Familial Hypercholesterolemia (FH)

Dyslipidemia is characterized by increased total cholesterol levels, low-density lipoprotein-cholesterol levels (LDL-C), triglyceride levels (TG), and low high-density lipoprotein-cholesterol levels (HDL-C) (1). Most of the cholesterols in the body (60-70%) are transported to liver cells in the form of LDL-C through direct interaction with specific LDL receptors (1). Dietary intake of foods that are high in cholesterol and saturated fats (such as egg yolk, butter, fast food) activates a feedback mechanism which lowers the activity of LDL receptors. As a consequence, LDLs are no longer being efficiency recycled to the liver and plasma LDL levels increased dramatically (1). The excess circulating LDLs are able to migrate through endothelial

According to the Merck Manual (2013), hyperlipidaemia is the increased synthesis of hepatic lipoproteins. Marieb (2012) explains that lipoproteins enable fat, fatty acids and cholesterol to circulate in the blood stream. They cannot do this alone due to their insolubility so they use lipoproteins as a type of transport. Nelson (2013) highlights four different varieties of lipoproteins which are chylomicrons, very low density lipoproteins (VLDL), low density lipoproteins (LDL) and high density lipoproteins (HDL).

In a study conducted in 1985 observing primates, it was determined that the major effect of dietary cholesterol is its LDL raising effects. High intakes of cholesterol increase the number of circulating LDL’s and it can also change its size and composition. [12] It was during this time period that the mechanisms by which SFA are thought to increase blood cholesterol concentrations came about. One mechanism for the increase in LDL cholesterol levels is the suppression of LDL receptor activity. Studies in tissue cultures have shown that increasing the cholesterol content of a cell will down-regulate synthesis of LDL receptors. [13] This will lead to an increase in concentration of blood cholesterol. Another cause for an increase in blood cholesterol concentration through intake of dietary SFA is the composition of the newly secreted lipoproteins. With a high saturated fat intake, the LDL’s become rich in cholesterol esters, leaving the triglycerides in the blood. [14] The use of non-human primates in

Our body naturally produces cholesterol through the liver, we can also obtain cholesterol from consumed products. We need small amounts of cholesterol to produce hormones, bile, and vitamin D. Cholesterol doesn’t dissolve in the bloodstream once it is inside the body. It needs to be carried by two types of lipoproteins called low density lipoproteins(LDL) and high density lipoproteins(HDL). The more cholesterol we consume, the more LDL and HDL we produce. HDL is

High cholesterol is a dangerous disease that can lead to many life-threatening ailments, and can be lowered by eating healthy, while maintaining a balanced diet of leveled cholesterol. Cholesterol, the sleek-fat like substance that roams in the blood of a body. It is vital to life, but when there is too much intake of cholesterol, it can cause the body to malfunction and cause problems. There are two types of cholesterol HDL and LDL, which varies in the amount of protein and cholesterol it holds Too much cholesterol in a body is dangerous, and surprisingly, has no symptoms. The two main types of cholesterol are HDL and LDL, HDL helps reduce the chances of chronic heart disease, whereas LDL is the main reason for plaque build-up in artery

A routine cholesterol screening involves a simple blood test. An LDL number of 190 mg/dL is considered high, but an HDL level below 40 mg/dL is too low and is a risk for heart disease. The levels of both HDL and LDL are added together for a total cholesterol number. The risk breakdown for the levels are;

Heterozygous familial hypercholesterolemia current drug therapy statins, bile acid sequestrates, or other lipid lowering agents that lower cholesterol levels with relative success. Homozygous familial hypercholesterolemia (HoFH) is not treated well with standard lipid-lowering medications and needs costly methods to lower LDL-like apheresis or a liver transplant. HoFH occurs approximately 1 in 1 million births, creating a small population to gather data about treatments for this rare disease state. 1 Studies have shown that the best role of Juxtapid in familial hypercholesterolemia is as adjunctive therapy

HDL, high-density lipoprotein, is sometimes called the ‘good ’cholesterol because “it helps remove LDL cholesterol from the arteries. Experts believe HDL acts as a scavenger, carrying LDL cholesterol away from the arteries and back to the liver, where it is broken down and passed from the body. One- fourth to one-third of blood cholesterol is carried by HDL. A healthy level of HDL cholesterol may also prevent against heart attack or stroke, while low levels of HDL cholesterol have been shown to increase the risk of heart disease” (http://www.heart.org/HEARTORG/Conditions/Cholesterol).

Cardiovascular disease, including stroke and sudden cardiac death, is the leading cause of death in the world population, representing 30% of all deaths in 2008 (Wung et al., 2013). Understanding genetic variations related to cardiovascular disease is a tremendous undertaking because common forms of Cardiovascular disease seem to be impacted by many factors, including multiple gene involvement and environmental influence (Wung, 2013). Wung et al. (2013) focused on three areas of cardiovascular disease and reviewed the genetic research that has been done, the findings and the relevance of genetic testing. Wung et a. (2013), report that there is evidence to support coronary artery disease (CAD) and myocardial infarctions (MI) having traits that

Hypercholesterolemia is both a dominant and recessive disorder. The genotypes for the dominant disorder would be heterozygous and for the recessive disorder the genotype would be a Homozygous recessive. The two genotypes in the hypercholesterolemia disorder represent the severity of its affects will be. Both of heterozygous and homozygous version of hypercholesterolemia cause a loss of low density lipoproteins. Low density Lipoproteins are receptors in the liver cell that breaks down cholesterol carried in the blood, the loss of lipoproteins can cause severe consequences in an individual. In a heterozygous version of hypercholesterolemia an individual would have blood levels that are twice than normal due to the loss of lipoproteins. This would cause an individual to have an increase in cholesterol build up in the artery walls which can lead to serious heart problems. Homozygous recessive version is the worst

The name of my medical disorder that I am researching on is called high cholesterol. According to Dr. Juan Alvarado high cholesterol "is an elevated grease in the organism that produces the arteries to harden". Also according to doctor Paulysney Guerrero her definition of high cholesterol is that it is "when the recurrent levels go over 250 mg. The LDL and the HDL always have to evaluate to check to the good and bad cholesterol”. The result of having high cholesterol is that it can lead to several medical catastrophes such as stroke, heart attack, heart disease, blood vessel disease, etc. Dr. Paulysney Guerrero also mentions how "normal cholesterol is between 150-200 mg. This levels increase with bad eating habits." The main causes of

Familial partial lipodystrophy type 6(FPLD6) is an inherited disorder caused by a change in the LIPE gene. Patients typically have pockets of fatty tissue within their abdomen with a loss of fat in their limbs. These patterns of fat distribution together with high levels of insulin and lipids (fatty acids, including cholesterol, that store energy) are used for diagnosis.

This gene instructs the body to make lecithin-cholesterol acyltransferase enzyme (LCAT enzyme) which has a function of removing cholesterol from body and tissues and carrying them to the liver by the help of lipoprotein molecules. The cholesterol molecules will then be redistributed to other body tissues or removed from body by the liver. The activity of LCAT enzymes which adds cholesterol molecules to high-density lipoprotein (HDL) is called Alpha-LCAT activity. When LCAT enzymes add cholesterol molecules to very low-density lipoprotein (VLDL) and low-density lipoprotein, the activity is called Beta-LCAT activity. The mutation in gene LCAT leads to the reducing of Alpha-LCAT activity in the LCAT enzyme. This results in body lacking cholesterol and cornea opacities cholesterol. There is so far no known reason why this mutation only causes cholesterol opacities in cornea (Fish-eye

Early initiation of lipid-lowering therapy and lifestyle measures might modify the clinical outcome. These treatment initiatives have especially improved the prediction of HeFH. All of the medications used for heterozygous FH are also used to treat homozygous FH, such as bile acid absorbing resins, drugs “Shatins” are used. People with homozygous FH often undergo LDL apheresis, a process by which blood is removed through the patient’s vein and LDL is filtered out before the blood is passed back into a different vein, similar to dialysis. Some successful cases for homozygous FH patients undergo a liver transplant in order to normalize LDL levels, but homozygous FH is still harder to be treated. Therefore the nutrition therapy (lower cholesterol foods) is very important for the FH patients to focus on, which can manage the healthy lifestyle to avoid the bad cholesterol was

Based on those findings, Wilson performed an experiment on a person suffering from hypercholesterolemia (FH). This certain disease forbids the liver from processing cholesterol.