Case-control study with 112 patients in each group controlled by sex and age. After clinical evaluation and nutritional instruction, blood samples were collected for biochemical assays and genetic stu...

A case of apolipoprotein B-related disorder is reported in which liver fibrosis developed without long term administration of medium chain triglycerides, previously incriminated in the pathogenesis of this lesion. The patient was a young woman in whom the diagnosis of familial homozygous hypobetalipoproteinaemia was made at the age of 21. A first liver specimen taken at diagnosis revealed steat...

Familial hypercholesterolemia (FH) is a common genetic cause of elevated low-density lipoprotein cholesterol (LDL-C) due to defective clearance circulating LDL particles. All FH patients are at high risk for premature cardiovascular disease (CVD) events their genetically determined lifelong exposure LDL-C levels. However, different rates CVD have been reported in patients, even among those with...