Vnitr Lek 2000, 46(1):19-23

[Familial hypercholesterolemia: do we know how to diagnose it correctly?].

V Soska: Oddĕlení klinické biochemie FN U sv. Anny, Brno.

Familial hypercholesterolaemia is a serious inborn disease of lipoprotein metabolism with a high risk of early cardiovascular complications. The cause of the disease is a congenital defect of LDL receptors. In adults with familial hypercholesterolaemia practically always pharmacotherapy with hypolipaemic agents is indicated. The prerequisite for starting lifelong medication in primary prevention of ischaemic heart disease is a correct diagnosis of this disease. The latter involves in addition to clinical and genealogical examinations, above all correct interpretation of blood lipids in relation to age and the relationship of probands in the affected family. At present the diagnostic process is improved greatly by DNA analysis. The author mentions also exact clinical and laboratory criteria for classification of patients with familial hypercholesterolaemia into groups.