Abstract
The three major pathways of lipoprotein metabolism provide a superb paradigm to delineate systematically the familial dyslipoproteinemias. Such understanding leads to improved diagnosis and treatment of patients. In the exogenous (intestinal) pathway, defects in LPL, apoC-II, APOA-V, and GPIHBP1 disrupt the catabolism of chylomicrons and hepatic uptake of their remnants, producing very high TG. In the endogenous (hepatic) pathway, six disorders affect the activity of the LDLR and markedly increase LDL. These include FH, FDB, ARH, PCSK9 gain-of-function mutations, sitosterolemia and loss of 7 alpha hydroxylase. Hepatic overproduction of VLDL occurs in FCHL, hyperapoB, LDL subclass pattern B, FDH and syndrome X, often due to insulin resistance and resulting in high TG, elevated small LDL particles and low HDL-C. Defects in APOB-100 and loss-of-function mutations in PCSK9 are associated with low LDL-C, decreased CVD and longevity. An absence of MTP leads to marked reduction in chylomicrons and VLDL, causing abetalipoproteinemia. In the reverse cholesterol pathway, deletions or nonsense mutations in apoA-I or ABCA1 transporter disrupt the formation of the nascent HDL particle. Mutations in LCAT disrupt esterification of cholesterol in nascent HDL by LCAT and apoA-1, and formation of spherical HDL. Mutations in either CETP or SR-B1 and familial high HDL lead to increased large HDL particles, the effect of which on CVD is not resolved. The major goal is to prevent or ameliorate the major complications of many familial dyslipoproteinemias, namely, premature CVD or pancreatitis. Dietary and drug treatment specific for each inherited disorder is reviewed.
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Abbreviations
- CVD:
-
Cardiovascular disease
- TG:
-
Triglycerides
- CE:
-
Cholesteryl esters
- PL:
-
Phospholipids
- FC:
-
Free (unesterified) cholesterol
- VLDL:
-
Very low density lipoproteins
- LDL:
-
Low density lipoproteins
- HDL:
-
High density lipoproteins
- IDL:
-
Intermediate density lipoproteins
- CM:
-
Chylomicrons
- IBAT:
-
Intestinal bile acid transporter
- FFA:
-
Free fatty acids
- NP C-1 L-1:
-
Niemann Pick C-1L-1
- ABCG5/ABCG8:
-
ATP-binding cassette transporter 5 and 8
- MGAT:
-
acyl-CoA monoglycerolacyltransferase
- DGAT:
-
acyl-CoA diglycerolacyltransferase
- apoB-48:
-
Apolipoprotein B-48
- apoB-100:
-
Apolipoprotein B-100
- ACAT:
-
Acyl cholesterol acyltransferase
- LPL:
-
Lipoprotein lipase
- LRP:
-
Low density lipoprotein-like receptor protein
- LDLR:
-
Low density lipoprotein receptor
- HMG-CoA reductase:
-
Hydroxymethylglutaryl co-enzyme A reductase
- MTP:
-
Microsomal triglyceride transport protein
- apoC-I:
-
Apolipoprotein C-I
- apoC-II:
-
Apolipoprotein C-II
- apoC-III:
-
Apolipoprotein C-III
- ARH:
-
Autosomal recessive hypercholesterolemia
- SREBP:
-
Sterol regulatory element binding protein
- PCSK9:
-
Proprotein convertase subtilisin-like kexin type 9
- SCAP:
-
SREBP cleavage activating protein
- SRE:
-
Sterol response element
- SRA1:
-
Scavenger receptor class-A1
- CD36:
-
Cluster of differentiation 36
- ABCA1:
-
ATP-binding cassette transporter 1
- CETP:
-
Cholesterol ester transfer protein
- LCAT:
-
Lecithin cholesteryl acyl transferase
- HL:
-
Hepatic lipase
- PLTP:
-
Phospholipid transfer protein
- SR-BI:
-
Scavenger receptor class B type 1
- PDZK1:
-
PDZ-domain-containing protein
- BAS:
-
Bile acid sequestrants
- BA:
-
Bile acids
- GPR109A:
-
G-protein-coupled receptor 109A
- PPARα:
-
Peroxisome proliferator activated receptor alpha
- AIM-HIGH:
-
Atherothrombosis Intervention in Metabolic Syndrome With Low HDL/High Triglycerides: Impact on Global Health Outcomes
- FH:
-
Familial hypercholesterolemia
- LXR:
-
Liver X receptor
- GLP-1:
-
Glucagon-like peptide-1
- FDB:
-
Familial defective apoB-100
- FCHL:
-
Familial combined hyperlipidemia
- hyperapoB:
-
Hyperapobetalipoproteinemia
- USF1:
-
Upstream stimulatory factor 1
- TCF7L2:
-
Transcription factor 7-like 2
- HNF4alpha:
-
Hepatocyte nuclear factor 4
- IGT:
-
Impaired glucose tolerance
- GPIHBP1:
-
Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1
- PHLA:
-
Postheparin lipolytic activity
- FHT:
-
Familial hypertriglyceridemia
- MCT:
-
Medium-chain triglycerides
- EL:
-
Endothelial lipase
- CRD:
-
Chylomicron retention disease
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Conflict of Interest
Peter O. Kwiterovich, Jr. has received grant support from Merck, Inc., Pfizer, Abbott/NIH, SmithKlineBeecham, and Amarin. He has also received travel/accommodations expenses covered or reimbursed from Merck, Sanofi, and Aegerion.
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This article is part of the Topical Collection on Lipid Abnormalities and Cardiovascular Prevention
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Kwiterovich, P.O. Diagnosis and Management of Familial Dyslipoproteinemias. Curr Cardiol Rep 15, 371 (2013). https://doi.org/10.1007/s11886-013-0371-5
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DOI: https://doi.org/10.1007/s11886-013-0371-5