Can Hyperlipidemia Be Inherited Research Paper

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Introduction

Hyperlipidemia, better known to patients as high cholesterol, is a common problem and can refer to any number of physical disorders that result from extra fats (lipids) in the blood.  Lipids commonly associated with this disease are cholesterol and triglycerides.  These fats will deposit in the walls of blood vessels are restrict blood flow, which can lead to heart attack or stroke.  There are no symptoms of hyperlipidemia and the disease is only identified after the fact (following a stroke or heart attack) or through routine testing of blood.  There are more than 3 million cases per year of hyperlipidemia (Mayo Clinic, 2017).

Phenotype and Genotype

Familial combined hyperlipidemia lipid phenotype and ApoE E2/E2 genotype have been used to identify the disease; determining the lipoprotein levels is important.  The lipoprotein profile should be determined by examining LDL-C, HDL-C, TG, and total cholesterol) following a 9 hour fast.  Physicians may particularly look for “elevated apolipoprotein B (apoB) levels and the presence of small dense low density lipoprotein (LDL), as reflected by a low value of the parameter K (apoB 1461±305 versus 997±249 mg/L, respectively [P<0.001]; K value ?0.22±0.19 versus ?0.02±0.19, respectively [P<0.001])” in the patient (Veerkamp, de Graaf, Bredie et al., 2002, p. 274).

Pathophysiological Processes

The pathophysiological processes of hyperlipidemia begin with elevated plasma LDL, which leads to the penetration of native LDL-C particles via endothelium and into the intimal layer of the arterial wall.  LDL-C particles are oxidized (which causes the discharge of chemotactic factors, such as cytokines).  Macrophages in the intima consume the oxidized LDL-C to create foam cells.

Lesions then form (the foam cells form the early atherosclereotic lesion), leading to fissures and aggregation of the platelet, which causes thrombin generation.  Formation of fibrin results and the thrombus is impacted, with occlusion potentially resulting, manifesting itself as acute coronary syndrome.  Endothelial cells discharge glycoproteins which lead to monocyte adhesion to the endothelial surface.

The oxidization of the LDL-C causes the endothelial cells to create chemotactic factor and cytokines.  Monocytes penetrate the intima and differentiate into macrophages.  Macrophages then produce growths—smooth muscle cells proliferate, which leads to a fatty streak.

Genetic Predispositions and Tendencies

The genetic predispositions of hyperlipidemia include familial combined hyperlipidemia (FCHL) in the patient’s relatives (Aguilar-Salinas, Díaz-Polanco, Quintana, 2002).  Additionally, “single-gene mutations in apoproteins, lipoproteins, and some of the enzymes involved in lipoprotein may underlie” causation of hyperlipidemia in individuals (Nestruck, Davignon, 1986, p. 47).  However, any clear identification of genetic predisposition is uncertain because there are a variety of genes that can lead to the cause of the disease.

Genetic tendencies of individuals at risk of hyperlipidemia include autosomal dominant disorder, triggered by mutations in the LDL receptor gene 4.  Familial defective apoplipoprotein B is a gene that can lead to the mutation of codon 3500 in apoB gene 5 and can be inherited from first-degree relatives.  This gene has a dominant inheritance, which means that individuals can pass it on to offspring.  Single gene defects are significant since they lead to high plasma cholesterol and are associated with cardiovascular disease (Beilby, 2005).

Patterns of Inheritance

If hyperlipidemia is produced by mutations in LDLRAP1 gene, the disease is viewed as being inherited through autosomal recessive pattern.  This means that recessive inheritance is the result of two changed copies of the gene in each cell, the two parents of the person each carrying a copy of the changed gene.  Normally, inherited forms of hyperlipidemia stem from changes in the APOB, LDLR, and PCSK9 genes, which indicate autosomal dominant pattern inheritance.  In such cases, only a single copy of a changed gene in each cell is responsible for the disease.  In other words, the gene is passed on…

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References

Aguilar-Salinas, C. A., Díaz-Polanco, A., Quintana, E., Macias, N., Arellano, A., Ramírez, E., Correa-Rotter, R. (2002). Genetic factors play an important role in the pathogenesis of hyperlipidemia post-transplantation. American Journal of Kidney Diseases, 40(1), 169-177.

Beilby, J. (2005). Genetics of hyperlipidemia. Retrieved from http://www.athero.org/focusgroups/2005/hyperlipidemia.htm

Castro-Oros, D., Pocovi, M., Civeiri, F. (2010). The genetic basis of familial hypercholesterolemia. Application of Clinical Genetics, 5(3), 53-64.

Mayo Clinic. (2017). High cholesterol. Retrieved from https://goo.gl/zLxbya

Nestruck, A., Davignon, J. (1986). Risks for hyperlipidemia. Cardiology Clinics, 4(1), 47-56.

NIH. (2017). Genetics home reference. Retrieved from https://ghr.nlm.nih.gov/condition/hypercholesterolemia#inheritance

Veerkamp, M., de Graaf, J., Bredie, S. et al. (2002). Diagnosis of familial combined hyperlipidemia based on lipid phenotype expression in 32 families. Arteriosclerosis, Thrombosis, and Vascular Biology, 22, 274-282.


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