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Familial Hypercholesterolemia Essay

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Familial Hypercholesterolemia and Common Risk Factors Familial hypercholesterolemia is an inherited condition characterized by elevated levels of cholesterol in the blood, and is associated with LDL protein specifically (Huether & McCance, 2016). This condition can also have a genetic component, with both autosomal dominant and autosomal recessive forms of genetic mutations contributing to its formation (“Hypercholesterolemia”, 2017). These patterns of inheritance can influence the severity of the genes expression, as well as how it is passed down. While hypercholesterolemia can be caused by personal habits or genetics, there are some common risks associated with increased incidence. According to Ehrlich (2015), risk factors for the disease include diets high in saturated fatty acids, overweight and obesity, high blood pressure, and a history of smoking.
Signs and Symptoms …show more content…
Due to the excess cholesterol in the blood, buildups of cholesterol can occur in the tissues of the body. One such condition indicating the disease is tendon Xanthomas which are caused by a buildup of cholesterol in the tendons, and are most commonly found on the hands, fingers, and the Achilles (“What is…”, 2016). The patient interviewed does not have signs of these growths, but does exhibit the signs of cholesterol deposits on his eyelids, which are referred to as xanthelasmata. According to the patient, his brother showed signs of these buildups in the tissue as well, but has them on his hands and his Achilles tendon, and is probably related to poor management of the condition. It is also possible for cholesterol to “accumulate at the edges of the clear, front surface of the eye (the cornea), leading to a gray-colored ring called an arcus cornealis” which is caused by lipid deposits in the corneal stroma (“Hypercholesterolemia”,

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