Objective: To determine the prevalence of familial hypercholesterolaemia (FH).
Design: Patient record screening, questionnaire and if necessary, case finding.
Methods: Over the period mid-1990-mid-1992 (approximately 2.5 years) 8,800 adult individuals (age 18 years and over) in 4 general practices in Hoofddorp, the Netherlands, were screened for risk factors for coronary artery disease and invited for further analysis. Of the 3,289 selected and invited individuals 2,719 (83%) were investigated. Total cholesterol concentrations were investigated 3 times and if the mean value was above 8.0 mmol/l patients were referred to a lipid clinic to investigate the possible existence of FH.
Results: 114 patients were eligible for referral to a lipid clinic of whom 92 (81%) were indeed referred. Of these, 38 patients were diagnosed with FH: 23 men and 15 women, with a mean age of 47.7 years (range: 21-74).
Conclusion: The prevalence of FH in this investigated population was at least 1:232. This is more than 1:500, the estimated number of FH patients in the Dutch population.