Getting insurance after genetic screening on familial hypercholesterolaemia; the need to educate both insurers and the public to increase adherence to national guidelines in The Netherlands.
Heterozygous familial hypercholesterolaemia (FH) is a common autosomal dominant inherited metabolic disease with a prevalence of 1 in 500 in most Western countries. People with FH experience an increased risk for coronary artery disease (CAD) and excess mortality especially at a young age. Until recently the diagnosis of FH was based on clinical signs and symptoms alone. These included increased cholesterol concentrations, in particular of LDL-cholesterol, in combination with the presence of tendon xanthoma, corneal arcus, xanthelasmata and a history of early CAD. Frequently FH was diagnosed after a first cardiac event.
Marang-van de Mheen
P J
PJ
Department of Social Medicine, Academic Medical Centre, Amsterdam, The Netherlands. p.j.marang-van_de_mheen@lumc.nl
van Maarle
M C
MC
Stouthard
M E A
ME
D000328:Adult; D005260:Female; D005820:Genetic Testing / Q000331:legislation & jurisprudence*; D019983:Guideline Adherence; D006266:Health Education; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis / Q000235:genetics*; D007348:Insurance, Health / Q000331:legislation & jurisprudence*; D007352:Insurance, Life / Q000331:legislation & jurisprudence*; D008297:Male; D008875:Middle Aged; D009426:Netherlands; D010808:Physical Examination / Q000592:standards; D017410:Practice Guidelines as Topic