Prevalence and management of familial hypercholesterolaemia in patients with chest pain admitted to hospital: a retrospective observational study

BMJ Open · 4 authors, 4 centres

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This retrospective observational study enrolled consecutive patients discharged with IHD diagnoses from cardiac care units at Bispebjerg and Frederiksberg University hospitals, Copenhagen, between 2012 and 2016. Among the 680 patients (24.3%) with premature IHD, 20.0% had potential FH and 3.1% probable or definite FH. No patients with probable or definite FH had been previously diagnosed. Among patients with prior IHD and suspected FH, none had achieved an LDL-C below 1.8 mmol/L.

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cohort

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cardiology

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ORIGINAL PAPER

PMC10884211

Prevalence and management of familial hypercholesterolaemia in patients with chest pain admitted to hospital: a retrospective observational study

BMJ Open

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ABSTRACT

Objectives Patients with familial hypercholesterolaemia (FH) are genetically burdened by a lifelong elevation of the low-density lipoprotein cholesterol (LDL-C) level, putting them at a very high risk of premature ischaemic heart disease (IHD). This study aims to assess the prevalence of FH among patients admitted for IHD and the preventive treatment status before admission. Design Observational, retrospective, register-based study. Setting Individuals discharged with a diagnosis of IHD were enrolled consecutively throughout 2012–2016 from the cardiac care units of two hospitals in Copenhagen. Participants 4223 individuals were discharged during the period. Inclusion criteria for further investigation were the availability of one measurement of LDL-C at the time of admission. In total, 2797 individuals were included for further investigation. There were no exclusion criteria. Primary and secondary outcome measures The primary objective has been to determine the prevalence of FH in the population. The secondary objective has been to determine the use of lipid-lowering therapy and to which extend the individuals reach their treatment goal. Results Among the 2797 consecutive patients evaluated, the prevalence of potential FH was 7.7% (1: 13) and 6.8% (1:15) had probably or definite FH. The prevalence of FH was age-dependent: Among the 680 patients (24.3%) with premature IHD (men <55 years/women <60 years), 136 patients (20.0%) had potential FH and 21 (3.1%) had probable/definite FH. None were diagnosed and almost none attained their treatment goal. Conclusions There is still a massive lack of recognition of FH in patients admitted to a cardiac care unit with a diagnosis of IHD. Despite a measured high LDL-C, the diagnosis was not made for any patients not even in patients who were admitted at an early age or had a previous cardiovascular event.

CITATION EXPORT

Stefan Mülverstedt, Eva Irene Bossano Prescott, Henrik Jørgensen et al.. Prevalence and management of familial hypercholesterolaemia in patients with chest pain admitted to hospital: a retrospective observational study. BMJ Open. (2024). https://doi.org/10.1136/bmjopen-2023-082075

AUTHORS

4 · 4 CENTRES

Stefan Mülverstedt, Eva Irene Bossano Prescott, Henrik Jørgensen, Merete Heitmann

1Cardiology, Bispebjerg Hospital, Copenhagen NV, Denmark
2Department of Cardiology, Bispebjerg University Hospital, Copenhagen, Denmark
3Clinical Biochemistry, Hvidovre Hospital, Hvidovre, Denmark
4Department of Cardiology, Bispebjerg Frederiksberg University Hospital, Copenhagen, Denmark