Familial hypercholesterolemia

Familial hypercholesterolemia is characterized by a high :plasma LDL-choles terol level. The low-density particles are the end-product of the triglycer ide-rich particles, i.e, VLDL, synthetized: by. the liver. These triglyceri de-rich particles are subsequently transformed into intermediate density li poprotein by the lipoprotein lipase and LDL after further triglyceride hydr olysis by the hepatic lipase. The LDL particles are taken up in all cells b y the mean of the LDL receptor. A large body of evidence (including experim ental, clinical, epidemiological data as well as the results of large trial with lipid lowering drugs) has accumulated to establish that these particl es are one of the major causative factor of atherosclerosis and its complic ations, Two different mechanisms may be at work in the familial hypercholes terolemia: a mutation in the LDL receptor or a single mutation in the apoli poprotein B100, Specific therapeutic intervention should be undertaken to decrease the risk to develop cardiovascular disease, mainly coronary heart disease, The ther apeutic intervention includes both a diet low in saturated fatty acids and cholesterol and statins which are now the first line therapy. Fibrates are proposed to those who do not tolerate statins and LDL-apheresis is associat ed to statin in the rare homozygous familial hypercholesterolemia.