Prevalentie van familiaire hypercholesterolemie onder volwassenen in vier huisartsenpraktijken hoger dan werd aangenomen

To determine the prevalence of familial hypercholesterolaemia (FH). Patient record screening, questionnaire and if necessary, case finding. 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. 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). 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