Two Types Of Familial Hypercholesterolemia

He tells me that his lipids have been elevated, but he is not going to take statin therapy. He has never been prescribed statins. He has not had his levels checked in the last six

A homozygote is an organism with two copies the same allele. For example, cystic fibrosis is an inherited disorder. On the other hand, heterozygote is when there are two different alleles for the same trait. A homozygote is an organism with two copies the same allele. For example, cystic fibrosis is an inherited disorder. On the other hand, heterozygote is when there are two different alleles for the same trait.

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.

Also during our interview, G.F. said that last he knew his cholesterol was around 200-210, which places him in the borderline category. Normal range for total cholesterol is <200. After reviewing his 24 hour diet recall, I noticed that he consumed a number of high cholesterol foods. This, along with his lack of blood pressure knowledge and family history of cardiovascular disease, places him at a higher risk for cardiovascular disease. According to Fang, J., Ayala, C., Loustalot, F., & Dai, S. (2012), “High blood cholesterol is a leading risk factor in the development of atherosclerosis and coronary heart disease. The risks associated with high blood cholesterol can be reduced by screening

She is currently on a regimen of garlic and ezetimibe 10mg which is ineffectively treating or dyslipidemia. Ezetimibe which works by inhibiting absorption of cholesterol may only lower LDL by 10% and must be discontinued and replaced with another medication for M.T. (American Association of Clinical Endocrinologist (AACE), 2017). M.T. will be assessed for liver function, renal function and potential history of family intolerance to statins. With no possible complications assessed, M.T. will be prescribed pravastatin 40mg once daily in the evening. She will be instructed to take the medication in the evening for optimum effect and to be aware of possible side effects include GI upset and muscular pain (AACE, 2017). Pravastatin will be used secondary to an increased risk of new onset diabetes with the use of statins and is less common with the use of pravastatin (AACE,

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

LDL deposits cholesterol in the arteries which cause plaque that restrict blood flow and increase the risk of a heart attack. (Timberlake, 2014, pg. 535)

What is the probable genetic causation of excessive cardiovascular disease in the Family pedigree presented? Are any lifestyle issues causing an exacerbation or alleviation of this disease?

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.,

FH can either be homozygous or heterozygous, homozygous being more rigorously affected than heterozygous. Heterozygotes have a plasma LDL concentration that is double that of normal individuals, thus increasing the risk of coronary artery disease. Atherosclerosis is the accumulation of white blood cells in the artery walls, thickening it over time. Individuals with two defective copies develop this disease at an early age which usually leads to death. It is always thought that FH is caused by the mutations of the LDL receptor proteins. There are currently more than 800 different mutations for the LDLR that cause FH (Soutar & Naoumova, 2007). The most common types of mutations are premature stop codons, mutations in the promoter and pre-mRNA, and amino acid substitutions. Individuals with autosomal recessive hypercholesterolemia have the same phenotype as the homozygous FH, but the conditions are not as extreme because of the cholesterol and LDL cholesterol levels. Treatment results show better results with lipid-lowering drugs. Some studies show that unaffected individuals and heterozygous individuals how no significant difference (Soutar & Naoumova, 2007). High cholesterol from birth will lead to vascular diseases and hardening of the

: The attitude of hyperlipidemic patients regarding the disease and dietary management would be found poor

Although hyperlipidemia (high cholesterol) is usually caused by lifestyle habits or treatable medical conditions, sometimes you can inherit the gene for hyperlipidemia.

Heart disease is the leading cause of death in many countries around the world. Hypercholesterolemia is an underlying factor leading to heart disease. By inhibiting the cholesterol synthesis pathway, scientists can develop ways to reduce the number of heart disease related deaths. One way could be to inhibit in the step of the Phosphomevalonate kinase (PMK), a cytoplasmic enzyme found in the liver. Berberine (BBR), as a new medicine for hypercholesterolemia, can reduce the blood lipids in patients. BBR inhibited lipid synthesis in human hepatocytes via the activation of AMP-activated protein kinase (AMPK). This study aimed to investigate the binding interaction of BBR to the human PMK by using molecular docking. Then, the novel 5 BBR derivatives

Heterozygotes carry two different alleles, which increases the chances of the alleles appearing in other variations of offspring.