Chapter

Primary dyslipidaemias

Anton F. H. Stalenhoef

in Hyperlipidaemia

Published on behalf of Oxford University Press

Published in print February 2012 | ISBN: 9780199543502
Published online October 2011 | e-ISBN: 9780191740084 | DOI: http://dx.doi.org/10.1093/med/9780199543502.003.0004

Series: Oxford Cardiology Library

Primary dyslipidaemias

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Primary hyperlipidaemias are autosomal dominant or recessive inherited disturbances in lipid metabolism, which become manifest either from early childhood or later in life.

Clinical manifestations are premature ischaemic vascular disease, xanthomatosis and other lipid depositions in the body, and acute pancreatitis.

The molecular defect is explained by mutations in genes, which encode proteins that play a major role in the formation, secretion, transport, or uptake of lipoproteins.

The most common forms of primary dyslipidaemias are multifactorial heterogeneous disorders with several genetic, metabolic, and environmental factors interacting and contributing to the clinical phenotype.

Family investigation is usually crucial for proper diagnosis and case finding of persons at risk for vascular disease.

Chapter.  3520 words.  Illustrated.

Subjects: Cardiovascular Medicine

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