Lipoprotein disorders and cardiovascular risk
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Summary: Disorders of lipoproteins often lead to disease in humans. Most often the sequelae of long-term dyslipoproteinaemia lead to atherosclerotic vascular disease in all arterial beds. Plasma elevation of low-density lipoprotein cholesterol (LDL-C), very low-density lipoproteins (VLDL) and lipoprotein(a), and reduced levels of high-density lipoproteins (HDL-C) are risk factors for coronary artery disease. Severe elevations of plasma triglycerides may lead to acute pancreatitis. In Western societies and in emerging economies, lifestyle contributes to the expression of lipoprotein disorders. Many dyslipoproteinaemias have a genetic aetiology. This review will examine the contribution of genetic lipoprotein disorders in human disease. Emphasis will be placed on monogenic disorders that are associated with coronary artery disease and novel causes of disorders of high-density lipoproteins. The consideration of screening and treatment of affected individuals, especially children, must take into account the severity of the phenotype, the long-term risk of developing vascular disease and available evidence of clinical benefit in a group of diseases that are mostly asymptomatic until manifestations of organ ischaemia in the heart, limbs or brain.
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