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Familial Hypercholesterolemia

 
 
 
Familial hypercholesterolemia.. long name huh?
Well, you might know it by:
  • High Cholesterol
  • Type II hyperlipoproteinemia
  • Hypercholesterolemic xanthomatosis
  • Low density lipoprotein receptor mutation

 

 
 
What is Familial Hypercholesterolamia? I thought high cholesterol was from eating fatty foods?
 
The answer to that question is yes, but it can also be caused by genetic inheritance. High cholesterol is a genetic condition inherited at birth that results in abnormally high amounts of LDL (low-density lipoprotein) cholesterol levels.The mutation that causes this disease is shown on the 19th chromosome. The mutation occurs during the genetic encoding for the LDL receptors that are located on the surface of the liver cells. The LDL receptors' job is to pick up the circulating plasma LDL to be processed in the liver's cholesterol management. This activity results in the LDL particles not being recycled and circulating in the bloodstream, a condition of hypercholesterolemia. All conditions of Familal Hypercholesterolemia put many people at a much higher risk for stroke or heart attack at an early age.

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http://www.umm.edu/imagepages/9377.htm

 
 
Can I prevent Hyper Cholestesterolemia?
 
The use of newer medicines and good eating and exercising habits can bring lipid amounts down to a safer level. Genetic counseling may be a huge benefit to families in which both parents have Hyper Cholestesterolemia. Also, people from families with a history of early heart attacks should be evaluated with a lipid screen. This disease is a silent killer. It cannot be detected until chest pains of a heart attack or the symptoms of a stroke occur.

 
 
So, if one of my parents has Familial Hypercholesterolemia does that mean I have it?
 
Familial Hypercholesterolemia is a disease that is either inherited or not. A person with Familial Hypercholesterolemia has a 50% chance per child that they will pass on this disease. If the cholesterol levels are not high at birth, the child will never have Familial Hypercholesterolemia. Although cholesterol levels can be checked at birth, it is recommended that it is put off until the child is around the age of two. If a child has normal cholesterol levels at birth, they will not develop Familial Hypercholesterolemia later in life, nor will they pass the disease on to their offspring.

 
 
Although Familial Hypercholesterolemia is a silent killer, are there any obvious symptoms I should be looking for to prevent early heart attack or stroke?
 
  • A family history of familial hypercholesterolemia or early heart attack.
  • High levels of LDL in either or both parents.
  • Xanthomas (wounds caused by cholesterol rich lipoprotein deposits)
  • Xnthelasmas (Cholesterol deposits in the eyelids )
  • Chest pain associated with coronary artery disease.
  • Obesity or being overweight

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Since I am a male, do I have a higher risk of getting Familial Hypercholeterolemia or having a heart attack?
 
This disease does not target one gender or another, although heart attacks do occur earlier in men. 85% of men with this disease have endured a heart attack by the age of 60. Heart attacks in men usually occur around the age of 40 or 50. The chance of having a heart attack is also a lot higher for women who have this disorder, but heart attacks usually occur around 10 years later than in men, usually around the age of 60.

 
 
If I have Familial Hypercholesterolemia can I be treated?
 
This disease can be treated. The main goal of the treatments are to reduce the risk of atherosclerotic heart disease and heart attack.The first part of the treatment is changing your diet.This is used for a few months before the drug therapy if necessary starts. The diet change that is undertaken is reducing the total fat intake to less than 30% of the total calories consumed.You can reduce your saturated fat intake by lowering the amounts of beef, pork, and lamb, and substituting low-fat dairy products, and eliminating coconut and palm oil. Cholesterol can be lowered by elimating the consumption of egg yolks, organ meats, and sources of animal-derived saturated fat.Fat intake in the diet may still be recommended after the first dietary change. Dietary counseling may also be recommended for people with issues adjusting their eating habits. Another big aid in weight loss, which contribuites to fighting this disorder, and lowering cholesterol levels is exercising regularly. If all efforts to reduce cholesterol from diet, exercise, and weight loss do not succeed, drug therapy may be used. There are also cholesterol-reducing drugs available. These drugs include:
  •  Bile acid sequestrant resins (cholestyramine and colestipol)
  •  Nicotinic Acid(niacin)
  •  Statin drugs
  •  Gemfibrozil
  •  Fenofibrate

 
 
What is the prognosis of Familial Hypercholesterolemia?
 
The prognosis in homozygous types of Familial Hypercholesterolemia is not a very long lifespan, usually aorund the age of forty or fifty, because it causes early heart attacks and the resistence to the treatment. The prognosis in other types of Familial Hypercholesterolemia is really dependent upon the person's response and cooperation of the treatments, although the lifespan is quite a bit longer, usually all the way past the sixties, and this type of Familial Hypercholesterolemia may not even be deadly.

The Familial Hypercholesterolemia Foundation
Want to Save Lives?
 
If you're interested in saving lives, you have come to the right place! The goal for this year's foundation is 2 million dollars. Because of generous donors, we have already reached an amazing 300,000 dollars. Wow! If you would like to take part in fighting this disorder and helping those less fortunate pay for the many treatments of this terrible disease, you can send your donation online to www.FHF.com or call at 1-888-555-6453.

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Special Thanks To :
 
"Familial Hypercholesterolemia" 2007. Maryland University. 16 January 2008
 
"Familial Hypercholesterolemia" 2008. MEDPED. 16 January 2008 http://www.medped.org/MEDPED-What-is-FH.html
 
"Familial Hypercholesterolemia" 2007. Wikipedia. 16 January 2008