[The practice guideline 'Diagnosis and treatment of familial hypercholesterolaemia' of the Dutch Health Care Insurance Board]

Abstract

Until 2010, the Dutch ministry of Health, Welfare and Sport will fund a nationwide project to identify the approximately 40,000 patients with familial hypercholesterolaemia (FH) in the Netherlands. The Health Care Insurance Board will coordinate the project and safeguard its quality, while the 'Stichting Opsporing Erfelijke Hypercholesterolemie' [Foundation for the Detection of Hereditary Hypercholesterolaemia], with its national network of genetic fieldworkers, will search systematically within families with assessed FH-mutations. The referral of the first suspected case of FH in a family for DNA diagnosis remains a task for GPs, internists and other clinical professionals; these will also be expected to take the responsibility for treatment. The list of diagnostic criteria of the 'Dutch Lipid Clinic Network' has recently been validated and is recommended as a decision-tool for initiating DNA diagnosis. After confirmation of the DNA diagnosis, the plasma level of LDL-cholesterol remains the main criterion for pharmacotherapy; treatment with hypocholesterolaemic agents is recommended at levels above 2.5 mmol/l.