2.50
Hdl Handle:
http://hdl.handle.net/2336/15732
Title:
Systematic family screening for familial hypercholesterolemia in Iceland
Authors:
Thorsson, Bolli; Sigurdsson, Gunnar; Gudnason, Vilmundur
Citation:
Arterioscler Thromb Vasc Biol. 2003, 23(2):335-8
Issue Date:
1-Feb-2003
Abstract:
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.
Description:
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field
Additional Links:
http://atvb.ahajournals.org/cgi/content/abstract/23/2/335

Full metadata record

DC FieldValue Language
dc.contributor.authorThorsson, Bolli-
dc.contributor.authorSigurdsson, Gunnar-
dc.contributor.authorGudnason, Vilmundur-
dc.date.accessioned2008-01-07T09:25:25Z-
dc.date.available2008-01-07T09:25:25Z-
dc.date.issued2003-02-01-
dc.date.submitted2007-01-07-
dc.identifier.citationArterioscler Thromb Vasc Biol. 2003, 23(2):335-8en
dc.identifier.issn1079-5642-
dc.identifier.pmid12588780-
dc.identifier.doi10.1161/01.ATV.0000051874.51341.8C-
dc.identifier.urihttp://hdl.handle.net/2336/15732-
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.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.en
dc.language.isoenen
dc.publisherLippincott Williams & Wilkinsen
dc.relation.urlhttp://atvb.ahajournals.org/cgi/content/abstract/23/2/335en
dc.subject.meshAdolescenten
dc.subject.meshAdulten
dc.subject.meshAgeden
dc.subject.meshAged, 80 and overen
dc.subject.meshChilden
dc.subject.meshChild, Preschoolen
dc.subject.meshCholesterolen
dc.subject.meshDNAen
dc.subject.meshDNA Mutational Analysisen
dc.subject.meshFemaleen
dc.subject.meshGenetic Screeningen
dc.subject.meshHyperlipoproteinemia Type IIen
dc.subject.meshIcelanden
dc.subject.meshInfanten
dc.subject.meshInfant, Newbornen
dc.subject.meshMaleen
dc.subject.meshMass Screeningen
dc.subject.meshMiddle Ageden
dc.subject.meshPedigreeen
dc.subject.meshSensitivity and Specificityen
dc.titleSystematic family screening for familial hypercholesterolemia in Icelanden
dc.typeArticleen
dc.identifier.eissn1524-4636-
dc.contributor.departmentIcelandic Heart Association Research Institute, Kopavogur, Iceland.en
dc.identifier.journalArteriosclerosis, thrombosis, and vascular biologyen
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