Genetic screening for FH

Familial hypercholesterolaemia (FH) is a common genetic disorder associated with potentially fatal premature cardiovascular disease. Early diagnosis can reduce this risk through preventative treatment. FH is, however, currently underdiagnosed and undertreated.

The current diagnosis of FH is based on repeated measurements of blood cholesterol. But in practice it is difficult to distinguish from hypercholesterolaemia because of familial dietary factors. In 20 January Lancet, researchers from the University of Amsterdam publish the results of a 5-year trial (Lancet 2001, 357:165–168), which show that DNA screening of people from families with FH is superior to cholesterol measurement alone — even though DNA screening raises ethical, psychological and social issues.

John Kastelein and colleagues set up a screening programme in the Netherlands in 1994 and compared the yield of DNA testing with blood cholesterol analysis. In 5442 relatives of people with FH, researchers found 2039 carriers of the specific gene mutation. About 18% ...