Diagnosing familial hypercholesterolaemia: the relevance of genetic testing.

Autor: van Aalst-Cohen, Emily S., Jansen, Angelique C.M., Tanck, Michael W.T., Defesche, Joep C., Trip, Mieke D., Lansberg, Peter J., Stalenhoef, Anton F.H., Kastelein, John J.P.
Zdroj: European Heart Journal; Sep2006, Vol. 27 Issue 18, p2240-2246, 7p
Abstrakt: Aims We assembled a cohort of patients with familial hypercholesterolaemia (FH) for both basic and clinical research. We used a set of established diagnostic criteria to define FH. Some put forward that a definite diagnosis of FH is made when a mutation in the LDL-receptor (LDLR) gene is identified. We therefore set out to determine in these patients whether patients with a DNA diagnosis would differ significantly from those diagnosed clinically. [ABSTRACT FROM PUBLISHER]
Databáze: Complementary Index