Outcome of case finding among relatives of patients with known heterozygous familial hypercholesterolaemia
Editorial: Screening for familial hypercholesterolaemia
A nurse-led genetic register, linking lipid clinics nationally, may be a more effective way of detecting new patients with a family history of high cholesterol than general population screening, suggests a study in this week's BMJ.
Two-hundred first degree relatives of known patients with a family history of high cholesterol were given cholesterol tests by nurses in two lipid clinics in Manchester. The screening yielded 121 newly detected patients with a family history of high cholesterol and most were diagnosed before evidence of coronary heart disease was apparent. Because 1 in 500 people in Europe and North America are affected by this condition, to detect a similar number by population screening over 60,000 tests would have been required. Furthermore, general screening would have failed to identify most of these patients because testing is restricted to those with other risk factors for coronary heart disease - such as high blood pressure and diabetes - which were uncommon in the newly diagnosed patients, explain the authors.
Given the high death rate associated with a first heart attack (around 30%) detecting new cases before evidence of coronary heart disease is apparent is one important benefit of this method, say the authors. Indeed, there are many potential advantages of detecting new patients with a family history of high cholesterol through established lipid clinics using the genetic register approach reported in this study, they conclude.
Contact:
Professor Paul Durrington, University of Manchester, Department of Medicine, Manchester Royal Infirmary, UK
Email: pdurrington@hq.cmht.nwest.nhs.uk