Systematic family screening for familial hypercholesterolemia in Iceland
Cast your vote
You can rate an item by clicking the amount of stars they wish to award to this item.
When enough users have cast their vote on this item, the average rating will also be shown.
Your vote was cast
Thank you for your feedback
Thank you for your feedback
MetadataShow full item record
CitationArterioscler Thromb Vasc Biol. 2003, 23(2):335-8
AbstractOBJECTIVE: 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.
DescriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links field
- Diagnosis of familial hypercholesterolemia in general practice using clinical diagnostic criteria or genetic testing as part of cascade genetic screening.
- Authors: Leren TP, Finborud TH, Manshaus TE, Ose L, Berge KE
- Issue date: 2008
- Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations.
- Authors: Havndrup O, Bundgaard H, Andersen PS, Allan Larsen L, Vuust J, Kjeldsen K, Christiansen M
- Issue date: 2003 Feb
- Cost-effectiveness analysis of the genetic screening program for familial hypercholesterolemia in The Netherlands.
- Authors: Wonderling D, Umans-Eckenhausen MA, Marks D, Defesche JC, Kastelein JJ, Thorogood M
- Issue date: 2004 Feb
- No certain predictors for mutation status in a Danish cohort with familial hypercholesterolemia: a descriptive study.
- Authors: Nybo M, Brusgaard K, Hansen AB
- Issue date: 2007 Dec
- Use of the denaturing gradient gel electrophoresis (DGGE) method for mutational screening of patients with familial hypercholesterolaemia (FH) and Familial defective apolipoprotein B100 (FDB).
- Authors: Azian M, Hapizah MN, Khalid BA, Khalid Y, Rosli A, Jamal R
- Issue date: 2006 Jun