Familial Hypercholesterolemia Familial Hypercholesterolemia, a very dangerous and deadly genetic disease, has the potential to be passed via the parents DNA from one generation Although it is not common, people who suffer from this genetic flawoften times lead very short lives, as it increases their susceptibility to a wide rangeof other complications that can ultimately lead to death (Varret, 1999). Familial Hypercholesterolemia (FH) operates by not allowing cholesterol tomove into the cells via the blood stream. This is due directly to the fact thatprotein receptors on the surface of the cell responsible for the uptake of cholesterolare either damaged or not present. The mutation occurs in the DNA that encodesthe information for the structure of the LDL receptors (Metabolic, 1999). ThusLDL, known as Low Density Lipoprotein, slowly begins to accumulate and formdeposits in various parts of the body, where it ultimately begins to cause seriousside effects.LDLs are responsible for transporting cholesterol from the site of itsproduction in the liver to various parts of the bodys cells. Once it reaches itsdesignated target, the cholesterol is separated from its lipoprotein and used by thecell. However, because this mechanism is faulty in people who suffer from thisgenetic disease, unusually large amounts of LDL begin to build up in the bloodvessels (Familial, 1999). To compound this problem further, when sufficientlevels of cholesterol are registered within the cells, the cholesterol-synthesizingenzymes stop producing more cholesterol. However, since the cell never takes inthis cholesterol, the body believes there is a shortage, and continues to producemore (Metabolic, 1999). Patients who suffer from homozygous FH havecholesterol levels between 700 to 1,200 mg/dL, while those who suffer fromheterozygous FH have cholesterol levels between 350 to 500 mg/dL. These levelsare extremely high, as the average cholesterol level for a h...
