Familial Hypercholesterolemia

Cholesterol is a waxy lipid found in all body cells; it has a structure containing multiple chemical rings and is found only in foods of animal origin.

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

As controversy rises over the ability to test embryos for genetic defects one must chose a side. In this essay I will be examining the debate over the ability to screen for familial hypercholesterolemia in embryos. Familial hypercholesterolemia is a condition which often kills children before puberty. This condition causes elevated cholesterol and can cause angina at a young age. Many children with this disease die at a young age and most suffer at least one heart attack by their thirties. There is however, a treatable version of this disease which is the heterozygous variation. 1 in 500 people develop the heterozygous disease while 1 in 250,000 people develop the more serious homozygous variation. Critics argue that the ability to test for Familial hypercholesterolemia will allow couples to destroy embryos that have the potential to live healthy lives. In this essay I will argue that genetic testing for familial hypercholesterolemia is permissible.

There are two types of cholesterol, low-density lipoprotein (LDL) and high-density lipoprotein (HDL). LDL is

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

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

Cholesterol is a compound chemical that contributes to coronary artery disease, which have a various risk factors which includes poor dieting, smoking, and a family medical history. This disease is very high risks, its one which runs in my family, and family history.

Diseases or health conditions are more so present in certain familiars than in others. Some are developed through environmental factors, lifestyle, genetics, and overall health wellness. Diseases can take different forms and occur at different stages of life. They can affect certain ages and genders. Through education and proper medical procedures most of them could be prevented and treated. The diseases that will be discussed further are: Hashimoto’s disease, high blood cholesterol, and brain diseases such as an aneurysm a stroke.

In many nations the commonness of the heterozygous type of FH, in which a faulty gene for the LDLR is acquired from one parent and a normal gene from another is 1:500 and that of the homozygous form is 1:1,000,000 people which renders FH likely the most well-known illness created by a single gene mutation in people (Goldstein et al., 2002). it has been evaluated worldwide there are 10,000,000 individuals with FH of whom under 10% are diagnosed, and under 25% treated with LDL-lowering medications (Civeira, 2004). In many cases the diagnosis is missed until an intense clinical episode occurs. in a little number of genetically isolated groups the pervasiveness of heterozygous FH is much higher than in many populaces. In these populaces, few DLR mutations prevail. Increased prevalence of FH because of the founder impact can be distinguished in such populaces as Ashkenazi Jews, Africans, French Canadians, Lebanese, Icelanders and Finns (Austin et al.,

There are two types: low density lipoprotein (LDL) and high density lipoprotein (HDL) (Jernigan). High blood cholesterol can have disastrous effects but is usually not regarded as important as the levels of it are hard to identify (What is Cholesterol?). High density lipoproteins are very helpful and don’t do anything the body doesn’t want. It usually just rides the bloodstream clearing the blood of bad cholesterol and lowering the risk of coronary heart disease (HDL Cholesterol). HDL recycles the low density protein by transporting it to the liver to be reprocessed (HDL Cholesterol). Low density cholesterol, however, backlogs in atherosclerosis (LDL Cholesterol). Higher levels of this cholesterol can create blood clot in an artery narrowed by atherosclerosis (LDL Cholesterol). White blood cells that try to consume the LDL in an act of protection of the body, usually turn the LDL into a toxified version of itself, putting more risk to the body (LDL Cholesterol). LDL also puts you at a higher risk for heart disease as

Cholesterol is a waxy, fat-like substance that travels through our blood stream in small packages called Lipoproteins. There are two different types of lipoproteins that carry cholesterol through your body; low-density lipoproteins (LDL), “bad” cholesterol, and high-density lipoproteins (HDL), “good” cholesterol. (1) Our body’s make all the cholesterol we need, however it is also found in food we eat, therefore making, maintaining a good cholesterol level difficult for some people. When one talks about cholesterol most think about the health of your heart, while this is very important, cholesterol has other important bodily functions as well, such as, hormone production, cell membrane support, and bile production.

Leritz, E. C., McGlinchey, R. E., Salat, D. H., & Milberg, W. P. (2016). Elevated levels

Cholesterol is present in every cell of the body, predominantly in the cell membrane but also in other organelles such as the membranes of the mitochondria and the endoplasmic reticula. As a component of the cell membrane it aids the maintenance of cell integrity and plays a part in cell to cell communication which enables human functionality. The plasma membrane is composed of a phospholipid bilayer, as the name suggests, phospholipids are lipids attached to a phosphate group and they consist of a head that is hydrophilic and therefore polar, and a tail that is hydrophobic and non-polar.

Cholesterol is a waxy substance that comes from two sources: your body and food. Your body, and especially your liver, makes all the cholesterol you need and circulates it through the blood. But cholesterol is also found in foods from animal sources, such as meat, poultry and full-fat dairy products. Your liver produces more cholesterol when you eat a diet high in saturated and trans fats.

The two most common methods to gathering data utilized by the researchers in the various FH studies either employed direct data collection, such as from medical records from their visits with physicians or while they are inpatient in a hospital, or the researchers would change some aspect of the person’s life and then collect pertinent data over a set time period. The independent variables that these studies focused on included hypertensive meds, antidiabetic meds, lipid-lowering meds, statins, intestinal cholesterol absorption inhibitors, prescription omega 3 fatty acids, and antiplatelet agents that the patients were put on by their physicians, along with an isocaloric diet created specifically for that particular study, the IV injected solution for the lipoprotein turnover studies, and the lard-based diet. The dependent variables that have been studied thus far include the degree of stenosis, stroke severity, functional outcome, LDL particle size, the lipid profile variables including total cholesterol, LDL, and HDL measurement, catabolic rate of LDL, plasma triglyceride concentrations, LDL receptor activity, and sterol excretion.