Chapter

Primary dyslipidaemias

Anton F. H. Stalenhoef

in Hyperlipidaemia

Published on behalf of Oxford University Press

ISBN: 9780199543502
Published online October 2011 | e-ISBN: 9780199607204 | 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.  3543 words.  Illustrated.

Subjects: Cardiovascular Medicine

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