Extent of underdiagnosis of familial hypercholesterolaemia in routine practice: prospective registry study
Families with a history of high cholesterol are being denied early treatment to reduce the risk of coronary events because they often remain undetected until middle age, according to a study in this week's BMJ.
Using specialist registers and general practice records, researchers in Oxfordshire compared the number of families identified as having a history of high cholesterol with the estimated frequency of the condition. They found that only about a quarter of the cases predicted were diagnosed routinely, and most remained undiagnosed until middle age. Lack of diagnosis was greatest among children and young adults: only two children under 10 years and 12 aged 10-19 years had been identified.
These findings have important implications for clinical practice as, in families with a history of high cholesterol, the risk of a coronary event by the age of 60 without effective treatment is at least 50% in men and about 30% in women. Underdiagnosis means patients are denied early treatment to reduce their risk of coronary events, say the authors. They suggest a number of strategies to tackle this problem, such as routine testing of patients with early onset coronary artery disease and family tracking and testing by specialist nurses. Systematic screening of all 16 year olds may be equally cost effective, they add.
Contacts:
H A W Neil, Honorary Consultant Physician, Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Infirmary, Oxford OX2 6HE Email: andrew.neil@dphpc.ox.ac.uk
D R Matthews, Consultant Physician, Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Infirmary, Oxford OX2 6HE