Familial Hypercholesterolemia By James Chabot And Meth L
Familial Hypercholesterolemia By James Chabot And Meth L.
Chromosome, Genes, and Proteins that are affected by this disorder: ● Familial-Hypercholesterolemia has been shown to result in mutations in 2 genes, chromosome 19 and 21. ● The 2 genes that are affected are The Low Density Lipoprotein (LDL) and Apolipoprotein B.
Genetic Effects ● It affects 1 in 500 people in the most countries. ● These growths of cholesterol most often affect the achilles tendons in the hands and fingers.
Affected Organs ● It occurs when there is too much cholesterol in the body. High cholesterol raises your risk for heart diseases, heart attack, and stroke.
Symptoms and long term prognosis ● Symptoms that may occur include: Fatty deposits called xanthomas over parts of the hands, elbows, ankles, and around the corner of the eye. ● Familial hypercholesterolemia is a disorder that can be passed down through families. This condition begins at birth and can cause heart attacks at an early age.
People that are affected Siblings and children of a person with Fh have a 50 percent risk of getting the defect.
Genetic disorder inherited ● Inherited forms of hypercholesterolemia resulting from mutations in the LDLR, APOB, or PCSK 9 gene have an autosomal dominant pattern of inheritance.
Familial Hypercholesterolemia facts ● Fh is a heredity high blood cholesterol problem. If a parents has the FH gene ther is a 1 in 2 chance that their child will have Fh.
More facts of Fh ● When a person has Fh, the liver cannot clear cholesterol out of the body in the usual way. People with have extremely high blood cholesterol levels as infants or children.
Work Cited “Genetics Home Reference. ”Hypercholesterolemia“Department of Health and Human services Reviewed March 2007. Published December 16 2014
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