Familial Hypercholesterolemia Research Paper

A higher level of fats in the body puts the patient at higher risk for Cardiovascular diseases(CAD). The patient's' family has a history of CAD. Her mom and one of her sister have CAD (Lewis et al., 2014, pp. 733-734). The patient states that she has been taking her meds for cholesterol atorvastatin regularly. Her lipase level was 8272 on 11/11/16 and 2829 on 11/12/16 U/L 1069 on 11/13/16 (Ref range 73-393 U/L). Her HDL cholesterol level was 21 ( ref range>49 mg/dl), LDL Cholesterol level 148 ( ref range: <130 mg/dL). Patient statin drug was on hold because it is contradicted on the patient with an elevated level of ALT 80, 61(Ref range 0-50 U/L) and AST 61 on 11/12/16 and 64 on 11/13/16 (ref range 0-45 U/L). The uncontrolled level of could be the cause of concern for stroke or acute myocardial

(TCO 6) Which of the following is a genetic disorder resulting in debilitating protein abnormalities?

The National Institute of Health (2014) listed the most common form of familial hyperinsulinism to be an autosomal recessive genetic defect that is common among the Ashkenazi Jewish population. This condition affects 1 in 66 carriers who are Ashkenazi Jews since they have reported consanguineous marriages (NIH, 2014). Among Ashkenazi Jews, two single ABCC8 mutations account for 90 percent of cases of familiar hyperinsulinism (Mazor-Aronovitch, et al, 2007). The incidence of FHI in individuals of northern European descendants is approximately 1:30,000 live births. The incidence is increased in genetically isolated populations with a high prevalence of consanguinity (UpToDate.com).

High cholesterol is one of the most common diseases that occur in today's society. According to Centers for Disease Control and Prevention, 71 million American adults have high LDL "bad" cholesterol. When cholesterol levels are normal, they normally do not harm the body since cholesterol can be beneficial to the body. However, if excess amounts of cholesterol are in the body, it can become a threat. "Cholesterol is a waxy substance that plays an important role in building cell membranes and sex hormones" (Overview). The certain types of food you consume on a daily basis may affect the cholesterol levels in your blood. There are two types of cholesterol, which is your HDL (high density lipoprotein), "good", cholesterol, and your LDL (low density lipoprotein), which are the "bad" cholesterol. It is critical that an individual maintains his or her cholesterol levels because he or she can increase their risk of cardiovascular disease. LDLs are known to carry cholesterol into your arteries and clog them, which can cause strokes and heart attacks. On the other hand, HDL, help eliminate cholesterol from the arterial vessels and transport it to the liver, which is then defecated with body waste. According to Sroda, an individual's total cholesterol should be less than 200, LDL levels should be less than 130,

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 discussed by Dr. Fink, hypertension is a multifactorial phenomenon. The hereditability based on twin studies suggests levels as high as 30-60%, but a familial correlation may also originate from environmental factors or lifestyle habits. Specific genetic polymorphisms that may contribute include mutations in controllers of vascular smooth muscle tone and the regulators of blood volume (Mitchell, 262). It is important to note that the genetic contribution is most often polygenic in nature and not the result of a single gene mutation. This can complicate the overall picture and prevention/treatment

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.

Some mutations are harmful, however the mutations which are

Regular cholesterol screening is an important part in maintaining good health, but may be confusing. By understanding the role cholesterol plays in the body, you can better understand why regular screening is important.

The goal: To identify the difference in severity of FH for the homozygous and heterozygous genotypes. Also, to learn about statins.

mutation is phenylalanine 508 known as delta F508. Delta F508 is a deletion of 3 nucleotides

The underlying risk factors include obesity, physical inactivity and an atherogenic diet. The major risk factors for cardiovascular disease in this syndrome are smoking, hypertension, increased LDL cholesterol and low HDL cholesterol, aging and a family history of coronary events. The emerging risk factors are increased triglycerides, small LDL particles, insulin resistance, a pro inflammatory and prothrombotic state as well as glucose intolerance. The combination of these factors in one person is a predictor of that person having a future cardiovascular event or the onset of type 2 diabetes (Meigs, 2010). With so many risk factors laying down a set of defined parameters can be daunting. It is no wonder researchers often argue over set guidelines. However with more and more people developing these problems, it is necessary to start somewhere.

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

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

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