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Familial Hypercholesterolemia - Term Paper Example

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Familial Hypercholesterolemia

The remaining cases of FH is caused by a mutation in the gene encoding for apolipoprotein B-100 (ApoB-100), located at the short arm of chromosome 2, which reduces ligand affinity for the normal receptors. As a result, plasma concentration of LDL-C increases (Al-Allaf, et al., 2010). The more common heterozygous FH is diagnosed by an average LDL-C level of greater than 160 mg/dl for two measurements (Jacobson, 2007). It is said that 1: 500 individuals suffer from it, more than those who have homozygous cystic fibrosis and sickle cell anemia. Typically, serum cholesterol is at 250-450 mg/dl (6.5-11.6 mmol/L) and LDL-C is at 200-400 mg/dl (5.2-10.4 mmol/L) (Al-Allaf, et al., 2010). Early intervention only warrants lifestyle changes, while therapeutics are needed in late cases where lifestyle modifications are already ineffective (Jacobson, 2007). On the other hand, the rare homozygous FH is characterized by total serum cholesterol levels of greater than 500 mg/dl (13 mmol/L) and LDL-C levels of greater than 450 mg/dl (11.7 mmol/L). It occurs in 1: 1, 000, 000 individuals. As a result of hypercholesterolemia, xanthoma on the tendons of the distal extremities and premature development of corneal arcus exist among individuals with homozygous FH. In addition, they develop cardiovascular diseases earlier relative to those with heterozygous FH (Al-Allaf, et al., 2010). FH carriers, on the other hand, are much more difficult to detect as they present with a wide variety of signs and symptoms (Broekhuizen et al., 2010). . There is no current treatment for the genetic mutation in FH, since studies on the effectiveness of gene therapy with surgical intervention are still ongoing (Al-Allaf, et al., 2010). However, if the signs and symptoms of FH are ignored, it can lead to premature fatal cardiovascular diseases, stroke and myocardial infarction (Daskalopoulou, Doonan and Mikhailidis, 2010). It increases the risk for hastened arterial plaque development, which normally begin in early childhood and peak during adolescence (Jacobson, 2007). It is thus important to prevent these cardiovascular changes from happening so that better physical and social outcomes can be achieved and healthcare costs are minimized (Al-Allaf, et al., 2010; Broekhuizen et al., 2010). SUMMARY OF FINDINGS Approach on patient with hypercholesterolemia A person with high lipid levels is worked-up based on the stage of the disease at which presents. Hyperlipidemia in an otherwise healthy patient without family history of early myocardial infarct, stroke or peripheral vascular disease, only warrants basic lifestyle patient education regarding proper diet, exercise, and smoking prevention. Diet diary, food frequency questionnaire, and inquiries on usual food intake during the interview can illicit points at which dietary restrictions can be focused on. Meanwhile, if family history is present, fasting lipid profile is needed to determine whether average LDL-C is greater than 160 mg/dl, in which case the target LDL-C is set at below 130 mg/dl and therapeutic lifestyle changes (TLC) are advised (Jacobson, 2007). Non-pharmacological management In managing patients with FH, it is important to prioritize risk factors and to intervene them in a step-wise manner. In dietary modifications, decreasing intake of sources ...Show more

Summary

INTRODUCTION Familial hypercholesterolemia (FH) is an autosomal dominant disorder of lifelong elevation low density lipoprotein-cholesterol (LDL-C) in the plasma (Al-Allaf, et al., 2010). As well, it is the best-characterized genetically-transmitted risk for hyperlipidemia (Jacobson, 2007)…
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