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Bispebjerg Hospital - en del af Københavns Universitetshospital
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Screening for Potential Familial Hypercholesterolaemia in General Practice: an observational study on prevalence and management

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BACKGROUND: Familial hypercholesterolaemia (FH) is a common genetic disorder causing premature cardiovascular disease (CVD). The estimated prevalence of probable or definite FH is 1:200-250 individuals, according to the Dutch Lipid Clinic Network (DLCN) criteria for FH. In Denmark approximately 12% of cases are identified.

AIM: To provide knowledge of the prevalence and management of FH in general practice.

DESIGN & SETTING: A collaboration between six general practice clinics and the department of cardiology at Bispebjerg hospital in Denmark.

METHOD: A total of 9652 patient records were screened for hypercholesterolaemia. All patients with a low-density lipoprotein cholesterol (LDL-C) ≥5.0 mmol/l were included in the study population and their records were investigated in order to perform a diagnostic score according to the DLCN criteria.

RESULTS: It was found that 2382 individuals had a lipid measurement available, and 236 of those had an LDL-C ≥5.0 mmol/l. In total, 34 individuals were found to have probable or definite FH (DLCN score ≥5). Only three individuals had been diagnosed and treated with lipid-lowering therapy. Of 236 individuals with high LDL-C, only 25 individuals met their treatment target. By excluding patients with signs of secondary hypercholesterolaemia, a subgroup of 115 individuals with potential primary hypercholesterolaemia was established. Among those, 21 individuals were found to have probable or definite FH (1:114 individuals).

CONCLUSION: The study shows that there is a massive lack of recognition of FH in general practice. Despite a measured high LDL-C, the diagnosis is rarely made and only a few patients are treated accordingly. Of the patients undergoing treatment, only a few reached their treatment target.

OriginalsprogEngelsk
TidsskriftBJGP open
Vol/bind5
Udgave nummer2
Sider (fra-til)1-13
Antal sider13
ISSN2398-3795
DOI
StatusUdgivet - apr. 2021

Bibliografisk note

Copyright © 2020, The Authors.

ID: 61663877