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 2024/04/23
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.