Lipoprotein apheresis and new therapies for severe familial hypercholesterolemia in adults and children.

Abstract

Familial hypercholesterolemia (FH), the most common and severe monogenic form of hypercholesterolemia, is an autosomal co-dominant disease characterized by an increased plasma low density lipoprotein (LDL)-cholesterol concentration and premature coronary heart disease (CHD). The clinical phenotype depends on the gene involved and severity of mutation (or mutations) present. Patients with homozygous or compound heterozygous FH have severe hypercholesterolemia (LDL-cholesterol >13 mmol/L) due to a gene dosing effect and without treatment have accelerated atherosclerotic CHD from birth, and frequently die of CHD before age 30. Cholesterol-lowering therapies have been shown to reduce both mortality and major adverse cardiovascular events in individuals with FH. Lipoprotein apheresis concomitant with lipid-lowering therapy is the treatment of choice for homozygous FH. This article describes the rationale and role of lipoprotein apheresis in the treatment of severe FH and outlines the recent advances in new pharmacotherapies for this condition.

• Authors: Michael M Page, Damon A Bell, Amanda J Hooper, Gerald F Watts, John R Burnett
• Journal: Best practice & research. Clinical endocrinology & metabolism (Best Pract Res Clin Endocrinol Metab) Vol. 28 Issue 3 Pg. 387-403 (Jun 2014) ISSN: 1878-1594 [Electronic] Netherlands
• PMID: 24840266 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)
• Copyright: Crown Copyright © 2013. Published by Elsevier Ltd. All rights reserved.

Chemical References

• Lipoproteins

Topics

• Adult
• Blood Component Removal (adverse effects, methods)
• Child
• Contraindications
• Humans
• Hyperlipoproteinemia Type II (blood, diagnosis, epidemiology, therapy)
• Lipoproteins (blood, isolation & purification)
• Mass Screening
• Severity of Illness Index