RT Book, Section A1 Umana, Luis A. A1 J. Craigen, William A2 Kline, Mark W. SR Print(0) ID 1182930115 T1 Disorders of Lipid and Lipoprotein Metabolism T2 Rudolph's Pediatrics, 23e YR 2018 FD 2018 PB McGraw-Hill Education PP New York, NY SN 9781259588594 LK accesspediatrics.mhmedical.com/content.aspx?aid=1182930115 RD 2024/11/13 AB Disorders of lipid and lipoprotein metabolism are characterized by dyslipidemia, which is defined as either elevated or low levels of 1 or more of the major lipoprotein classes: chylomicrons, very-low-density lipoproteins (VLDLs), low-density lipoproteins (LDLs), and high-density lipoproteins (HDLs). Dyslipidemia can result from a mutation in a single gene that plays an important role in lipoprotein metabolism. However, more commonly, dyslipidemia reflects the influence of multiple genes. Environmental influences such as excessive dietary intake of fat and calories and limited physical activity, particularly when associated with obesity, can also contribute significantly to dyslipidemia. Much of what has been learned about dyslipidemia derives from studies of rare single-gene disorders. This chapter presents a theoretical and practical approach to the diagnosis and treatment of dyslipidemia in infants, children, and adolescents. The major clinical complication of dyslipidemia is a predilection to atherosclerosis starting early in life and leading to cardiovascular disease (CVD) in adulthood. At the extremes of dyslipidemia, where inherited disorders of lipid and lipoprotein metabolism are more likely to occur, premature CVD is more frequent and can be accompanied by deposition of lipid in various tissues. Conversely, certain single-gene loss-of-function mutations may also protect the individual from CVD, providing insights into novel therapies. Children with profound hypertriglyceridemia are at high risk of pancreatitis.