Familial Hypercholesterolemia

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Hypercholesterolemia is a medical condition which is defined as above normal levels of cholesterol in the blood. High cholesterol is not always genetic, but when the tendencies for high LDL levels run in families it is called Familial Hypercholesterolemia. Hyper is the Greek root word meaning above or beyond, cholesterol is a fatty chemical, and the root emia is from the Greek root heme which means blood. (Kelly 2013) Hypercholesterolemia comes in two forms, heterozygous and homozygous.
Familial hypercholesterolemia is an autosomal dominant disorder affecting the 19th chromosome (fig 1., Kent, Sugnet, Furey, Roskin, Pringle, Zahler, and Haussler 2002). LDL is normally bound at the cell membrane and then taken into the cell for the protein to …show more content…
Diagnosis of heterozygous FH can be made if the LDLc level is more than 330 mg/dL or if tendon xanthomas are present in a patient with an LDLc level above the 95th percentile. Definitive diagnosis can be made only with gene or receptor analysis. Tests to rule out diabetes, hypothyroidism, hepatic disease, and renal disease are usually run to be sure the hypercholesterolemia is from another source (Citkowitz 2014).
Hypercholesterolemia is commonly treated with lifestyle changes such as exercise, diet (don’t eat a lot of beef, chicken, pork, or lamb; substitute low fat dairy; limit alcohol; and stay away from coconut & palm oils), and no smoking. Often medications such as statins are prescribed (Kelly 2013). For those with homozygous FH, LDL apheresis is used as a treatment beginning during the ages of 5 to 8. Also, to live beyond the age of 30, most patients will require more intense medical treatments like liver transplantation or ileal bypass surgery to lower their LDL levels to an acceptable point. (Citkowitz

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