Improving Familial Hypercholesterolemia Detection Through Implementation of Nurse-led Cascade Screening.

Abstract

Aims/Background Familial hypercholesterolemia (FH) is a genetic disorder that leads to premature cardiovascular disease. Early detection and treatment are crucial for reducing morbidity and mortality. This study describes the development and impact of a nurse-led cascade screening service in Northern Ireland (NI). Methods A retrospective cross-sectional analysis and audit of data from 2010 to present was conducted using patient databases, clinical notes, and electronic records. Results An estimated 6925 individuals in NI have FH, with 26.9% identified (1866/6925). The mean detection rate per proband was 3.2 cases. The average age of diagnosis was 46.7 years for probands and 36.1 years for the FH population as a whole (35.1 for males, 36.9 for females). Excluding children (<18 years), the adjusted mean age was 43.7 for males and 44.4 for females. The overall male-to-female ratio was 0.817 (824 males:1008 females). Six common mutations in the low-density lipoprotein receptor (LDLR) and apolipoprotein B (APOB) genes account for 40% of cases, and 16.7% were diagnosed before age 16. NI benefits from a favourable FH nurse-to-population ratio (1:380,000). Conclusion Nurse-led cascade screening has enabled NI to surpass the National Health Service (NHS) 'Long Term Plan' target of 25%, demonstrating sustained high detection rates, particularly among females and children. Ongoing funding is essential to further expand the service and support the continued development of the FH nurse role.