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
- Universal screening for familial hypercholesterolemia in children: The Slovenian model and literature review.
- Authors: Groselj U, Kovac J, Sustar U, Mlinaric M, Fras Z, Podkrajsek KT, Battelino T
- Issue date: 2018 Oct
- Value of Measuring Lipoprotein(a) During Cascade Testing for Familial Hypercholesterolemia.
- Authors: Ellis KL, Pérez de Isla L, Alonso R, Fuentes F, Watts GF, Mata P
- Issue date: 2019 Mar 12
- Detecting familial hypercholesterolemia by serum lipid profile screening in a hospital setting: Clinical, genetic and atherosclerotic burden profile.
- Authors: Scicali R, Di Pino A, Platania R, Purrazzo G, Ferrara V, Giannone A, Urbano F, Filippello A, Rapisarda V, Farruggia E, Piro S, Rabuazzo AM, Purrello F
- Issue date: 2018 Jan
- Reverse cascade screening for familial hypercholesterolemia in high-risk Chinese families.
- Authors: Wu X, Pang J, Wang X, Peng J, Chen Y, Wang S, Watts GF, Lin J
- Issue date: 2017 Nov
- Probabilistic cost-effectiveness analysis of cascade screening for familial hypercholesterolaemia using alternative diagnostic and identification strategies.
- Authors: Nherera L, Marks D, Minhas R, Thorogood M, Humphries SE
- Issue date: 2011 Jul