Familial hyper- cholesterolemia:

Familial hypercholesterolemia is an inherited disorder in those homozygotes has a markedly elevated level of cholesterol in their blood; whilst in heterozygotes the stages is double that of ordinary individuals. Not only does this result in the deposition of cholesterol in the skin as yellow nodules known as xanthomas, but also in the creations of atheromas which can cause death from myocardial infarction in during childhood. An molecular defect in familial hypercholesterolemia is the lack of functional LDL receptors. Therefore, the LDL cholesterol cannot be taken up through the tissues and results in a high concentration in the blood. Homozygotes can be treated through liver transplantation, although heterozygotes can be treated through inhibiting HMG CoA reductase with lovastatin and decreasing the intestinal re-absorption of bile salts, by decreasing the blood cholesterol level.