Familial hypercholesterolemia in the danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication

Marianne Benn; Gerald F Watts; Anne Tybjaerg-Hansen; Børge G Nordestgaard

doi:10.1210/jc.2012-1563

Familial hypercholesterolemia in the danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication

Marianne Benn, Gerald F Watts, Anne Tybjaerg-Hansen, Børge G Nordestgaard

409 Citations (Scopus)

Abstract

Context: The diagnosis of familial hypercholesterolemia (FH) can be made using the Dutch Lipid Clinic Network criteria. This employs the personal and family history of premature coronary artery disease and hypercholesterolemia and the presence of a pathogenic mutation in the low-density lipoprotein receptor (LDLR) and apolipoprotein B (APOB) genes. Objective: We employed this tool to investigate the prevalence of FH and the associations between FH and coronary artery disease and cholesterol-lowering medication in the Copenhagen General Population Study. Setting: The study was of an unselected, community-based population comprising 69,016 participants. Main Outcome Measures: FH (definite/probable) was defined as a Dutch Lipid Clinic Network score higher than 5. Coronary artery disease was myocardial infarction or angina pectoris. Results: The prevalence of FH was 0.73% (one in 137). Of participants with FH, 20% had an LDLR or APOB mutation. The prevalence of coronary artery disease among FH participants was 33%. Only 48% of subjects with FH admitted to taking cholesterol-lowering medication. The odds ratio for coronary artery disease off cholesterol-lowering medication was 13.2 (10.0-17.4) in definite/probable FH compared with non-FH subjects, after adjusting for age, gender, body mass index, hypertension, metabolic syndrome and diabetes, and smoking. The corresponding adjusted odds ratio for coronary artery disease in FH subjects on cholesterol-lowering medication was 10.3 (7.8-13.8). Conclusion: The prevalence of FH appears to be higher than commonly perceived in a general population of white Danish individuals, with at least half of affected subjects not receiving cholesterol-lowering medication. The very high risk of coronary artery disease irrespective of use of medication reflects the extent of underdiagnosis and undertreatment of FH in the community and primary care.

Original language	English
Journal	Journal of Clinical Endocrinology and Metabolism
Volume	97
Issue number	11
Pages (from-to)	3956-64
Number of pages	9
ISSN	0021-972X
DOIs	https://doi.org/10.1210/jc.2012-1563
Publication status	Published - Nov 2012

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1210/jc.2012-1563

Cite this

Familial hypercholesterolemia in the danish general population : prevalence, coronary artery disease, and cholesterol-lowering medication. / Benn, Marianne; Watts, Gerald F; Tybjaerg-Hansen, Anne et al.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 97, No. 11, 11.2012, p. 3956-64.

Research output: Contribution to journal › Journal article › Research › peer-review

@article{6ce56d615c5f48d9b61f2b86dc73471f,

title = "Familial hypercholesterolemia in the danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication",

abstract = "Context: The diagnosis of familial hypercholesterolemia (FH) can be made using the Dutch Lipid Clinic Network criteria. This employs the personal and family history of premature coronary artery disease and hypercholesterolemia and the presence of a pathogenic mutation in the low-density lipoprotein receptor (LDLR) and apolipoprotein B (APOB) genes. Objective: We employed this tool to investigate the prevalence of FH and the associations between FH and coronary artery disease and cholesterol-lowering medication in the Copenhagen General Population Study. Setting: The study was of an unselected, community-based population comprising 69,016 participants. Main Outcome Measures: FH (definite/probable) was defined as a Dutch Lipid Clinic Network score higher than 5. Coronary artery disease was myocardial infarction or angina pectoris. Results: The prevalence of FH was 0.73% (one in 137). Of participants with FH, 20% had an LDLR or APOB mutation. The prevalence of coronary artery disease among FH participants was 33%. Only 48% of subjects with FH admitted to taking cholesterol-lowering medication. The odds ratio for coronary artery disease off cholesterol-lowering medication was 13.2 (10.0-17.4) in definite/probable FH compared with non-FH subjects, after adjusting for age, gender, body mass index, hypertension, metabolic syndrome and diabetes, and smoking. The corresponding adjusted odds ratio for coronary artery disease in FH subjects on cholesterol-lowering medication was 10.3 (7.8-13.8). Conclusion: The prevalence of FH appears to be higher than commonly perceived in a general population of white Danish individuals, with at least half of affected subjects not receiving cholesterol-lowering medication. The very high risk of coronary artery disease irrespective of use of medication reflects the extent of underdiagnosis and undertreatment of FH in the community and primary care.",

author = "Marianne Benn and Watts, {Gerald F} and Anne Tybjaerg-Hansen and Nordestgaard, {B{\o}rge G}",

year = "2012",

month = nov,

doi = "10.1210/jc.2012-1563",

language = "English",

volume = "97",

pages = "3956--64",

journal = "Journal of Clinical Endocrinology and Metabolism",

issn = "0021-972X",

publisher = "Oxford University Press",

number = "11",

}

TY - JOUR

T1 - Familial hypercholesterolemia in the danish general population

T2 - prevalence, coronary artery disease, and cholesterol-lowering medication

AU - Benn, Marianne

AU - Watts, Gerald F

AU - Tybjaerg-Hansen, Anne

AU - Nordestgaard, Børge G

PY - 2012/11

Y1 - 2012/11

N2 - Context: The diagnosis of familial hypercholesterolemia (FH) can be made using the Dutch Lipid Clinic Network criteria. This employs the personal and family history of premature coronary artery disease and hypercholesterolemia and the presence of a pathogenic mutation in the low-density lipoprotein receptor (LDLR) and apolipoprotein B (APOB) genes. Objective: We employed this tool to investigate the prevalence of FH and the associations between FH and coronary artery disease and cholesterol-lowering medication in the Copenhagen General Population Study. Setting: The study was of an unselected, community-based population comprising 69,016 participants. Main Outcome Measures: FH (definite/probable) was defined as a Dutch Lipid Clinic Network score higher than 5. Coronary artery disease was myocardial infarction or angina pectoris. Results: The prevalence of FH was 0.73% (one in 137). Of participants with FH, 20% had an LDLR or APOB mutation. The prevalence of coronary artery disease among FH participants was 33%. Only 48% of subjects with FH admitted to taking cholesterol-lowering medication. The odds ratio for coronary artery disease off cholesterol-lowering medication was 13.2 (10.0-17.4) in definite/probable FH compared with non-FH subjects, after adjusting for age, gender, body mass index, hypertension, metabolic syndrome and diabetes, and smoking. The corresponding adjusted odds ratio for coronary artery disease in FH subjects on cholesterol-lowering medication was 10.3 (7.8-13.8). Conclusion: The prevalence of FH appears to be higher than commonly perceived in a general population of white Danish individuals, with at least half of affected subjects not receiving cholesterol-lowering medication. The very high risk of coronary artery disease irrespective of use of medication reflects the extent of underdiagnosis and undertreatment of FH in the community and primary care.

AB - Context: The diagnosis of familial hypercholesterolemia (FH) can be made using the Dutch Lipid Clinic Network criteria. This employs the personal and family history of premature coronary artery disease and hypercholesterolemia and the presence of a pathogenic mutation in the low-density lipoprotein receptor (LDLR) and apolipoprotein B (APOB) genes. Objective: We employed this tool to investigate the prevalence of FH and the associations between FH and coronary artery disease and cholesterol-lowering medication in the Copenhagen General Population Study. Setting: The study was of an unselected, community-based population comprising 69,016 participants. Main Outcome Measures: FH (definite/probable) was defined as a Dutch Lipid Clinic Network score higher than 5. Coronary artery disease was myocardial infarction or angina pectoris. Results: The prevalence of FH was 0.73% (one in 137). Of participants with FH, 20% had an LDLR or APOB mutation. The prevalence of coronary artery disease among FH participants was 33%. Only 48% of subjects with FH admitted to taking cholesterol-lowering medication. The odds ratio for coronary artery disease off cholesterol-lowering medication was 13.2 (10.0-17.4) in definite/probable FH compared with non-FH subjects, after adjusting for age, gender, body mass index, hypertension, metabolic syndrome and diabetes, and smoking. The corresponding adjusted odds ratio for coronary artery disease in FH subjects on cholesterol-lowering medication was 10.3 (7.8-13.8). Conclusion: The prevalence of FH appears to be higher than commonly perceived in a general population of white Danish individuals, with at least half of affected subjects not receiving cholesterol-lowering medication. The very high risk of coronary artery disease irrespective of use of medication reflects the extent of underdiagnosis and undertreatment of FH in the community and primary care.

U2 - 10.1210/jc.2012-1563

DO - 10.1210/jc.2012-1563

M3 - Journal article

C2 - 22893714

SN - 0021-972X

VL - 97

SP - 3956

EP - 3964

JO - Journal of Clinical Endocrinology and Metabolism

JF - Journal of Clinical Endocrinology and Metabolism

IS - 11

ER -

Familial hypercholesterolemia in the danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication

Abstract

UN SDGs

Access to Document

Fingerprint

Cite this