Systematic family screening for familial hypercholesterolemia in Iceland

Bolli Thorsson, Gunnar Sigurdsson, Vilmundur Gudnason*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

31 Citations (Scopus)


Objective - This study compares a novel approach using systematic family screening for patients in Iceland who have familial hypercholesterolemia (FH) with conventional proband screening and assesses the sensitivity and specificity of diagnosing FH by cholesterol measurements compared with mutational testing of family members. Methods and Results - Probands with the I4T+2C mutation were traced to common ancestors. A downtracing of each family lineage was performed back to the oldest living offspring (key individuals); these individuals were recruited for cholesterol measurement and mutation testing. The sensitivity and specificity of cholesterol measurements was assessed against mutational analysis. Eleven probands clustered into 4 families. There were 364 key individuals identified among their descendants. Eighty-four percent responded, and 11% were positive for the mutation. There were 78 offspring of the positive key individuals, and 40 of those were carriers. Compared with use of the conventional first-degree relative approach, an additional 19% of FH individuals, including key individuals and their descendants, were identified. As diagnostic criteria, cholesterol measurements in the families had 95% specificity and 94% sensitivity. Conclusions - Tracing FH probands to common ancestors and screening the oldest offspring in each family lineage adds considerably to the conventional method of FH screening (testing first-degree relatives). This may have relevance in other founder populations.

Original languageEnglish
Pages (from-to)335-338
Number of pages4
JournalArteriosclerosis, Thrombosis, and Vascular Biology
Issue number2
Publication statusPublished - 1 Feb 2003

Other keywords

  • Familial hypercholesterolemia
  • Family screening
  • Mutational analysis
  • Preventive medicine
  • Screening enrichment


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