Outcome of case finding among relatives of patients with known heterozygous familial hypercholesterolaemia.

ABSTRACT:

Objectives

To assess the feasibility of detecting new cases of heterozygous familial hypercholesterolaemia by using a nurse led genetic register.

Design

Case finding among relatives of patients with familial hypercholesterolaemia.

Setting

Two lipid clinics in central and south Manchester.

Subjects

259 (137 men and 122 women) probands and 285 first degree relatives.

Results

Of the 200 first degree relatives tested, 121 (60%) had inherited familial hypercholesterolaemia. The newly diagnosed patients were younger than the probands and were generally detected before they had clinically overt atherosclerosis. Concentrations of serum cholesterol were, respectively, 8.4 (1.7 SD) mmol/l and 8.1 (1.9 SD) mmol/l in affected men and women and 5.6 (1.0 SD) mmol/l an

SUBMITTER: Bhatnagar D 

PROVIDER: S-EPMC27551 | biostudies-literature | 2000 Dec

REPOSITORIES: biostudies-literature