Familial Hypercholesterolemia Familial Hypercholesterolemia, a very dangerous and deadly genetic disease, has the potential to be passed via the parents 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.
Ldl are responsible for transporting cholesterol from the site of its production in the liver to various parts of the bodys 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).
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Patients who suffer from homozygous FH have cholesterol levels between 700 to 1, 200 mg / d L, while those who suffer from heterozygous FH have cholesterol levels between 350 to 500 mg / d L.
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 xanthomas. 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 development of cardiac complications that often times results in an early death (Varret, 1999).
As large amounts of cholesterol begin to build up in the blood stream, it begins to form deposits inside the blood vessels. This condition is known as Arteriosclerosis, which effects the vessels of the body that carry oxygen rich blood from the heart to the rest of the body. The deposits, which are also known as plaque, are formed by the interaction of free radicals and LDL within the blood vessels (Familial, 1999).
The most common type of arteriosclerosis is atherosclerosis, an acquired heart disease with many severe complications. Atherosclerosis is a type of hardening and thickening of the medium and large sized arteries, which results in a loss of elasticity (Metabolism, 1999).
As large amounts of cholesterol-carrying lipoproteins are deposited on the lining of the arteries, the vessel channels begin to narrow and ultimately interferes with the flow of blood.
In addition to these fatty deposits, calcification may occur as well as the development of scar tissue. This results in extremely high blood pressure or hypertension for patients suffering from Familial Hypercholesterolemia. As these channels become even more narrow, blood clots begin to form over the rough walls of the artery, causing a condition known as thrombosis. Although these symptoms may occur in an artery of the body, atherosclerosis causes most of its damage by restricting blood flow to crucial areas of the body such as the heart, brain, kidneys, and legs (Metabolisms, 1999).
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When atherosclerosis effects the coronary arteries, heart attacks often occur as well as cases of ischemic heart disease. Both of these cases occur when their is not enough oxygen rich blood reaching the heart muscle because of the narrowing or blocking of the coronary artery by fatty deposits (Familial, 1999).
If the oxygen depletion is extreme a condition known as myocardial infarction may occur. This is when a section of the heart muscle dies, causing the crushing chest pains of a heart attack. However, if their is only a slight shortage of oxygen rich blood to the heart, a condition known as angina pectoris will develop. Angina pectoris is marked by a powerful squeezing sensation under the breastbone which often travels into the arm, lasting several minutes.
Atherosclerosis is also responsible for strokes in people suffering from FH. If the arteries to the brain are blocked, the decrease in blood flow and oxygen causes personality changes and mental confusion (Metabolism, 1999).
Thus, a stroke may occur when arteries weakened by atherosclerosis rupture, causing a complete halt of blood flow to the brain. Partial paralysis, loss of speech, and death are all possible consequences of the shortage of blood to the brain. In todays society, many people consume a diet high in fat and cholesterol without any knowledge of what they are subjecting their body to. People who suffer from Familial Hypercholesterolemia should serve as a lesson to those who feel that eating high levels of cholesterol will not effect their body (Familial, 1999).
Ultimately, those who do not suffer from Familial Hypercholesterolemia will suffer the same fate as those who consume a diet rich in cholesterol. The only difference coming in the fact that people with FH will face the consequences of their genetic disease within the first 15-30 years of their life (Bishop, 1994).
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However, for others who do not have this disease, they will face the same consequences within 40-70 years of their life. Complications such as strokes, heart attacks, pain of the angina pectoris, and the development of tendon xanthomas will haunt them for the rest of their lives.
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4. Varret, Mathilde. A Third Major Locus for Autosomal Dominant Hypercholesterolemia Maps to 1 p 34. 1-p 32. American Journal of Human Genetics 64 (1999): 1378-1387. ( Primary Research Publication).