The genetic disease of familial hypercholesterolemia Familial hypercholesterolemia, a very dangerous and deadly genetic disease, can potentially be transmitted through parental DNA from one generation to the next. Although it is not common, people suffering from this genetic defect often lead very short lives, as it increases their susceptibility to a wide range of other complications that can ultimately lead to death (Varret, 1999). Familial hypercholesterolemia (FH) works by not allowing cholesterol to enter cells through the bloodstream. This is directly due to the fact that the protein receptors on the surface of the cell responsible for the absorption of cholesterol are damaged or not present. The mutation occurs in the DNA that encodes information for the structure of LDL receptors (Metabolic, 1999). Therefore LDL, known as low-density lipoprotein, slowly begins to accumulate and form deposits in various parts of the body, where it eventually begins to cause serious side effects. LDL is responsible for transporting cholesterol from the site of production in the liver to various parts of the body. cells. Once the designated target is reached, the cholesterol is separated from its lipoprotein and used by the cell. However, because this mechanism is defective in people suffering from this genetic disease, unusually large amounts of LDL begin to accumulate in the blood vessels (Familial, 1999). To further compound the problem, when sufficient levels of cholesterol are recorded in the cells, the enzymes that synthesize cholesterol stop producing more cholesterol. However, because the cell never absorbs this cholesterol, the body believes there is a deficiency and continues to produce more (Metabolic, 1999). Patients suffering from homozygous FH have cholesterol levels between 700 and 1,200 mg/dL, while those suffering from heterozygous FH have cholesterol levels between 350 and 500 mg/dL. These levels are extremely high, as the average cholesterol level for a healthy man is close to 200 mg of cholesterol per 100 cc of blood plasma (Familial, 1999). Therefore, an extremely high cholesterol level is often one of the first indicators that a person may be suffering from familial hypercholesterolemia. One of the most obvious effects of familial hypercholesterolemia is the development of tendon xanthomanus. Xanthomas are extremely painful lesions caused by large deposits of cholesterol in many parts of the body. The most common place for them to occur are the tendons of the hands and the eyelids (Metabolic, 1999). However, the biggest risk that people with this disease face is the