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.1 2 The prognosis has improved substantially with widespread use of statins for lipid lowering.3 The estimated occurrence of the condition is about 1 in 500.4 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. Diagnosed patients resident in Oxfordshire were identified from the Simon Broome register of familial hyperlipidaemia,4 the Oxford lipid clinic computerised diagnostic register, and general practice records. The Simon Broome register categorises familial hypercholesterolaemia as definite or possible. Definite familial hypercholesterolaemia is defined as total cholesterol concentration >7.5 mmol/l in adults or >6.7 …