High lipoprotein(a) may explain one quarter of clinical familial hypercholesterolemia diagnoses in Danish lipid clinics

Berit Storgaard Hedegaard*, Børge Grønne Nordestgaard, Helle Lynge Kanstrup, Kristian Korsgaard Thomsen, Jan Bech, Lia Evi Bang, Finn Lund Henriksen, Lars Juel Andersen, Thomas Gohr, Linnea Hornbech Larsen, Anne Merete Boas Soja, Frank-Peter Elpert, Tomas Joen Jakobsen, Anette Sjøl, Albert Marni Joensen, Ib Christian Klausen, Erik Berg Schmidt, Christian Sørensen Bork

*Corresponding author af dette arbejde

Abstract

CONTEXT: Cholesterol carried in lipoprotein(a) adds to measured low-density lipoprotein cholesterol (LDL-C) and may therefore drive some diagnoses of clinical familial hypercholesterolemia (FH).

OBJECTIVE: We investigated plasma lipoprotein(a) in individuals referred to Danish lipid clinics and evaluated the effect of plasma lipoprotein(a) on a diagnosis of FH.

METHODS: Individuals referred to 15 Danish lipid clinics who were suspected of having FH according to nationwide referral criteria were recruited between September 1, 2020 and November 30, 2021. All individuals were classified according to the Dutch Lipid Clinical Network criteria for FH before and after LDL-C was adjusted for 30% cholesterol content in lipoprotein(a). We calculated the fraction of individuals fulfilling a clinical diagnosis of FH partly due to elevated lipoprotein(a).

RESULTS: We included a total of 1166 individuals for analysis, of whom 206 fulfilled a clinical diagnosis of FH. Median lipoprotein(a) was 15 mg/dL (29 nmol/L) in those referred and 28% had lipoprotein(a) greater than or equal to 50 mg/dL (105 nmol/L), while 2% had levels greater than or equal to 180 mg/dL (389 nmol/L). We found that in 27% (55/206) of those fulfilling a clinical diagnosis of FH, this was partly due to high lipoprotein(a).

CONCLUSION: Elevated lipoprotein(a) was common in individuals referred to Danish lipid clinics and in one-quarter of individuals who fulfilled a clinical diagnosis of FH, this was partly due to elevated lipoprotein(a). These findings support the notion that the LPA gene should be considered an important causative gene in patients with clinical FH and further support the importance of measuring lipoprotein(a) when diagnosing FH as well as for stratification of cardiovascular risk.

OriginalsprogEngelsk
TidsskriftThe Journal of clinical endocrinology and metabolism
Vol/bind109
Udgave nummer3
Sider (fra-til)659-667
Antal sider9
ISSN0021-972X
DOI
StatusUdgivet - 20 feb. 2024

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