Genetically Inherited Hypercholesterolemia - A Highly Problematic Disorder


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Hypercholesterolemia (excessive body production of cholesterol) affects millions of people worldwide, rendering afflicted persons susceptible to developing serious conditions such as coronary disease and atherosclerosis. Although it is commonly known to be the consequence of inappropriate diet, obesity and sedentary lifestyle, hypercholesterolemia sometimes defies stereotypes, affecting people who don’t fit the average profiles. Sometimes hypercholesterolemia is neither the result of diet nor imbalanced lifestyle, having a pronounced intrinsic character instead.

In certain categories of people, high blood cholesterol levels are the consequence of genetically-inherited physiological dysfunctions which lead to either overproduction of cholesterol inside the organism or under-excretion of the substance from the body. Regardless of their efforts, people who suffer from inherited hypercholesterolemia are unable to maintain normal cholesterol values. Even statins or other commonly prescribed cholesterol-lowering medications that work well for most people with abnormal cholesterol levels fail to produce satisfactory results among people with inherited hypercholesterolemia. Due to low responsiveness to existent medications and therapies, people who suffer from inherited hypercholesterolemia eventually develop heart disease and other serious conditions associated with high blood cholesterol levels.

Cholesterol is a waxy substance produced by the liver and used inside the body for various physiological purposes. Cholesterol has an important role in cellular activity, protecting blood cells from damage by covering their superficial membranes. In addition, cholesterol is used inside the body for producing hormones such as testosterone and estrogen. Despite its beneficial merits inside the organism, cholesterol can also cause a lot of harm when it accumulates in large amounts and deposits inside arteries, obstructing normal blood flow and preventing the irrigation of internal organs. When it deposits inside coronary arteries, cholesterol dramatically increases the risk for heart-attack, hypercholesterolemia being renowned as one of the leading risk factors for heart failure. Hypercholesterolemia also leads to atherosclerosis and various other serious conditions.

There are three major distinctive types of cholesterol: high-density lipoprotein (HDL), low-density lipoprotein (LDL) and very low-density lipoprotein (VLDL). High-density lipoprotein is known as “good cholesterol”, while low-density lipoprotein is considered to be “bad cholesterol”. LDL is the type of cholesterol responsible for interfering with normal blood circulation by sticking to artery walls and causing the formation of a hard plaque. Although it is considered to be less dangerous, VLDL is also a risk factor for heart disease, as it can eventually become LDL. By contrast, HDL (good cholesterol) neutralizes the harmful effects of LDL and VLDL by mixing with these substances and taking them back to the liver, where they are broken down.

While a healthy body produces enzymes that regulate the production of cholesterol, maintaining the balance between HDL, LDL and VLDL, certain genetic dysfunctions characteristic to inherited hypercholesterolemia cause cholesterol-regulating enzymes to malfunction, generating serious imbalances in the composition of cholesterol. Unlike healthy people, patients who suffer from inherited hypercholesterolemia generally have very low levels of good cholesterol and dangerously high levels of bad cholesterol. This imbalance causes serious damage to the organism, even becoming fatal under certain circumstances.

Despite the efforts invested by medical scientists in order to discover an appropriate treatment for inherited hypercholesterolemia, there is no 100 percent effective cure for this type of disorder in present. While dietary changes, lifestyle improvements and treatments with statin drugs are efficient in overcoming cholesterol problems among people with life-acquired hypercholesterolemia, people who suffer from inherited (familial) hypercholesterolemia don’t respond to the drugs and therapies available in present.

Medical scientists are currently working at a new type of drug, which is expected to completely overcome cholesterol problems among inherited hypercholesterolemia sufferers in the future. Unlike cholesterol-lowering medications available in present, which act by reducing the levels of bad cholesterol, the new drug will aim to increase the levels of good cholesterol instead. By stimulating the production of additional quantities of HDL at the level of the liver, the new drug will help the body excrete the excess of bad cholesterol naturally.

Although this revolutionary drug is expected to be very effective in overcoming cholesterol problems among people with inherited hypercholesterolemia, it may take a while until the drug will be finally released on the market. The medication is currently in its development stage and it is soon expected to enter its trial stage. However, its developers are optimistic that they will be able to launch the pharmaceutical product on the market in a couple of years.

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