Arfbundin kólesterólhækkun : yfirlit yfir stöðu þekkingar og árangur markvissrar leitar á Íslandi

Bolli Þórsson, Vilmundur Guðnason, Guðrún Þorvaldsdóttir, Gunnar Sigurðsson

Research output: Contribution to journalArticlepeer-review

Abstract

Familial hypercholesterolemia is a genetic disorder causing lifelong elevation of cholesterol and severely increased risk of coronary heart disease. Cholesterol lowering drug treatment is usually effective and clinical trials indicate a substantial lowering of risk, thanks to treatment. The diagnosis is based on cholesterol level in the individual and in his/her closest relatives or on a genetic test. The prevalence is estimated 1/500. In Iceland nearly half of the estimated number of individuals with familial hypercholesterolemia has been diagnosed (about 200). Three mutations have been identified that cause familial hypercholesterolemia in the Icelandic population and the most common one is estimated to cause 60% of the disease in Iceland. In this paper we give a short review of the literature on familial hypercholesterolemia especially regarding risk of coronary heart disease and describe the results of screening for the disease in Iceland. Also we present a new campaign to find undiagnosed individuals with the disease.
Original languageIcelandic
JournalLæknablaðið
Publication statusPublished - 1 Jun 2001

Other keywords

  • Kransæðasjúkdómar
  • Skimun
  • Ættgengi
  • Blóðfita
  • LBL12
  • Hypercholesterolemia
  • Mass Screening
  • Coronary Disease

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