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Familial Hypercholesterolemia

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Topic: Familial hypercholesterolemia
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Sort Desciption: Familial hypercholesterolemia (FH) is a genetically inherited lipid disorder that leads to asustained increase in low-density lipoprotein (LDL) cholesterol. LDL cholesterol is oftenreferred to as "bad" cholesterol and is directly linked to heart problems. ...

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Why is Familial Hypercholesterolemia an emerging public health issue?

Familial hypercholesterolemia (FH) is a genetically inherited lipid disorder that leads to asustained increase in low-density lipoprotein (LDL) cholesterol. LDL cholesterol is oftenreferred to as "bad" cholesterol and is directly linked to heart problems. The increased LDLlevels associated with FH eventually lead to early onset of heart and artery disease. This issignificant because 59 million Americans have some form of cardiovascular disease. Coronaryheart disease, on of the most common results of FH, is thought to be responsible for as many as1out of every 5 deaths. Coronary heart disease is the single largest killer of American males andfemales and often takes the lives of people at the peak of their productivity. Through researchand a better understanding of lipid disorders we can develop better detection and treatment plans. FH offers an opportunity to observe long term affects of cholesterol in a population wherecholesterol becomes a problem at the molecular level. This knowledge has the potential toimprove the quality of life for all sufferers of cardiovascular disease.

What is FH?

FH, also known as Type IIA hyperlipoproteinemia or Hypercholesterolemic xanthomatosis, is aninherited disorder that greatly increases the level of LDL cholesterol in the blood. In order for thewater based aspect of blood to mix well with lipids (oil) in the circulatory system a water lovingpackage is used to surround the lipid. This packaging (LDL and others) helps to keep our bloodfrom separating like oil and water. LDL therefore transports cholesterol through the blood to theliver where it is processed and disposed of. In FH there is a mutation in the LDL receptor geneon chromosome 19. This mutation leads to an inability in mostly liver cells to bind and transportLDL to the inside of the cell. Once inside LDL is broken down to release the cholesterol for useas a repressor for further cholesterol synthesis. As a result of FH, LDL builds in the blood aseven more cholesterol is synthesized. If the balance of cholesterol production and disposal is offthen cholesterol can fall out of the package and incorporate into surrounding tissues. This is howour arteries get clogged. In the general population it takes years and a fairly poor diet to causeincreased levels of LDL that lead to heart disease. In people with FH they have prolongedexposure to high levels of LDL from childhood.

It is thought that FH in itâ s heterozygous form occurs in around 1 in 500 people in Europe andNorth America. The occurrence of FH has an increased risk in South African Afrikaners, Jewishpopulations, and Indians. This increased prevalence (occurrence) is largely attributed to an earlycommon ancestor passing the gene on through a fairly isolated population.

What are the symptoms of FH?

General symptoms of FH include abnormally high cholesterol levels and normal triglyceridelevels. As a result, a person with FH will have very early onset of cardiovascular disease,especially coronary artery disease. Symptoms specific to FH include tendinous xanthomas whichis a clinical term for a buildup of cholesterol in the tendons. This buildup, when seen under theskin, is called xanthoma and has a waxy yellow appearance. Cholesterol deposits in the eyelidsare called xanthelasmas. These plaques are generally seen after 20 years of age in a heterozygote,but often in the first four years of life in a homozygote. ...

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