Detection of familial hypercholesterolaemia: a major treatment gap in preventative cardiology.

Familial hypercholesterolaemia (FH) is a common genetic disorder that untreated has an almost one hundredfold risk of coronary artery disease (CAD). In an audit of 334 patients with premature CAD admitted to a Department of Cardiology, only 60% of medical records had sufficient clinical information for identifying FH. Of those with sufficient information recorded, 54% of patients had possible to definite FH on recognised clinical criteria. Amongst those with FH, only 38% were on statin therapy and only 22% were treated to National Heart Foundation targets. Detection and treatment of FH represents a major gap in coronary prevention.