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

BMJ 2000; 321 doi: (Published 15 July 2000) Cite this as: BMJ 2000;321:148
  1. H A W Neil, honorary consultant physician (,
  2. T Hammond, research assistantb,
  3. R Huxley, research officerb,
  4. D R Matthews, consultant physiciana,
  5. S E Humphries, professor of cardiovascular geneticsc
  1. a Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Infirmary, Oxford OX2 6HE,
  2. b Division of Public Health and Primary Health Care, Institute of Health Sciences, University of Oxford, Oxford OX3 7LF,
  3. c Centre for Cardiovascular Genetics, Rayne Institute, Royal Free and University College London Medical School, London WC1E 6JJ
  • Accepted 21 June 2000

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.

Subjects, methods, and results

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 …

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