Systematic Family Screening for Familial Hypercholesterolemia in Iceland
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...
Published in: | Arteriosclerosis, Thrombosis, and Vascular Biology |
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Ovid Technologies (Wolters Kluwer Health)
2003
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Online Access: | http://dx.doi.org/10.1161/01.atv.0000051874.51341.8c https://www.ahajournals.org/doi/full/10.1161/01.ATV.0000051874.51341.8C |
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crovidcr:10.1161/01.atv.0000051874.51341.8c 2024-09-15T18:13:30+00:00 Systematic Family Screening for Familial Hypercholesterolemia in Iceland Thorsson, Bolli Sigurdsson, Gunnar Gudnason, Vilmundur 2003 http://dx.doi.org/10.1161/01.atv.0000051874.51341.8c https://www.ahajournals.org/doi/full/10.1161/01.ATV.0000051874.51341.8C en eng Ovid Technologies (Wolters Kluwer Health) Arteriosclerosis, Thrombosis, and Vascular Biology volume 23, issue 2, page 335-338 ISSN 1079-5642 1524-4636 journal-article 2003 crovidcr https://doi.org/10.1161/01.atv.0000051874.51341.8c 2024-08-27T04:12:13Z 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. Article in Journal/Newspaper Iceland Ovid Arteriosclerosis, Thrombosis, and Vascular Biology 23 2 335 338 |
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English |
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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. |
format |
Article in Journal/Newspaper |
author |
Thorsson, Bolli Sigurdsson, Gunnar Gudnason, Vilmundur |
spellingShingle |
Thorsson, Bolli Sigurdsson, Gunnar Gudnason, Vilmundur Systematic Family Screening for Familial Hypercholesterolemia in Iceland |
author_facet |
Thorsson, Bolli Sigurdsson, Gunnar Gudnason, Vilmundur |
author_sort |
Thorsson, Bolli |
title |
Systematic Family Screening for Familial Hypercholesterolemia in Iceland |
title_short |
Systematic Family Screening for Familial Hypercholesterolemia in Iceland |
title_full |
Systematic Family Screening for Familial Hypercholesterolemia in Iceland |
title_fullStr |
Systematic Family Screening for Familial Hypercholesterolemia in Iceland |
title_full_unstemmed |
Systematic Family Screening for Familial Hypercholesterolemia in Iceland |
title_sort |
systematic family screening for familial hypercholesterolemia in iceland |
publisher |
Ovid Technologies (Wolters Kluwer Health) |
publishDate |
2003 |
url |
http://dx.doi.org/10.1161/01.atv.0000051874.51341.8c https://www.ahajournals.org/doi/full/10.1161/01.ATV.0000051874.51341.8C |
genre |
Iceland |
genre_facet |
Iceland |
op_source |
Arteriosclerosis, Thrombosis, and Vascular Biology volume 23, issue 2, page 335-338 ISSN 1079-5642 1524-4636 |
op_doi |
https://doi.org/10.1161/01.atv.0000051874.51341.8c |
container_title |
Arteriosclerosis, Thrombosis, and Vascular Biology |
container_volume |
23 |
container_issue |
2 |
container_start_page |
335 |
op_container_end_page |
338 |
_version_ |
1810451267697246208 |