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Familial combined hyperlipidemia
Alternative namesMultiple lipoprotein-type hyperlipidemia
DefinitionThis is an inherited disorder of high serum cholesterol and/or high blood triglycerides People with this condition have an increased risk of cardiovascular disease.
Causes, incidence, and risk factors
This disease is genetic and inherited, although the specific defective genes have not been identified. The person's cholesterol or triglyceride levels become elevated during the teenage years and continue throughout life. The types of elevated lipoproteins may vary between affected family members.
Cholesterol deposits in the skin, called xanthomas, which are seen in other disorders of elevated lipoproteins are rarely seen in this disorder. This disorder predisposes the person to greater risk of early coronary artery disease and therefore, heart attacks. People with the condition have a higher rate of obesity and glucose intolerance.
The condition is worsened by diabetes , alcoholism , and hypothyroidism . Risk factors are a family history of high cholesterol and early coronary artery disease. This is the most common disorder of increased blood fats that causes early heart attacks. The rare person who gets 2 defective genes is at much higher risk for early heart attack due to very high blood fat (cholesterol or triglyceride) levels.
Signs and tests
The goal of treatment is to reduce the risk of atherosclerotic heart disease .
Further reductions in dietary fat may be recommended after the initial trial period. 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.
Drug therapy may be initiated if diet, exercise, and weight loss efforts have not reduced the cholesterol levels after an adequate trial period. Various cholesterol reducing agents are available including:
Expectations (prognosis)The probable outcome is related to early diagnosis and treatment and compliance with therapy. Untreated people are at risk for shortened life span due to heart attack and stroke. The person with 2 defective genes has such high lipids that they are unlikely to be able to reduce their risk of coronary artery disease to normal. Therefore, they are at increased risk of heart attack despite medical therapy.
ComplicationsA complication is early atherosclerotic heart disease or myocardial tissue death due to lack of blood (infarction). The fatty deposits can affect the blood vessels to the brain causing an increase risk for stroke.
Calling your health care providerCall your health care provider if you experience warning symptoms of heart attack or your screening total cholesterol or triglycerides was found to be high.
Update Date: 8/21/2003Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
Last updated: Tue, 06 Jan 2009 00:20:03 GMT