Extent of underdiagnosis of familial hypercholesterolaemia in routine practice: prospective registry study.

In heterozygous familial hypercholesterolaemia the cumulative risk of a fatal or non-fatal coronary event by the age of 60 without effective treatment is at least 50% in men and about 30% in women. 2 The prognosis has improved substantially with widespread use of statins for lipid lowering. The estimated occurrence of the condition is about 1 in 500. We aimed to determine the prevalence of diagnosed familial hypercholesterolaemia and to estimate the proportion of expected cases that are identified in routine clinical practice.