TY - JOUR

T1 - Screening for Potential Familial Hypercholesterolaemia in General Practice

T2 - an Observational Study on Prevalence and Management

AU - Mülverstedt, Stefan

AU - Hildebrandt, Per Rossen

AU - Prescott, Eva

AU - Heitmann, Merete

N1 - Funding Information: The authors would like to thank their good colleagues in general practice: GPs Tina Koch, Hanne Hjortkjaer-Petersen, Camilla Brand, and Thomas Drivsholm at the practitioner clinic L?gehuset Noerre Farimagsgade 33, and GP Pernille Stage for their help in collecting data. Funding Information: This work was funded by Amgen Inc. (grant reference number: ISS 20159575). Publisher Copyright: Copyright © 2020, The Authors

PY - 2021/4

Y1 - 2021/4

N2 - 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.

AB - 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.

KW - cardiovascular diseases

KW - familial hypercholesterolaemia

KW - general practice

KW - lipid lowering therapy

KW - mass screening

U2 - 10.3399/bjgpopen20X101142

DO - 10.3399/bjgpopen20X101142

M3 - Journal article

C2 - 33199307

AN - SCOPUS:85106608995

VL - 5

SP - 1

EP - 13

JO - British Journal of General Practice Open

JF - British Journal of General Practice Open

SN - 2398-3795

IS - 2

ER -