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2014 ; 25
(3
): 161-8
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Hypobetalipoproteinemia and abetalipoproteinemia
#MMPMID24751931
Welty FK
Curr Opin Lipidol
2014[Jun]; 25
(3
): 161-8
PMID24751931
show ga
PURPOSE OF REVIEW: Several mutations in the apoB, proprotein convertase
subtilisin/kexin type 9 (PCSK9), and MTP genes result in low or absent levels of
apoB and LDL-cholesterol in plasma, which cause familial hypobetalipoproteinemia
and abetalipoproteinemia. Mutations in the ANGPTL3 gene cause familial combined
hypolipidemia. Clinical manifestations range from none to severe, debilitating,
and life-threatening disorders. This review summarizes recent genetic, metabolic,
and clinical findings and presents an update on management strategies. RECENT
FINDINGS: Cases of cirrhosis and hepatocellular carcinoma have now been
identified in heterozygous familial hypobetalipoproteinemia probably because of
decreased triglyceride transport capacity from the liver. ANGPTL3 mutations cause
low levels of LDL-cholesterol and low HDL-cholesterol in compound heterozygotes
and homozygous individuals, decrease reverse cholesterol transport, and lower
glucose levels. The effect on atherosclerosis is unknown; however, severe fatty
liver has been identified. Loss-of-function mutations in PCSK9 cause familial
hypobetalipoproteinemia, which appears to lower risk for coronary artery disease
and has no adverse sequelae. Phase III clinical trials are now underway examining
the effect of PCSK9 inhibitors on cardiovascular events in combination with
statin drugs. SUMMARY: Mutations causing low LDL-cholesterol and apoB have
provided insight into lipid metabolism, disease associations, and the basis for
drug development to lower LDL-cholesterol in disorders causing high levels of
cholesterol. Early diagnosis and treatment are necessary to prevent adverse
sequelae from familial hypobetalipoproteinemia and abetalipoproteinemia.
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