Familial Hypercholesterolemia Term Paper

Familial Hypercholesterolemia Term Paper Term Paper example
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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).


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. ...
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