High Lipoprotein(a) May Explain One-Quarter of Clinical Familial Hypercholesterolemia Diagnoses in Danish Lipid Clinics.

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.

Genetic testing increases the likelihood of a diagnosis of familial hypercholesterolaemia among people referred to lipid clinics: Danish national study.

BACKGROUND AND AIMS: It is unclear to what extent genetic testing improves the ability to diagnose familial hypercholesterolaemia (FH). We investigated the percentage with FH among individuals referred to Danish lipid clinics, and evaluated the impact of genetic testing for a diagnosis of FH. METHODS: From September 2020 through November 2021, all patients referred for possible FH to one of the 15 Danish lipid clinics were invited for study participation and >97% (n = 1488) accepted. The Dutch Lipid Clinical Network criteria were used to diagnose clinical FH. The decision of genetic testing for FH was based on local practice. RESULTS: A total of 1243 individuals were referred, of whom 25.9% were diagnosed with genetic and/or clinical FH. In individuals genetically tested (n = 705), 21.7% had probable or definite clinical FH before testing, a percentage that increased to 36.9% after genetic testing. In individuals with unlikely and possible FH before genetic testing, 24.4% and 19.0%, respectively, had a causative pathogenic variant. CONCLUSIONS: In a Danish nationwide study, genetic testing increased a diagnosis of FH from 22% to 37% in patients referred with hypercholesterolaemia suspected of having FH. Importantly, approximately 20% with unlikely or possible FH, who without genetic testing would not have been considered having FH (and family screening would not have been undertaken), had a pathogenic FH variant. We therefore recommend a more widespread use of genetic testing for evaluation of a possible FH diagnosis and potential cascade screening.

Medication reconciliation is a prerequisite for obtaining a valid medication review.

INTRODUCTION: The objective of this study was to compare medication reconciliation and medication review based on number, type and severity of discrepancies and drug-related problems (DRPs), denoted errors. MATERIAL AND METHODS: This was a retrospective study conducted at the Department of Cardiology, Hillerød Hospital. Medication reconciliation compared the prescriptions in patient records, an electronic medication system (EMS) and in discharge summaries (DS). The medication review was based on the EMS. The two methods were performed on the same data material. To assess the clinical importance of the errors, a four-point scale was applied. RESULTS: A total of 75 patient records were included. In all, 198 discrepancies were identified by medication reconciliation, 2.6 per patient. The most frequent discrepancies were omission of a drug in the DS and discrepancy between the drugs noted in the patient record and the EMS. 15% of the discrepancies were potentially serious or fatal, 62% were potentially significant and 23% were potentially non-significant. A total of 129 DRPs were identified by medication review, 1.7 per patient. The most frequent DRPs were sub therapeutic dosage, inappropriate dosage regimen and untreated medical condition. 35% of the DRPs were potentially serious or fatal, 29% were potentially significant and 36% were potentially non-significant. CONCLUSION: Medication reconciliation identified a higher number of errors than medication review, but the number of serious errors identified by medication review was higher than that identified by medication reconciliation. The two methods identified different types of errors and should be used concurrently to supplement each other. FUNDING: not relevant. TRIAL REGISTRATION: not relevant.