DISBETALIPOPROTEINEMIA FAMILIAR PDF

Purpose of review: To review pathophysiological, epidemiological and clinical aspects of familial dysbetalipoproteinemia; a model disease for remnant metabolism and remnant-associated cardiovascular risk. Recent findings: Familial dysbetalipoproteinemia is characterized by remnant accumulation caused by impaired remnant clearance, and premature cardiovascular disease. The prevalence of familial dysbetalipoproteinemia ranges from 0. Clinical characteristics of familial dysbetalipoproteinemia are xanthomas and mixed hyperlipidemia high total cholesterol and triglycerides ; the primary lipid treatment goal in familial dysbetalipoproteinemia is non-HDL-cholesterol; and treatment consists of dietary therapy and treatment with statin and fibrate combination. Summary: Familial dysbetalipoproteinemia is a relatively common, though often not diagnosed, lipid disorder characterized by mixed hyperlipidemia, remnant accumulation and premature cardiovascular disease, which should be treated with dietary therapy and statin and fibrate combination. This site needs JavaScript to work properly.

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Purpose of review: To review pathophysiological, epidemiological and clinical aspects of familial dysbetalipoproteinemia; a model disease for remnant metabolism and remnant-associated cardiovascular risk. Recent findings: Familial dysbetalipoproteinemia is characterized by remnant accumulation caused by impaired remnant clearance, and premature cardiovascular disease. The prevalence of familial dysbetalipoproteinemia ranges from 0. Clinical characteristics of familial dysbetalipoproteinemia are xanthomas and mixed hyperlipidemia high total cholesterol and triglycerides ; the primary lipid treatment goal in familial dysbetalipoproteinemia is non-HDL-cholesterol; and treatment consists of dietary therapy and treatment with statin and fibrate combination.

Summary: Familial dysbetalipoproteinemia is a relatively common, though often not diagnosed, lipid disorder characterized by mixed hyperlipidemia, remnant accumulation and premature cardiovascular disease, which should be treated with dietary therapy and statin and fibrate combination.

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Similar articles Autosomal dominant familial dysbetalipoproteinemia: A pathophysiological framework and practical approach to diagnosis and therapy. Koopal C, et al. J Clin Lipidol. Epub Oct PMID: Review. Boot CS, et al. Clin Chem. Epub Dec PMID: Vascular risk factors, vascular disease, lipids and lipid targets in patients with familial dysbetalipoproteinemia: a European cross-sectional study.

Epub Feb Dysbetalipoproteinemia: an extreme disorder of remnant metabolism. Marais D. Curr Opin Lipidol. Corsetti JP, et al. Clin Biochem. Epub Nov Show more similar articles See all similar articles. Chait A, et al. Le R, et al. Publication types Review Actions. Diet Therapy Actions. Humans Actions. Risk Factors Actions. Lipoproteins Actions. Triglycerides Actions. Full-text links [x] Wolters Kluwer. Copy Download.

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Familial Dysbetalipoproteinemia: An Underdiagnosed Lipid Disorder

Familial dysbetalipoproteinemia or type III hyperlipoproteinemia is a condition characterized by increased total cholesterol and triglyceride levels, and decreased HDL levels. Signs of familial dysbetaproteinemia include xanthoma striatum palmare orange or yellow discoloration of the palms and tuberoeruptive xanthomas over the elbows and knees. The disease leads to premature atherosclerosis and therefore a possible early onset of coronary artery disease and peripheral vascular disease leading to a heart attack, i. This condition is caused by a mutation in apolipoprotein E ApoE , that serves as a ligand for the liver receptor for chylomicrons , IDL and VLDL , also known as very-low-density-lipoprotein receptor. The normal ApoE turns into the defective ApoE2 form due to a genetic mutation. From Wikipedia, the free encyclopedia. This section is empty.

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Familial dysbetalipoproteinemia

Familial dysbetalipoproteinemia is a disorder passed down through families. It causes high amounts of cholesterol and triglycerides in the blood. A genetic defect causes this condition. The defect results in the buildup of large lipoprotein particles that contain both cholesterol and a type of fat called triglycerides.

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Familial dysbetalipoproteinemia type III hyperlipoproteinemia is a potentially underdiagnosed inherited dyslipidemia associated with greatly increased risk of coronary and peripheral vascular disease. The mixed hyperlipidemia observed in this disorder usually responds well to appropriate medical therapy and lifestyle modification. Although there are characteristic clinical features such as palmar and tuberous xanthomata, associated with dysbetalipoproteinemia, they are not always present, and their absence cannot be used to exclude the disorder. Read More. Purpose Of Review : With the exception of familial hypercholesterolaemia, the value of genetic testing for managing dyslipidaemias is not established. We review the genetics of major dyslipidaemias in context of clinical practice.

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