What is Hypercholesterolaemia

Hypercholesterolaemia is defined as elevated amounts of cholesterol in the blood. Cholesterol is a waxy, fat-like substance that is naturally found in the walls of cells. It is used by the body to produce certain hormones, vitamin D, and bile acids that help to digest fat. If the amounts of cholesterol in the blood are excessive, cholesterol can build up in arteries, which can lead to coronary heart disease and many other serious conditions.

Plaque formation

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Statistics on Hypercholesterolaemia

Nonfamilial (non-inherited) hypercholesterolaemia is the most common form of hypercholesterolaemia. It occurs in occurs in people with a susceptible genotype which is aggravated by excessive intake of saturated fats and cholesterol.
Familial hypercholesterolemia is an inherited genetic disorder. The children of people with familial hypercholesterolemia may inherit either the normal gene or the defective gene, so the prevalence within that family will be approximately 50%. It is the most common potentially fatal genetic disorder and affects somewhere between 1/200 to 1/500 Australians.

Risk Factors for Hypercholesterolaemia

Predisposing factors for high cholesterol levels (hypercholesterolaemia) include:

While some factors cannot be altered by changes in lifestyle, many can be changed. The most important risk factors related to high cholesterol are:

  • Obesity
  • Diets high in saturated fat and trans fatty acids
  • Low fibre in the diet
  • Physical inactivity
  • Stress
  • Smoking cigarettes
  • Living in an industrialised country
  • Underactive thyroid
  • Diabetes
  • Polycystic ovary syndrome

In most cases, elevated cholesterol levels are associated with an overly fatty diet coupled with an inactive lifestyle.

Progression of Hypercholesterolaemia

A number of complications may occur if high cholesterol is left untreated. These include:

  • Heart disease: One of the leading cause of death in Australia. Elevated cholesterol levels more than doubles the risk of heart attack.
  • Stroke
  • Insulin resistance: Many people diagnosed as being insulin resistant then go on to develop diabetes.

Symptoms of Hypercholesterolaemia

Hypercholesterolaemia is often an asymptomatic condition (meaning it displays no symptoms) and is usually discovered during routine screening. In some cases it can be a genetic disorder, so your doctor will ask you several questions about the health of other members of your family. A history of stroke, heart attack or sudden death in your immediate family will point towards a genetic condition, namely familial hypercholesterolaemia. Your doctor may draw a family tree so other at-risk members can be identified and followed up, although some family members can be reluctant to be involved due to confidentiality issues.

Clinical Examination of Hypercholesterolaemia

HypercholesterolaemiaIn its advanced state, high cholesterol may result in any of the following:

How is Hypercholesterolaemia Diagnosed?

As symptoms of high cholesterol won’t become evident until it is possibly too late, blood screening is essential for early diagnosis. An initial blood test is done to check a “random” measurement of total and HDL cholesterols, meaning that the test is performed at any time during the day, regardless of what has been eaten.
Those with abnormal levels will go on to have a fasting lipid profile test (in which the person being tested refrains from eating for 8-12 hours, usually overnight, prior to the test). The fasting test will indicate whether or not total cholesterol levels fall within the normal range, are moderately high, or if they are in the very high range.

Prognosis of Hypercholesterolaemia

The risk of complications of hypercholesterolaemia can be significantly reduced by therapies that lower serum cholesterol levels.
Lowering cholesterol by 1% reduces the risk of coronary artery disease by 2%.
The treatment of other modifiable risk factors such as smoking, high blood pressure and diabetes will further decreases the risk of complications of hypercholesterolaemia.
Maintaining an appropriate weight, eating a low fat diet and exercising can also have a significant impact on cholesterol levels and improve long-term outcomes.

How is Hypercholesterolaemia Treated?

The primary concern in hypercholesterolaemia treatment is to reduce the risk of cardiovascular diseases, such as heart disease and stroke, by lowering blood cholesterol levels. If you are thought to have a genetic form of this disorder, treatment may be started at a very young age. In addition, genetic counselling and family screening may be considered in your treatment plan. People who benefit most from lowering their cholesterol are those who already have heart disease or who have multiple risk factors for the disease.
In addition to lifestyle changes, specific cholesterol-lowering medications are often prescribed.

LDL Cholesterol Levels Calculator
This risk assessment tool is based on data from the National Cholesterol Education Program and the findings of the Adult Treatment Panel III to classify your LDL, HDL, total cholesterol and triglyceride levels.
PREDICTORS RESPONSE
Age years
Gender Male Female
Do you have any of the following? Yes No
Coronary heart disease
Carotid artery disease (symptomatic)
Peripheral arterial disease
Abdominal aortic aneurysm
Diabetes
Do you have a family history of premature coronary heart disease (males <55yrs; female <65yrs) in a first degree relative?
Are you a smoker?*
Is your blood pressure > 140/90 or are you prescribed medication to lower your blood pressure?**
What is your LDL cholesterol*** mg/dl
HDL cholesterol*** mg/dl
Total cholesterol*** mg/dl
Triglycerides*** mg/dl
*For these purposes “smoker” means any cigarette smoking in the past month
**Use current blood pressure, regardless of whether the person is on antihypertensive therapy.
***Cholesterol and triglyceride values should be the average of at least two measurements obtained from lipoprotein analysis

Results

We have identified that you have one or more risk factor/s for developing cardiovascular disease. It may be advisable to talk with your General Practitioner to further assess your risk and optimal cholesterol levels to aim for.

LDL Cholesterol

your LDL level falls within the optimal range. No specific intervention is required, just maintain a healthy lifestyle.
your LDL levels are slightly above optimal. You should discuss appropriate lifestyle changes with your General Practitioner.
your LDL level is higher than what is considered optimal. You should consult your General Practitioner to discuss methods of lowering this level. This may include lifestyle changes and/or medication.
please enter your LDL Cholesterol level.

HDL Cholesterol

your HDL level falls within the optimal range. No specific intervention is required, just maintain a healthy lifestyle.
Your HDL cholesterol is in the normal range.
your HDL level is lower than what is considered optimal. You should consult your General Practitioner to discuss methods of raising this level. This may include lifestyle changes and/or medication.
please enter your HDL cholesterol level.

Total Cholesterol

your total cholesterol level is appropriate for your age and gender. However more important than the total level is the individual components, LDL and HDL. Optimally, your LDL should be low and your HDL high, check above to see that your level for these is optimal.
your total cholesterol level is higher than what is considered optimal. You may like to discuss this with your General Practitioner and also assess the level of the individual components, LDL and HDL.
please enter your total cholesterol level.

Triglycerides

your level of triglycerides falls within the optimal range. No specific intervention is required, just maintain a healthy lifestyle.
your triglyceride level is higher than what is considered optimal. You may like to discuss these results with your General Practitioner.
please enter your triglyceride level.
Reference
National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III). Third Report of the National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III) final report. Circulation 2002; 106: 3143–3421.

This information will be collected for educational purposes, however it will remain anonymous.


Lifestyle changes

Changes in lifestyle are considered the most effective means of both preventing and, in less severe cases, treating elevated LDL cholesterol levels. The cornerstone of this treatment strategy is  dietary modification and exercise.
In addition to little fat and cholesterol, lean protein (such as soy and fish), and lots of fruits and vegetables, diets should include:

  • Soluble fibres, such as psyllium, which have a cholesterol lowering effect.
  • Soy, which reduces total cholesterol.
  • Antioxidants, which, when consumed in high amounts, have been associated with lowered risk of cardiovascular disease (vitamin E appears to be of particular value).
  • Omega-3 fatty acids, which may lower the chance of recurrent heart attacks and death from heart disease.
  • Folic acid supplements, which may improve the function of the blood vessels in those with high cholesterol and reduce the risk of heart disease.

Medications
Medications that are used in the treatment of hypercholesterolaemia include:

  • HMG-CoA reductase inhibitors (statins)
  • Bile acid sequestering resins
  • Hormone replacement therapy
  • Nicotinic acid
  • Fibrates such as gemfibrozil

The National Heart Foundation of Australia target levels for lipid modifying therapy are:

  • Total cholesterol < 4.0 mmol/L
  • LDL-C < 2.5 mmol/L
  • HDL-C > 1.0 mmol/L
  • Triglycerides < 2.0 mmol/L

Alternative treatments other than medicinal are:

  • Red yeast rice
  • Fenugreek
  • Guggulipid

More information

Cholesterol
For more information on cholesterol, including the health effects of high cholesterol and ways to lower cholesterol levels, as well as some useful tools, see Cholesterol.
Nutrition
For more information on nutrition, including information on types and composition of food, nutrition and people, conditions related to nutrition, and diets and recipes, as well as some useful videos and tools, see Nutrition.

Hypercholesterolaemia References

  1. Citkowitz E. Hypercholesterolemia, familial [online]. Omaha, NE: WebMD eMedicine; 2006 [cited 23 August 2006]. Available from: URL link
  2. Kumar P, Clark M (eds). Clinical Medicine (5th edition). Edinburgh: WB Saunders Company; 2002. Book
  3. Grundy SM, Bilheimer D, Chait A, et al. Summary of the second report of the National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel II). JAMA. 1993;269(23):3015-23. Abstract
  4. Ornish D, Brown SE, Scherwitz LW, et al. Can lifestyle changes reverse coronary heart disease? The Lifestyle Heart Trial. Lancet. 1990;336(8708):129-33. Abstract
  5. Guidelines for the diagnosis and management of familial hypercholesterolaemia [online]. Sydney, NSW: Cardiac Society of Australia and New Zealand; 2005 [cited 23 August 2006]. Available from: URL link
  6. Woodhouse S. A Common but Nearly Forgotten Life Threatening Disorder. Brisbane, QLD: University of Queensland; 2005.

Drugs/Products Used in the Treatment of This Disease:

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