Sökning: "Familial hypercholesterolemia"

Visar resultat 1 - 5 av 7 avhandlingar innehållade orden Familial hypercholesterolemia.

  1. 1. Familial hypercholesterolemia in Sweden : genetic and metabolic studies

    Författare :Suzanne Lind; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Familial hypercholesterolemia; LDL receptor gene mutations; LDL cholesterol; bile acids; autosomal recessive hypercholesterolemia; growth hormone; LDL clearance.;

    Sammanfattning : Familial hypercholesterolemia (FH) is inherited as an autosomal codominant disease, usually caused by mutations in the LDL receptor (LDLR) gene. Heterozygous FH is a common disease with a prevalence of about 1/500 in most populations. Clinically, FH is characterized by elevated LDL cholesterol, tendon xanthomas and premature atherosclerosis. LÄS MER

  3. 2. Familial hypercholesterolemia in Sweden : genetic and clinical studies

    Författare :Peter Benedek; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Prevention of premature disease and death from cardiovascular complications of atherosclerosis is an important goal for public health, and the early identification of individuals with increased risk is an important goal of modern medicine. Familial hypercholesterolemia (FH) is one of the most common monogenic diseases (1/250 to 1/300) where strong evidence of positive health effects of intervention has been established. LÄS MER

  4. 3. Mutation Analysis and Hypercholesterolemia: Studies in FH patients and in healthy middle-aged men with high, low, or increasing cholesterol levels during a six-year follow-up (the CRISS study)

    Författare :Ulf Ekström; Avdelningen för klinisk kemi och farmakologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Klinisk kemi; Clinical chemistry; LDL receptor; Mutation; risk factor; FH; familial hypercholesterolemia;

    Sammanfattning : Our aims were to characterize familial hypercholesterolemia (FH) in a Swedish FH population and to further elucidate the clinical expression and treatment response in relation to genotype. Secondly, we wanted to identify gene variants, which may have impact on cholesterol levels in apparently healthy subjects. LÄS MER

  5. 4. Hereditary hypercholesterolemia and cardiovascular disease : functional and epidemiological aspects

    Författare :Tigist Wodaje; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Background. Individuals with familial hypercholesterolemia (FH) and/or high levels of lipoprotein(a) [Lp(a)] are genetically predisposed to develop early cardiovascular disease (CVD). LÄS MER

  7. 5. The importance of arginase for vascular dysfunction in patients with glucose and lipid abnormalities

    Författare :Oskar Kövamees; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Introduction: Endothelial dysfunction is one important mediator behind atherosclerosis. Maintained bioavailability of nitric oxide (NO) is critical to keep the fragile balance of endothelial function. Reduced NO arise from reduced production or increased elimination of NO. LÄS MER