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Pathway Description
Hypercholesterolemia
Homo sapiens
Disease Pathway
Created: 2022-11-08
Last Updated: 2023-10-25
Hypercholesterolemia, also called elevated cholesterol, is an autosomal dominant disorder caused by a defective LDLR gene. The LDLR gene codes for a receptor that binds to low-density lipoprotein which are carriers of cholesterol in the blood. The mutation on the LDLR gene causes the removal of cholesterol from the bloodstream to be limited, resulting in a buildup of cholesterol in the blood. This disorder is characterized by a large accumulation of cholesterol in the blood. Symptoms of the disorder include angina, tendon xanthomas increased risk of cardiac arrest. Treatment with atorvastatin, simvastatin or rosuvastatin, in combination with a heart healthy diet and regular exercise is very effective. It is estimated that hypercholesterolemia affects 1 in 500 individuals in most countries.
References
Hypercholesterolemia References
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Pubmed: 11313768
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Pubmed: 14730012
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Pubmed: 8663599
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Pubmed: 10026212
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