Systematic detection of familial hypercholesterolaemia in primary health care: a community based prospective study of three methods

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Abstract

BACKGROUND: Familial hypercholesterolaemia (FH), a co-dominantly inherited disease of cholesterol that markedly increases risk of premature coronary artery disease (CAD), is significantly under-diagnosed. Primary health care is increasingly seen as a setting in which to increase the detection rate of index cases. We report a prospective study of three methods of case detection using pre-existing primary health care services in one community.

METHODS: Three methods of case detection were tested: pathology laboratory database search, workplace health checks and general practice database search. People identified at risk by each of the three screening methods were offered detailed assessment for FH using the Dutch Lipid Clinic Network Criteria score (DLCNCS).

RESULTS: 1316 participants underwent detailed assessment for FH. The proportion of at risk people identified for further assessment was in decreasing order: GP (659 of 2494, 26.4%), workplace assessment (60 of 268, 22.4%) and pathology database (597 of 4517, 13.2%) p<0.001. Eight-six (6.5%) were identified as clinical FH (DLCNCS>5) of which 59 had genetic testing and 11 of 59, 18.6%, were confirmed to have a mutation causing FH. Pathology database detected the greatest number of clinical FH (51 of 86, 59.3%) and mutation positive participants (8 of 11, 72.7%).

CONCLUSION: Screening within primary health care was successful in detecting participants with FH. An integrated case detection model combining screening of pathology and GP databases is proposed.

Original languageEnglish
Pages (from-to)250-256
Number of pages7
JournalHeart, Lung and Circulation
Volume24
Issue number3
DOIs
Publication statusPublished - Mar 2015

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Hyperlipoproteinemia Type II
Primary Health Care
Prospective Studies
Databases
Pathology
Workplace
Mutation
Genetic Testing
General Practice
Health Services
Coronary Artery Disease
Cholesterol
Lipids
Health

Cite this

@article{87ec330fd3ef404da4d53adf03a332d5,
title = "Systematic detection of familial hypercholesterolaemia in primary health care: a community based prospective study of three methods",
abstract = "BACKGROUND: Familial hypercholesterolaemia (FH), a co-dominantly inherited disease of cholesterol that markedly increases risk of premature coronary artery disease (CAD), is significantly under-diagnosed. Primary health care is increasingly seen as a setting in which to increase the detection rate of index cases. We report a prospective study of three methods of case detection using pre-existing primary health care services in one community.METHODS: Three methods of case detection were tested: pathology laboratory database search, workplace health checks and general practice database search. People identified at risk by each of the three screening methods were offered detailed assessment for FH using the Dutch Lipid Clinic Network Criteria score (DLCNCS).RESULTS: 1316 participants underwent detailed assessment for FH. The proportion of at risk people identified for further assessment was in decreasing order: GP (659 of 2494, 26.4{\%}), workplace assessment (60 of 268, 22.4{\%}) and pathology database (597 of 4517, 13.2{\%}) p<0.001. Eight-six (6.5{\%}) were identified as clinical FH (DLCNCS>5) of which 59 had genetic testing and 11 of 59, 18.6{\%}, were confirmed to have a mutation causing FH. Pathology database detected the greatest number of clinical FH (51 of 86, 59.3{\%}) and mutation positive participants (8 of 11, 72.7{\%}).CONCLUSION: Screening within primary health care was successful in detecting participants with FH. An integrated case detection model combining screening of pathology and GP databases is proposed.",
keywords = "Adult, Aged, Female, Humans, Hyperlipoproteinemia Type II, Male, Middle Aged, Primary Health Care, Prospective Studies, Clinical Trial, Phase I, Clinical Trial, Phase II, Clinical Trial, Phase III, Comparative Study, Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't",
author = "Andrew Kirke and Rita Barbour and Sally Burrows and Damon Bell and Alistair Vickery and Jon Emery and Gerald Watts",
note = "Copyright {\circledC} 2014 Australian and New Zealand Society of Cardiac and Thoracic Surgeons (ANZSCTS) and the Cardiac Society of Australia and New Zealand (CSANZ). Published by Elsevier B.V. All rights reserved.",
year = "2015",
month = "3",
doi = "10.1016/j.hlc.2014.09.011",
language = "English",
volume = "24",
pages = "250--256",
journal = "Heart, Lung & Circulation",
issn = "1444-2892",
publisher = "Academic Press",
number = "3",

}

TY - JOUR

T1 - Systematic detection of familial hypercholesterolaemia in primary health care

T2 - a community based prospective study of three methods

AU - Kirke, Andrew

AU - Barbour, Rita

AU - Burrows, Sally

AU - Bell, Damon

AU - Vickery, Alistair

AU - Emery, Jon

AU - Watts, Gerald

N1 - Copyright © 2014 Australian and New Zealand Society of Cardiac and Thoracic Surgeons (ANZSCTS) and the Cardiac Society of Australia and New Zealand (CSANZ). Published by Elsevier B.V. All rights reserved.

PY - 2015/3

Y1 - 2015/3

N2 - BACKGROUND: Familial hypercholesterolaemia (FH), a co-dominantly inherited disease of cholesterol that markedly increases risk of premature coronary artery disease (CAD), is significantly under-diagnosed. Primary health care is increasingly seen as a setting in which to increase the detection rate of index cases. We report a prospective study of three methods of case detection using pre-existing primary health care services in one community.METHODS: Three methods of case detection were tested: pathology laboratory database search, workplace health checks and general practice database search. People identified at risk by each of the three screening methods were offered detailed assessment for FH using the Dutch Lipid Clinic Network Criteria score (DLCNCS).RESULTS: 1316 participants underwent detailed assessment for FH. The proportion of at risk people identified for further assessment was in decreasing order: GP (659 of 2494, 26.4%), workplace assessment (60 of 268, 22.4%) and pathology database (597 of 4517, 13.2%) p<0.001. Eight-six (6.5%) were identified as clinical FH (DLCNCS>5) of which 59 had genetic testing and 11 of 59, 18.6%, were confirmed to have a mutation causing FH. Pathology database detected the greatest number of clinical FH (51 of 86, 59.3%) and mutation positive participants (8 of 11, 72.7%).CONCLUSION: Screening within primary health care was successful in detecting participants with FH. An integrated case detection model combining screening of pathology and GP databases is proposed.

AB - BACKGROUND: Familial hypercholesterolaemia (FH), a co-dominantly inherited disease of cholesterol that markedly increases risk of premature coronary artery disease (CAD), is significantly under-diagnosed. Primary health care is increasingly seen as a setting in which to increase the detection rate of index cases. We report a prospective study of three methods of case detection using pre-existing primary health care services in one community.METHODS: Three methods of case detection were tested: pathology laboratory database search, workplace health checks and general practice database search. People identified at risk by each of the three screening methods were offered detailed assessment for FH using the Dutch Lipid Clinic Network Criteria score (DLCNCS).RESULTS: 1316 participants underwent detailed assessment for FH. The proportion of at risk people identified for further assessment was in decreasing order: GP (659 of 2494, 26.4%), workplace assessment (60 of 268, 22.4%) and pathology database (597 of 4517, 13.2%) p<0.001. Eight-six (6.5%) were identified as clinical FH (DLCNCS>5) of which 59 had genetic testing and 11 of 59, 18.6%, were confirmed to have a mutation causing FH. Pathology database detected the greatest number of clinical FH (51 of 86, 59.3%) and mutation positive participants (8 of 11, 72.7%).CONCLUSION: Screening within primary health care was successful in detecting participants with FH. An integrated case detection model combining screening of pathology and GP databases is proposed.

KW - Adult

KW - Aged

KW - Female

KW - Humans

KW - Hyperlipoproteinemia Type II

KW - Male

KW - Middle Aged

KW - Primary Health Care

KW - Prospective Studies

KW - Clinical Trial, Phase I

KW - Clinical Trial, Phase II

KW - Clinical Trial, Phase III

KW - Comparative Study

KW - Journal Article

KW - Multicenter Study

KW - Research Support, Non-U.S. Gov't

U2 - 10.1016/j.hlc.2014.09.011

DO - 10.1016/j.hlc.2014.09.011

M3 - Article

VL - 24

SP - 250

EP - 256

JO - Heart, Lung & Circulation

JF - Heart, Lung & Circulation

SN - 1444-2892

IS - 3

ER -