Familial hypercholesterolemia, also known as familial hyperlipoproteinemia, is an autosomal genetic disorder that leads to increased low-density lipoprotein level in the blood which is known as “the bad cholesterol “. The disorder starts at birth and the responsible gene of this medical condition is inherited. Familial hypercholesterolemia can be diagnosed through regular screening blood work that reveal extremely elevated total cholesterol and low-density lipoprotein level in the blood; Patients can have total range of cholesterol levels in the 350-550 mg/dL. Also, the physician, during a physical examination, can suggest familial hypercholesterolemia from certain findings such as xanthelasma, tendon xanthomas, or tuberous xanthomas. Recently, molecular testing methods are being used …show more content…
Familial hypercholesterolemia can appear in anyone who has a parent with the disease is at risk although it is more common among certain ethnics such as those of French Canadian, Lebanese, and South African descent.
E:
According to the National Lipid Association Expert Panel on Familial Hypercholesterolemia The incident rate is 1 in 500 people, recent estimates suggest a prevalence of approximately 1:200, It is estimated to occur at an average rate of 1:300-1:500.
F:
Patients with familial Hypercholesterolemia should exercise and eat healthy low-fat diet, follow a low-fat, low-cholesterol diet. Take only 25%-35% of daily calories from fat. Cholesterol intake should be limited to less than 200 mg per day. Patient should consume 10 to 20 grams of soluble fiber a day. Also, certain medications can be prescribed by the physician which include: Statins, Bile-acid-binding resins as cholestyramine, Cholesterol absorption inhibitors like Zetia. Diet and exercise are the best initial treatment for children age 2 and older who have high cholesterol.
G: To control this disorder, primary care physicians should screen children at 2-time points: ages 9-11 and again between ages
The Mayo Clinic’s book on High Blood Pressure was full of detailed facts about blood pressure and what it is. This is extremely significant to the experiment because blood pressure is one of the variables being tested. Understanding blood pressure is one of the key components to receiving accurate results from this experiment. Most of the book is on high blood pressure, which is not necessary for the experiment, but the book still had plenty of useful information about blood pressure itself. The book explains that when the heart beats, a surge of blood is released from the left ventricle. It also tells of how arteries are blood vessels that move nutrients and oxygenated blood from the heart to the body’s tissues. The aorta, or the largest artery in the heart, is connected to the left ventricle and is the main place for blood to leave the heart as the aorta branches off into many different smaller
While it is rare to have a diagnosis in children younger than 12 years of age, it does happen. Average age of onse...
Hypercholesterolemia is the presence of high levels of cholesterol in the blood. Cholesterol is a waxy fat-like substance and is a major class of lipid, so it gets into the blood by lipoproteins [1]. A high level of lipoproteins is unhealthy. A high level can result in an elevated risk of atherosclerosis and coronary heart disease [2]. The high levels of lipoproteins are often influenced by a combination of genetic and environmental factors such as obesity or dieting habits [2]. High cholesterol can be caused by mutations in the following genes: APOB, LDLR, LDLRAP1, and PCSK9 [3]. Mutations in the LDLR gene are responsible for causing familial hypercholesterolemia, which is the most commonly seen form of inherited high cholesterol [3]. The LDLR gene contains instructions for making LDL receptors or low-density lipoprotein receptors. LDL receptors play critical roles in regulating levels of cholesterol in the blood by removing low-density lipoproteins from the bloodstream. Mutations in the LDLR gene can make the amount of LDL receptors produced less than normal or affect their job of removing the low-density lipoproteins in the blood [4]. People who have these mutations will have higher levels of cholesterol. There are many ways that the environment can affect the levels of cholesterol in the blood. Reducing the amount of dietary fat you consume lowers the total amount of cholesterol in the blood [5]. Sucrose and fructose can raise the amount of LDL in the blood. Reducing fatty foods will however lower the amount of LDL [5]. Having a healthy body and maintaining physical exercise plays a key role in keeping your cholesterol at a healthy level. If you are overweight or obese you can lower your cholesterol levels by simply losing ...
The contributing factor is lack of knowledge and family medical screening. Understanding the history of your genetic line specific to your race and ethnicity may be helpful in preventing heart disease later on in adulthood.... ... middle of paper ... ... Current studies of note have focused primarily on middle-class and/or suburban populations.
Your genetic information determines the genes you inherit that may cause or elevate your risk of certain medical conditions. My family genogram clearly indicates the risk of developing type 2 diabetes (T2D), heart disease (HD), hypercholesterolemia (HC) and hypertension (HTN). Heart disease is indicated on both maternal and paternal side and even though T2D only shows on my paternal side, the other diseases such as HC and HTN that are on my maternal side are risk factors for developing diabetes. According to Pessoa Marinho et al. (2013), the genetic and environmental risk factors that influence T2D development are: “age, gender, ethnicity, family history, obesity, inactivity, gestational diabetes, macrosomia, hypertension, decreased high-density lipoprotein cholesterol, increased triglycerides, cardiovascular diseases, micropolycystic ovary syndrome, high blood glucose on previous testing, impaired glucose tolerance and glycated hemoglobin ≥5.7%” (Pessoa Marinho et al., 2013, p. 570). Bianco et al. (2013) states, “the maternal influence confirms the hereditary role in the diabetes pathogenesis that women with positive family history to the illness presented...
Metabolic Syndrome (syndrome X, insulin resistance syndrome) is the name for a group of risk factors that raise your risk for diabetes mellitus (DM), cardiovascular disease (CVD), and other health problems, such as diabetes and stroke.2 It is characterized by abdominal obesity, insulin resistance, hypertension, low HDL, and elevated triglycerides. Some hallmarks of metabolic syndromes are dyslipidemia, central adiposity, and a predisposition to atherosclerotic cardiovascular disease, certain cancers, hypertension, and type 2 diabetes mellitus. Genetics appears to play an important role in predisposing certain individuals and populations to the development of metabolic syndrome.1 Multiple environmental factors modify this genetic predisposition and include physical inactivity, advancing age, cigarette smoking, and endocrine dysfunction. The presence of one or either of these signs should alert the clinician to search for other biochemical abnormalities that may be associated with the metabolic syndrome.
Cardiovascular disease, also known as heart disease, is a term used for diseases involving the heart, arteries, capillaries and veins. The problems associated with cardiovascular disease are often a result of atherosclerosis. Atherosclerosis is caused by a buildup of plaque in artery walls, which disrupts blood flow through the arteries (American Heart Association, 2011). Cardiovascular disease causes a variety of conditions including heart attacks, ischemic stroke, heart failure, coronary artery disease, arrhythmias and heart valve problems (American Heart Association, 2011). These conditions lead to serious health related issues for individuals, including death. Every year there are around 600,000 individuals in the United States that die from cardiovascular disease, making heart disease the leading cause of death in both men and women (CDC, 2014). Although there are ways to decrease the risk of heart disease, the rate has been consistently increasing over the years, costing America billions of dollars in health care services annually. Contributing factors to the rise in heart disease includes the rate of obesity and a lack of physical activity (Dhaliwal, Welborn & Howat, 2013; Poirier, Giles, Bray, Hong, Pi-Sunyer & Eckel, 2006). These articles provide research that answers the question of how obesity and physical activity are linked to cardiovascular disease.
5. Maziere, M. Lageron, Polonovski. Alterations in Cholesterol Metabolism in Cultured Fibroblast From Patients with N-P type C. (1987) Inher. Metab. Dis.: 10, 339-346.
Answer: The evaluated group of 500 patients within this study is considered to be a sample. The 500 patients whom possess high cholesterol are comprised of the larger group of patients of which serve holistically as the population. The 500 patients randomly selected from the total population with high cholesterol of which 67% were found with heart disease constitute as the sample.
Without screening these children may go an entire lifetime without ever knowing that they have an illness. Children can be at risk and no one will notice because they didn’t take the time out to screen and ask a few questions. “ Children can benefit from depression screening as early as second grade” (James Mazza) “ If schools don’t screen their students don’t have the opportunity to proactively identify themselves as at risk” (Pros and cons, 1). If schools don't screen they won’t ever know how to differentiate the students who are at risk and need help from those who are fine and don’t need
Since the gene for HD is dominant, there is a 50% chance of a sufferer's
Family Health Problems Tree The purpose I searched for my family health history was to see what complications may occur in my future or in my family. There are a couple of benefits behind me researching the diseases throughout my family history, including that I can learn what is prevalent which may put me at risk of contracting it, it can help me change my lifestyle to prevent or lower my chances, and help me prepare for what may arise. The diseases that are most prevalent in my family that will most likely affect me or my brothers and sisters are Diabetes, Migraine, High Blood Pressure, and High Cholesterol. Diabetes is a disease that I came across when researching the maternal side of my family history.
My cholesterol was 699.83 mg, and since it is hard to determine between HDL and LDL through a food tracking application there was no Daily Recommended Intake. Yet, for a 2,000-calorie diet, it suggests 653mg as a maximum. I should reduce my cholesterol levels, because high cholesterol levels can increase risk of heart disease and stroke due to the plaque that can build up in the arteries. My total fat levels were 251% above my Daily Recommended Intake, and I should reduce total fat intake. Of the fat intake, I should reduce saturated fat the most, which was 138% of my Daily Recommended Intake. Saturated fats can increase risk for heart disease by increasing blood cholesterol. To reduce my fat intake I can replace foods like hamburgers with a leaner cut of meat, or chicken. I can reduce fat levels by using less butter to cook my meals, and less cheese. A good option would be a whole grain bread with turkey deli meat, which only has 1.4g of fat per serving. My sodium levels are also abnormally high; I consumed 7,053 mg of sodium, which is 5,553 mg over my Daily Recommended Intake. High sodium diets can increase blood pressure, which can lead to heart disease. To reduce sodium in my diet I can consume less packaged products, mostly meat products and choose a freshly cooked option. I should stay clear of frozen vegetables that have “fresh frozen” because they do not include added sodium. When deciding condiments, I should stay clear of high sodium products such as ketchup, soy sauce, dips and mustard. An easy away to identify food with recommended sodium levels in a grocery store is the “American Heart Association’s Heart-Check mark”. I consume a supplemental protein shake after each workout within thirty minutes to maximize my recovery and absorption of protein. I also have 25g of supplemental whey protein, and 40 grams of casein protein. Both of these products are
Genetics play an important part in the development of type 1 and type 2 diabetes. The most common of the two types of diabetes is type 2. Type 2 diabetes is being observed in the younger generation. It has becoming increasingly common in younger children, but the genes that are responsible for causing it are scarcely defined.("Genetic Factors in Type 2 Diabetes") What we do have well knowledge of is that the disease is a result of one gene mutating. In type 2 diabetes many genes are said to be involved in the developing of the disease, we just are not sure which gene it is that is being mutated.(1,4) However, the risk of having the disease is affected by your siblings or parents having it. Immediate relatives to individuals with type 2 diabetes are at higher risk of getting the condition rather than a person with no relative with diabetes. If the mother of the father has diabetes then the grandchild has a fifteen percent risk of having type 2 diabetes, but if both the father and the mother of the offspring have diabetes then the offspring's risk would increase by seventy-five percent chance of being affected with the condition. On the other hand, if the offspring were to have a sibling that was a non-identical twin with diabetes it would have a ten percent chance of being affected, but if it had an identical twin the risk would increase by ninety percent. Type 2 diabetes is known to run in families, but as to how it is inherited is not really specified. Scientists think that some environmental factors act as accelerators to diabetes, increasing the development. Some genes, known as susceptibility genes increases the risk of developing diabetes to individuals that carry the genes. ("Diabetes and Genetics") A way to find this gen...
Children, like any other age group, have their numbers steadily increasing with time. They too face the same issues as adults and need an intervention to help them recover. Children have the right to be prevented from mental health complications and the families and health systems should work together to enhance that. Enhanced systems should be able to detect such conditions early enough and provide interventions that solve the problem in the long run. Efficient detection systems can also help establish causes of mental issues among children and provide an opportunity for preventive health approaches.