The Genetic Disease Familial Hypercholesterolemia

The Genetic Disease Familial Hypercholesterolemia

Familial Hypercholesterolemia, a very dangerous and deadly genetic

disease, has the potential to be passed via the parent’s DNA from one generation

to the next. Although it is not common, people who suffer from this genetic flaw

often times 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) operates by not allowing cholesterol to

move into the cells via the blood stream. This is due directly to the fact that

protein receptors on the surface of the cell responsible for the uptake of cholesterol

are either damaged or not present. The mutation occurs in the DNA that encodes

the information for the structure of the LDL receptors (Metabolic, 1999). Thus

LDL, known as Low Density Lipoprotein, slowly begins to accumulate and form

deposits in various parts of the body, where it ultimately begins to cause serious

side effects.

LDLs are responsible for transporting cholesterol from the site of its

production in the liver to various parts of the body’s cells. Once it reaches its

designated target, the cholesterol is separated from its lipoprotein and used by the

cell. However, because this mechanism is faulty in people who suffer from this

genetic disease, unusually large amounts of LDL begin to build up in the blood

vessels (Familial, 1999). To compound this problem further, when sufficient

levels of cholesterol are registered within the cells, the cholesterol-synthesizing

enzymes stop producing more cholesterol. However, since the cell never takes in

this cholesterol, the body believes there is a shortage, and continues to produce

more (Metabolic, 1999). Patients who suffer from homozygous FH have

cholesterol levels between 700 to 1,200 mg/dL, while those who suffer from

heterozygous FH have cholesterol levels between 350 to 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). Thus, an

extremely high level of cholesterol is often times one of the first indicators that a

person may suffer from Familial Hypercholesterolemia.

One of the most obvious effects of Familial Hypercholesterolemia is the

development of tendon xanthoman. Xanthomas are extremely painful lesions that

are caused by large cholesterol deposits is many parts of the body. The most

common place for these to occur are in the tendons of the hands as well as the

eyelids (Metabolic, 1999).

However, the greatest risk that people with this disease face is the