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

Area of Science:

• Cardiovascular Genetics
• Public Health Screening
• Genetic Epidemiology

Background:

• Familial hypercholesterolemia (FH) is an inherited condition causing premature cardiovascular disease.
• Early identification and intervention are critical for managing FH and preventing adverse outcomes.
• This study evaluates a dedicated nurse-led cascade screening program implemented in Northern Ireland.

Purpose of the Study:

• To assess the development and impact of a nurse-led cascade screening service for Familial Hypercholesterolemia (FH) in Northern Ireland.
• To analyze detection rates, age at diagnosis, and demographic characteristics of the identified FH population.
• To evaluate the service's contribution to meeting national screening targets.

Main Methods:

• Retrospective cross-sectional analysis and audit of patient data from 2010 to present.
• Utilized patient databases, clinical notes, and electronic health records for data extraction.
• Calculated detection rates, mean age of diagnosis, and male-to-female ratios.

Main Results:

• An estimated 6925 individuals in Northern Ireland have FH, with a 26.9% identification rate (1866 cases).
• The mean detection rate per proband was 3.2 cases, with diagnosis at an average age of 36.1 years.
• Six common mutations in LDLR and APOB genes identified in 40% of cases; 16.7% diagnosed before age 16.

Conclusions:

• The nurse-led cascade screening service in Northern Ireland has exceeded the NHS target of 25% for FH identification.
• Sustained high detection rates were observed, with notable success in identifying females and children.
• Continued funding is vital for service expansion and the ongoing development of specialized FH nursing roles.