High specificity makes DNA screening the method of choice for diagnosis of familial hypercholesterolaemia
Date
2001
Authors
Journal Title
Journal ISSN
Volume Title
Publisher
Health & Medical Publishing Group
Abstract
The diagnosis of familial hypercholesterolaemia (PH) is based on clinical findings, a family history of premature
atherosclerosis and elevated plasma cholesterol levels.'
Identification of heterozygous PH is complicated by the fact that biochemical parameters may overlap between normal and affected individuals, especially in children! and most adult patients do not present with cholesterol deposits in the skin and tendons. The importance of a DNA test that can provide a simple yes/no answer has now been demonstrated clearly in the article by Vergotine and colleagues in this issue of the Journal.
Description
CITATION: Kotze, M. J. 2001. High specificity makes DNA screening the method of choice for diagnosis of familial hypercholesterolaemia. South African Medical Journal, 91(12):1042.
The original publication is available at http://www.samj.org.za
The original publication is available at http://www.samj.org.za
Keywords
Hypercholesterolaemia