Diagnosis and management of familial dyslipoproteinemias

Curr Cardiol Rep. 2013 Jun;15(6):371. doi: 10.1007/s11886-013-0371-5.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Apolipoprotein A-I / blood
  • Apolipoprotein A-V
  • Apolipoprotein C-II / blood
  • Apolipoproteins A / blood
  • Apolipoproteins B / blood
  • Cardiovascular Diseases / blood
  • Cardiovascular Diseases / prevention & control*
  • Cardiovascular Diseases / therapy
  • Cholesterol, HDL / blood
  • Cholesterol, LDL / blood
  • Coronary Artery Disease / blood
  • Coronary Artery Disease / prevention & control*
  • Coronary Artery Disease / therapy
  • Dyslipidemias / blood
  • Dyslipidemias / diagnosis*
  • Dyslipidemias / therapy
  • Female
  • Humans
  • Male
  • Pancreatitis / blood
  • Pancreatitis / prevention & control*
  • Pancreatitis / therapy
  • Peptide Fragments / blood
  • Proprotein Convertase 9
  • Proprotein Convertases / blood
  • Receptors, Lipoprotein / blood
  • Serine Endopeptidases / blood
  • Triglycerides / blood

Substances

  • APOA5 protein, human
  • Apolipoprotein A-I
  • Apolipoprotein A-V
  • Apolipoprotein C-II
  • Apolipoproteins A
  • Apolipoproteins B
  • Cholesterol, HDL
  • Cholesterol, LDL
  • GPIHBP1 protein, human
  • Peptide Fragments
  • Receptors, Lipoprotein
  • Triglycerides
  • apolipoprotein C-II (44-79)
  • PCSK9 protein, human
  • Proprotein Convertase 9
  • Proprotein Convertases
  • Serine Endopeptidases