BJGP Open. 2026 Jun 12:BJGPO.2025.0247. doi: 10.3399/BJGPO.2025.0247. Online ahead of print.
ABSTRACT
BACKGROUND: Familial hypercholesterolemia (FH) is a genetic disorder characterised by elevated low-density lipoprotein cholesterol (LDL-C) and increased risk of premature atherosclerotic cardiovascular disease. In Denmark, general practitioners (GPs) play a key role in identifying and referring patients with suspected FH, yet referral rates remain low.
AIM: To assess GPs' awareness of FH among patients with LDL-C values above guideline-based thresholds and examine how individual patient factors influence awareness.
DESIGN & SETTING: We conducted a retrospective audit of 304 patient records from 14 general practices in the Central Denmark Region.
METHOD: Audit inclusion criteria were LDL-C ≥5.0 mmol/L, or ≥4.0 mmol/L if aged <40 years, and a recorded consultation in primary care. Full-text medical records were reviewed, and systematic keyword searches identified documentation related to FH. Data was extracted using a structured audit form aligned with national guidelines, capturing demographics, LDL-C levels, treatments, and referral status.
RESULTS: The median age was 58 years (IQR 51-65) and 54.6% were females. Median first LDL-C above threshold was 5.3 mmol/L. FH awareness was documented in 29% of records, despite all patients having LDL-C values above guideline-based thresholds. Referral rates to lipid clinics were 18% overall, varying by clinic affiliation. FH awareness rates were higher among patients with higher LDL-C values and younger age at presentation. The first LDL-C value also influenced subsequent statin initiation.
CONCLUSION: GPs' awareness and referral rates for FH were low. FH awareness, LDL-C value, and age influenced management and referral rates, highlighting the need for improved support in identifying FH in primary care.
PMID:42285731 | DOI:10.3399/BJGPO.2025.0247