Definition Familial combined hyperlipidaemia is an inherited disease that causes high levels of cholesterol and/or triglycerides in the blood.
What is going on in the body? This condition may cause high cholesterol, high triglycerides, or both. These are each two types of fat in the body. Normally, the liver makes a low amount of cholesterol. When a person has this disease, the liver produces too much cholesterol. Other problems occur with fat metabolism, too. These problems depend on which specific abnormal gene was inherited.
This condition increases a person's risk of having clogged arteries from arteriosclerosis, which may lead to a heart attack, stroke, or other complications.
What are the signs and symptoms of the condition? This condition often causes no symptoms. Once the arteries become clogged, a heart attack, stroke, or other problems may occur.
What are the causes and risks of the condition? This condition is inherited and is autosomal dominant.
What can be done to prevent the condition? An inherited condition cannot be prevented once a person is born. Genetic counselling may be helpful to couples with a family history of the disease.
How is the condition diagnosed? This condition is diagnosed by the family history and cholesterol screening. The cholesterol and the triglyceride level in the blood are often high.
What are the long-term effects of the condition? A person with this disease has an increased risk of clogged arteries from arteriosclerosis. For example, an affected person is 4 times more likely than normal to have a heart attack. Clogged arteries may lead to heart disease, a heart attack, stroke, and other problems.
What are the risks to others? This condition is inherited and is not contagious. Children and other family members of the affected person should have cholesterol screening. Early detection and treatment of this disease may delay artery blockage.
What are the treatments for the condition? Anyone with this condition should speak to a doctor about treatment. This disease responds to diet changes and weight loss. A low-fat, low-kilojoule diet and exercise are advised. Reducing other coronary risk factors is important. It is wise to avoid smoking and obesity. Any high blood pressure, and diabetes should be treated.
The following conditions may worsen the cholesterol level, and should be avoided or treated:
Treatment usually requires medication, often with more than one type of medication. Examples of medication used include bile acid resins, statins, and niacin.
What are the side effects of the treatments? Because the liver makes cholesterol, most of the medications that treat cholesterol may affect the liver. For this reason, someone taking medications to lower cholesterol often needs periodic liver function tests.
Specific side effects vary by the medication, but may include:
constipation with bile acid resins, such as cholestyramine and colestipol
flushing, itching, and increased blood sugar with niacin
muscle aches with statin drugs, such as atorvastatin, fluvastatin, pravastatin, and simvastatin
What happens after treatment for the condition? Treatment is generally required for life.
How is the condition monitored? Repeated checks of the cholesterol level in the blood are done to see how well the treatment is working. Someone taking cholesterol-lowering medications will need periodic liver function tests. Chest pain or pressure or shortness of breath should be reported to a doctor right away. This may be a sign of a heart attack.
Author: Evan M. Sisson, Pharm.D., MHA, CDE Reviewer: eknohow Medical Review Panel Editor: Dr John Hearne Last Updated: 22/11/2004 Contributors Potential conflict of interest information for reviewers available on request
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