Hypercholesterolemia: Symptoms, Treatment, and Prevention

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Hypercholesterolemia: Symptoms, Treatment, and Prevention

Introduction

Cholesterol is one of the most well-known types of lipids, and its fame is due to the frequent mention of this word in various commercials and weight loss campaigns. Indeed, although this compound is natural for humans, its excess can have a significant adverse effect. In some cases, too high a cholesterol level can mean the presence of hypercholesterolemia, a condition that is a significant health concern (Vallejo-Vaz et al., 2018). This is confirmed by the statistics on high cholesterol, which in the United States is observed in about 12 percent of the adult population (High cholesterol facts, 2021). Another reason for the attention to this condition is the risk of developing various cardiovascular diseases (Poli, 2019). Lipids can build up in blood arteries and extravascular locations in patients with severe hyperlipidemia, which can be primary or secondary.

In the absence of a predisposing disease, patients with primary hyperlipidemia develop abnormally high levels of plasma lipids. Most of these conditions can be traced back to inherited traits. Secondary hyperlipidemia refers to situations in which unusually high lipid levels result from another illness and medication. The lipid problem may be corrected if these disorders are treated. It is possible to have primary hyperlipidemias that are purely hypercholesterolemia. The paper evaluates hypercholesterolemia, its treatment, prevention, and dietary recommendations.

Analysis

Explanation of the Condition

Symptoms

When the blood contains an excessive amount of cholesterol, it is said to have high cholesterol. Being overweight, smoking, and consuming alcohol are all factors that contribute to obesity. One may lower cholesterol by eating a healthy diet and exercising more (Vallejo-Vaz et al., 2018). Blood arteries might become clogged if an individual has too much cholesterol in the system. Symptoms of high cholesterol are not seen in those with normal cholesterol levels. Only a blood test can reveal whether or not one is affected. Elevated low-density lipoprotein (LDL) levels are a hallmark of hypercholesterolemia diseases where a decrease in LDL clearance causes them. Pure hypercholesterolemia is characterized by these symptoms: Hypercholesterolemia in the family. The LDL receptor has an autosomal dominant deficiency where the amount of LDL receptors in the cells of people with classical familial hypercholesterolemia is halved (Watts et al., 2020). Due to an issue with LDL, patients have higher cholesterol levels in their blood than usual. In addition, because ingested cholesterol has lower negative feedback, the liver raises its levels of cholesterol synthesis (Poli, 2019). Regarding the risk of atherosclerosis, it is the most serious of the hyperlipidemia illnesses in terms of severity.

Premature onset of cardiovascular disease is another possibility for patients. In most populations, it occurs at a rate of one in 500. Wald & Bestwick (2020) confirms that seventy percent of individuals have xanthomata in the extensor tendons of their fingers and the Achilles tendon. Xanthelasma and corneal arcus may also be seen in patients. Patients who have a positive family history of these xanthomata in their immediate family members can aid in their diagnosis of the ailment (Vallejo-Vaz et al., 2018). Compared to heterozygotes, homozygotes typically have total cholesterol levels above 15mM, whereas heterozygotes typically have levels between 8-11mM (Wald & Bestwick, 2020). The macrophages of patients with type IIa or IIb hyperlipidemia have a high chance of taking up lipids. When it comes to coronary artery disease, homozygotes typically die in their 20s, while heterozygotes usually die in their 40s (Poli, 2019). Plasmapheresis is used to treat the illness, and patients are also instructed to follow a low-fat diet and given medications such as atorvastatin.

Apolipoprotein B100 has a pressing problem that runs in the family. Apoprotein B100 binding to hepatocytes is decreased in this autosomal codominant disease. As a result, LDLs are less efficiently removed from the bloodstream (Wald & Bestwick, 2020). Most cases are caused by mutations in the APOB gene, which has an anomaly in the LDLR binding region of apoprotein B100. However, the illness is less frequent than classic familial hypercholesterolemia. Less prevalent and less severe hypercholesterolemia can be found in the tendon xanthoma. Mutations in an adapter protein for LDL receptor activity cause this sporadic illness (Vallejo-Vaz et al., 2018). This disease afflicts only homozygotes because it is recessive as patients with classic familial hypercholesterolemia resemble these people where atherosclerosis develops in childhood in those with big tendon, tuberous, and palmar xanthoma.

Causes

There are several reasons for developing this condition, which can exist simultaneously. From a biological point of view, a combination of factors causes cholesterols to grow in size, which causes the HDLs to increase because HDLs cannot transport cholesterol esters. HDLs and apoproteins A1, A2, and E are abundant in the blood of patients with this condition (Ramaswami et al., 2019). First of all, it can be caused by not following a proper diet, in which attention should be paid in particular detail to the intake of fats (Ramaswami et al., 2019). In addition, there is a genetic factor that can affect the patient from birth and is extremely common (Di Taranto et al., 2020). In this case, the condition is called familial hypercholesterolemia because of the connection with the family. Nevertheless, it should be mentioned that the development of the disease is influenced by several factors at once, which increase or decrease the predisposition to the condition.

Complications

Multifactorial hypercholesterolemia occurs when multiple genes are involved in this type of LDL hypercholesterolemia. Most people with high LDL cholesterol have more than one involved gene, accounting for 85% of all instances (Vallejo-Vaz et al., 2018). Geographic disparities in the incidence of this disease are thought to have environmental causes, such as nutrition and exercise. A usual patients cholesterol level is below 10mM. At the same time, the population in question has a higher cholesterol level than the initial one, but xanthomas have not been seen in the coronary arteries (Wald & Bestwick, 2020). HDL homeostasis is disrupted in this case, where a mutation in the CEPT gene causes CEPT deficiency, an autosomal recessive disease.

Treatment and Prevention

For the treatment of hypercholesterolemia, lifestyle adjustments such as avoiding smoking and increasing exercise are combined with pharmaceutical interventions, including statin treatment and selective application of cholesterol captivation inhibitor ezetimibe. HDL cholesterol is lower in people who lead sedentary lifestyles (Ramaswami et al., 2019). When the HDL reduces, the bodys ability to eliminate harmful cholesterol from the arteries is compromised. High blood pressure and diabetes are two more risk factors for heart disease exacerbated by smoking. Smokers LDL cholesterol can be reduced, and HDL cholesterol can be raised by quitting smoking, whereas nonsmokers should avoid indirect smoking (Watts et al., 2020). Obesity increases bad cholesterol while decreasing good cholesterol. However, even a small reduction in body weight will get a person closer to healthy parameters, which positively impact their cholesterol level (Ramaswami et al., 2019). Similar results can be achieved through active physical activity, which should be age-appropriate. In this way, both excess weight loss and a more rational energy balance can be ensured.

Dietary Recommendations

Lowering the intake of flooded fats is the most excellent approach to reducing cholesterol from a dietary perspective. Wald & Bestwick (2020) confirms that one should consume no more than 6% of regular calorie allowance from saturated fat and no more than 5% from trans fat. Ramaswami et al. (2019) indicate softer values, recommending 10 percent or less of energy from saturated fats. In addition, restricting the consumption of red meat and dairy product is the best method to reduce this cholesterol.

Conclusion

Hypercholesterolemia occurs when an underlying condition, circumstances, medication, or lousy diet causes it. All of these circumstances are the root cause of elevated cholesterol levels. Primary hypercholesterolemia happens primarily due to a hereditary deficiency in the genes that control the bodys cholesterol levels. It is possible to have a genetic condition that leads to a high cholesterol level. Persons with primary hypercholesterolemia commonly have secondary factors contributing to their disease and making it even more challenging to manage. It can be caused by an underlying illness, circumstances, medication, or a poor diet. Cholesterol levels can rise due to these factors, the principal cause of high cholesterol. This is because of a genetic flaw in the genes responsible for regulating the bodys cholesterol levels in most cases. Secondary causes are common in persons with primary hypercholesterolemia, making it even more challenging to manage the condition.

References

Di Taranto, M. D., Giacobbe, C., & Fortunato, G. (2020). Familial hypercholesterolemia: A complex genetic disease with variable phenotypes. European Journal of Medical Genetics, 63(4), 103831. Web.

High cholesterol facts. (2021). Centers for Disease Control and Prevention. Web.

Poli, A. (2019). Primary prevention and hypercholesterolaemia: Doc, please, give me the natural statin. European Heart Journal Supplements, 21(Supplement_B), B71-B72. Web.

Ramaswami, U., Humphries, S.E., Priestley-Barnham, L., Green, P., Wald, D.S., Capps, N., Anderson, M., Dale, P., & Morris, A.A. (2019). Current management of children and young people with heterozygous familial hypercholesterolaemia-HEART UK statement of care. Atherosclerosis, 290, 1-8. Web.

Vallejo-Vaz, A.J., De Marco, M., Stevens, C.A., Akram, A., Freiberger, T., Hovingh, G.K., Kastelein, J.J., Mata, P., Raal, F.J., Santos, R.D., Soran, H.., Watts, G. W., Abifadel, M., Aguilar-Salinas, C. A., Al-khnifsawi, M., AlKindi, F. A., Alnouri, F., Alonso, R., Al-Rasadi, K&. EAS Familial Hypercholesterolaemia Studies Collaboration. (2018). Overview of the current status of familial hypercholesterolemia care in over 60 countries-The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC). Atherosclerosis, 277, 234-255. Web.

Wald, D. S., & Bestwick, J. P. (2020). Reaching detection targets in familial hypercholesterolemia: Comparison of identification strategies. Atherosclerosis, 293, 57-61. Web.

Watts, G.F., Gidding, S.S., Mata, P., Pang, J., Sullivan, D.R., Yamashita, S., Raal, F.J., Santos, R.D., & Ray, K.K. (2020). Familial hypercholesterolemia: Evolving knowledge for designing adaptive models of care. Nature Reviews Cardiology, 17(6), 360-377. Web.

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