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:

Series: Oxford Cardiology Library

Primary dyslipidaemias

Show Summary Details


• 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

Full text: subscription required

How to subscribe Recommend to my Librarian

Buy this work at Oxford University Press »

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.