Familial Hypercholesterolemia
Short summary:
Familial hypercholesterolemia (FH) is a genetically inherited lipid disorder that leads to a sustained increase in low-density lipoprotein (LDL) cholesterol. LDL cholesterol is often referred to ...
Long summary:
Familial Hypercholesterolemia Why is Familial Hypercholesterolemia an emerging public health issue? Familial hypercholesterolemia (FH) is a genetically inherited lipid disorder that leads to a sustained increase in low-density lipoprotein (LDL) cholesterol. LDL cholesterol is often referred to as bad cholesterol and is directly linked to heart problems. The increased LDL levels associated with FH eventually lead to early onset of heart and artery disease. This is significant because 59 million Americans have some form of cardiovascular disease. Coronary heart disease, on of the most common results of FH, is thought to be responsible for as many as1 out of every 5 deaths. Coronary heart disease is the single largest killer of American males and females and often takes the lives of people at the peak of their productivity. Through research and 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 where cholesterol becomes a problem at the molecular level. This knowledge has the potential to improve the quality of life for all sufferers of cardiovascular disease. What is FH? FH, also known as Type IIA hyperlipoproteinemia or Hypercholesterolemic xanthomatosis, is an inherited disorder that greatly increases the level of LDL cholesterol in the blood. In order for the water based aspect of blood to mix well with lipids (oil) in the circulatory system a water loving package is used to surround the lipid. This packaging (LDL and others) helps to keep our blood from separating like oil and water. LDL therefore transports cholesterol through the blood to the liver where it is processed and disposed of. In FH there is a mutation in the LDL receptor gene on chromosome 19. This mutation leads to an inability in mostly liver cells to bind and transport LDL to the inside of the cell. Once inside LDL is broken down to release the cholesterol for use as a repressor for further cholesterol synthesis. As a result of FH, LDL builds in the blood as even more cholesterol is synthesized. If the balance of cholesterol production and disposal is off then cholesterol can fall out of the package and incorporate into surrounding tissues. This is how our arteries get clogged. In the general population it takes years and a fairly poor diet to cause increased levels of LDL that lead to heart disease. In people with FH they have prolonged exposure to high levels of LDL from childhood. It is thought that FH in its heterozygous form occurs in around 1 in 500 people in Europe and North America. The occurrence of FH has an increased risk in South African Afrikaners, Jewish populations, and Indians. This increased prevalence (occurrence) is largely attributed to an early common ancestor passing the gene on through a fairly isolated population. What are the symptoms of FH? General symptoms of FH include abnormally high ...
Source: www.pitt.edu
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