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Saturday, December 20, 2014

Familial Hypercholesterolemia - High Cholesterol

What is hypercholesterolemia ?

Hypercholesterolemia is a metabolic disorder in which a too high content of cholesterol in the blood is present. Hypercholesterolemia is partly for the inherited condition "familial hypercholesterolaemia".

Cholesterol is a waxy, water-soluble substance that is used as a building block in our body. It is an indispensable substance for the human body. However, too much cholesterol is bad for health. It can accumulate in the interior of the walls of blood vessels in the form of plaques (= atheromatous plaques). These arteries can clog result (= arteriosclerosis), ultimately cardiovascular disease can arise (atherosclerosis).

Good and bad cholesterol

Often speak of good and bad cholesterol. In fact, this distinction is unjustified. Indeed, there is only one type of cholesterol, which is neither good nor bad. In reality, cholesterol in the blood is not substantially in its free form, but always in connection with transport proteins that one called apoproteins. Due to the connection between an apoprotein and a lipid creates a lipoprotein, which makes the lipid soluble in the blood. Two lipoproteins are of particular importance when it comes to cholesterol: low-density lipoproteins (LDL) and high density lipoproteins (HDL).

LDL is intended primarily for the transport of cholesterol from the liver to the other organs. The cholesterol bound to LDL (LDL-c) can then be deposited in the blood vessels - hence its reputation of bad cholesterol. Once deposited in the arteries, after all, it contributes to the creation or expansion of atheromatous plaques. Therefore they called LDL-C also atherogenic. When a crack or chip, atheroma, which contributes to the formation of clots in that they may block the small vessels which leads to a heart attack or stroke.

The role of HDL, HDL is more complex, it plays a role in inflammation, infections, blood clotting, and still more processes: HDL helps to transport cholesterol back to the liver. (Bound to HDL cholesterol is also referred to as HDL-c.) For this purpose it is a compound with ATPbinding cassette transporter A1 (ABCA1) and / or with the scavenger receptor B1 (SR-B1). The result is that the cholesterol to the cells, mainly macrophages and foam cells, is drawn out. ApoA-I and to a lesser extent, apo AII-assist in the transport of cholesterol to the liver. This is probably the most important process in which HDL is involved, in so far as it comes to reducing the risk of atherosclerosis. Note that this process can occur only with very complex techniques, usually in-vitro study. No one has the year 2008 may prove really good that HDL removes cholesterol from the arteries actually. HDL is also called "good" cholesterol, because to prevent a larger amount of HDL in the blood helps cardiovascular diseases.

Numerous studies have shown that an increased LDL content increases the risk of a heart attack. Therefore, the lowering of the LDL (or more specifically the LDL-c) the main goal in the treatment of a hypercholesterolemia. Direct measurement of the LDL-c is difficult. Usually, the amount of LDL-c is thus determined by calculation on the basis of the total cholesterol levels, the HDL-C and triglycerides (another lipid form), which can be measured or easy.


In addition to LDL and HDL cholesterol is thus also the triglyceride content of the blood of interest. Triglyceride is another word for fat. When the level of triglycerides in the blood is too high, the risk of cardiovascular problems has also increased. This is because triglycerides, as well as LDL cholesterol, adhere to the walls of blood vessels.

Causes of High Cholesterol

Causes of high cholesterol levels in the blood are:

-Diabetes mellitus
-Excess body weight
-Eating (partially) hydrogenated fat (hardening occur much trans fats)
-Eating a lot of saturated fats
-Cholesterol-rich foods
-Underactive thyroid
-Side effect of certain medications

Cholesterol and cardiovascular disease

familial hypercholesterolemia, high cholesterol, cardiovascular disease

Elevated cholesterol levels in the blood are associated with an increased risk for cardiovascular disease (CVD). However, the occurrence of cardiovascular disease is not so much dependent on the cholesterol concentration as upon the presence of other risk factors. Smoking, hypertension and diabetes mellitus cause minor damage to the inside of blood vessels. At the location of these lesions are macrophages that LDL cholesterol can record, which can lead to the formation of atheromatous plaques. In people with risk factors such as high blood pressure, a previous heart attack or stroke, or diabetes is therefore already demonstrated that lowering cholesterol to a significant reduction (tens of percent) in the incidence of heart disease, the mortality resulting from cardiovascular disease and total mortality. Whether it makes sense to reduce the cholesterol in otherwise healthy people with high cholesterol is a very controversial topic.

For a correct interpretation of possible harmful effects of cholesterol, the ratio between the total cholesterol and the HDL cholesterol - the so-called "total cholesterol / HDL ratio - can be determined. Because of the individual biological variability and random measurement error a single measurement is sometimes insufficient. The current (2006) NHG 'cardiovascular risk' requires that values around the therapeutic threshold cholesterol and related values after at least a week to be determined again; otherwise, a single fasting glucose level is sufficient.

By eating cholesterol-depleted foods, unsaturated fats and dietary cholesterol levels in the blood may be reduced somewhat. Through the use of certain foods with plant sterols some more. Bile acids, which consist of cholesterol-like compounds, bind to the dietary fiber. This makes the re-uptake of the bile acids in the intestine, and less remains a larger amount of these substances in the back of the faeces. As a result, more cholesterol in the liver is used to make new bile acids. Weight reduction in obesity will lead to a decrease in the LDL-cholesterol and increase the HDL-cholesterol. Sometimes cholesterol-lowering drugs recommended, this is always a tradeoff between the probability of disease, the size of the expected impact and the degree of risk reduction to achieve, and the cost of the medicines. For this many tables and calculation rules are established and reviewed periodically.


A small group of scientists, united in The International Network of Cholesterol Skeptics claims be interpreted systematically wrong in the medical research. Therefore patients would have wrongly prescribed statins and should follow a diet unattractive. The reduction of cholesterol often leads to loss of quality of life. The group skeptics argues that the treatment is partly therefore undesirable. Critics bring counters that a diet is usually not prescribed and that serious side effects of cholesterol-lowering drugs are very rare; the much more frequent muscle complaints are naturally scented and then, if desired, stop using it.

The motive for distorting the facts would be that virtually all research is funded by parties who have commercial interest in cholesterol culprit. The television program Tros Radar spent in the broadcast of March 5, 2007 attention to the skeptics. There is a commitment by the Department that an independent inquiry. From mainstream medicine is the broadcast of TROS sharply criticized.

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