BACKGROUND Familial hypercholesterolemia (FH) is a serious genetic disorder affecting approximately 1 in every 300 to 500 individuals and is characterised by excessively high low-density lipoprotein (LDL) cholesterol levels, substantially increased risk of early-onset coronary heart disease (CHD) and premature mortality. If FH is untreated, it leads to a greater than 50 % risk of CHD in men by ...

Epidemiological studies indicate that high midlife plasma cholesterol levels increases the risk of Alzheimer's disease. Moreover, middle-aged familial hypercholesterolemia (FH) subjects show a particularly high incidence of mild cognitive impairments (MCI). These evidence points to hypercholesterolemia as one of the modifiable risk factors focused on prevention/treatment of cognitive deteriorat...

Platelet-activating factor-acetylhydrolase (PAF-AH) is a lipoprotein-associated phospholipase A2 capable of hydrolyzing platelet-activating factor (PAF) and oxidatively modified phospholipids. We studied the plasma- and lipoprotein-associated PAF-AH activity in patients with primary hypercholesterolemia. Thirty-eight unrelated patients with heterozygous familial hypercholesterolemia (HeteroFH),...

Familial hypercholesterolemia (FH) is associated with premature atherosclerotic cardiovascular diseases, and is inherited as an autosomal dominant trait. The prevalence of heterozygous FH is one in five hundred people. Owing to dysfunctional low density lipoprotein (LDL) receptors due to genetic mutations, serum low density lipoprotein-cholesterol (LDL-C) levels are considerably increased from ...

Background and aimsIn familial hypercholesterolemia (FH), statin treatment should be considered from 8 to 10 years of age, but the prevalence use among children is not known.MethodsStatin (2008–2018) aged 10–14 15–19 was obtained national prescription databases in Norway, Sweden Denmark. We assumed that all users these age groups had FH, estimated FH 1 250 inhabitants. Changes rates between 200...

BACKGROUND AND AIMS Pregnancy exerts metabolic changes with increasing levels of total cholesterol and triglycerides as prominent features. Maternal hypercholesterolemia may thus contribute to an unfavorable in utero environment potentially influencing the susceptibility of adult cardiovascular disease in the offspring. We investigated the impact of maternal familial hypercholesterolemia (FH) o...

Familial hypercholesterolemia (FH) is a genetic disorder of lipoprotein metabolism characterized by high plasma concentrations of low-density lipoprotein cholesterol (LDLc), tendon xanthomas, and increased risk of premature coronary heart disease. FH is one of the most common inherited disorders; there are 10,000,000 people with FH worldwide, mainly heterozygotes. The most common FH cause is mu...

‐ Genetic disease often goes undiagnosed until symptoms become severe. – ‐ Earlier this year, a group of people affected by FH led an effort to establish the FH Foundation as the first patient organization in the United States to focus on the needs of people living with familial hypercholesterolemia (FH). The mission of the FH Foundation is to help more people learn about FH through education, ...

Familial hyperlipidemia (FH) is an inherited metabolic disorder caused by low-density lipoprotein (LDL) receptor abnormality. The delayed clearance of serum LDL results in severe hypercholesterolemia, which leads to the accumulation of LDL-derived cholesterol in skin, tendons, and arterial walls.In homozygous form of the disease, severely atheromatous involvement of the aorta extending to the c...

The Blueprint Genetics Hyperlipidemia Panel is ideal tool for genetic analysis of patients with virtually any type of monogenic (Mendelian inheritance) dyslipidemia disorder. All classical familial hypercholesterolemia (FH) genes (APOB, LDLR, LDLRAP1 and PCSK9) as well as genes associated with other hyperlipidemias such as ‘type 3 hyperlipidemia’ (APOE), sitosterolemia (ABCG5, ABCG8), lipoprote...