| Summary: | While the NHS in England and Wales has made spectacular progress in improving the secondary prevention of cardiovascular disease, we now need to work harder to identify those who are at particularly high risk of myocardial infarction. This group includes those with familial hypercholesterolaemia who, because of their high risk of premature coronary heart disease, merit specific attention. The condition is seriously under-diagnosed so that perhaps only one in six patients is known to the NHS and, for those in whom the diagnosis is made, it is often made too late restricting the effect of the treatments available. Since this condition is genetically determined, families must become the focus of attention so that cascade testing can identify those individuals who will benefit from early treatment and the near-normal life expectancy that can result. The innovative use of DNA testing allied with cholesterol testing will help to ensure that children, young people and adults with this condition are identified and offered timely advice and treatment
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