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Familial Hypercholesterolemia

Familial Hypercholesterolemia. By: Trevor Schmitt, Sam Muccione , and Alex Boniakowski. Definition: .

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Familial Hypercholesterolemia

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  1. Familial Hypercholesterolemia By: Trevor Schmitt, Sam Muccione, and Alex Boniakowski

  2. Definition: Familial hypercholesterolemia is a disorder of high LDL ("bad") cholesterol that is passed down through families, which means it is inherited. The condition begins at birth and can cause heart attacks at an early age.

  3. Symptoms: Symptoms that may occur include: •Fatty skin deposits called xanthomas over the elbows, knees, buttocks, tendons, and around the cornea of the eye. See an example. •Cholesterol deposits in the eyelids (xanthelasmas). Picture. •Chest pain (angina) or other signs of coronary artery disease; may be present at a young age.

  4. Treatments: (Lifestyle Changes) The goal of treatment is to reduce the risk of atherosclerotic heart disease. Those who inherit only one copy of the defective gene may respond well to diet changes combined with statin drugs. Diet changes include reducing total fat intake to less than 30% of the total calories you eat. You can reduce your saturated fat intake by: •Decreasing amounts of beef, chicken, pork, and lamb •Substituting low-fat dairy products for full-fat ones •Eliminating coconut and palm oils You can reduce your the amount of cholesterol you eat by eliminating egg yolks and organ meats. Dietary counseling is often recommended to help people make these adjustments to their eating habits. Weight loss and regular exercise may also aid in lowering cholesterol levels.

  5. Treatments: (Medications) There are several types of drugs available to help lower blood cholesterol levels, and they work in different ways. Some are better at lowering LDL cholesterol, some are good at lowering triglycerides, while others help raise HDL cholesterol. The most commonly used and effective drugs for treating high LDL cholesterol are called statins. Those with more severe forms of this disorder may need a treatment called extracorporeal apheresis. This is the most effective treatment. Blood or plasma is removed from the body. Special filters then remove the extra LDL-cholesterol, and the blood plasma is then returned.

  6. Genetics: Inherited forms of hypercholesterolemia resulting from mutations in the LDLR, APOB, or PCSK9 gene have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to cause the disorder. An affected person typically inherits one altered copy of the gene from an affected parent and one normal copy of the gene from the other parent. When hypercholesterolemia is caused by mutations in the LDLRAP1 gene, the condition is inherited in an autosomal recessive pattern. Autosomal recessive inheritance means the condition results from two altered copies of the gene in each cell. The parents of an individual with autosomal recessive hypercholesterolemia each carry one copy of the altered gene, but their blood cholesterol levels are usually in the normal range.

  7. The End!

  8. http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001429/ http://www.nlm.nih.gov/medlineplus/ency/article/000392.htm Sources:

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