Endocrine Abstracts

Background and aims: To assess the prevalence and variability of pathogenic or likely pathogenic autosomal dominant mutations (ADM) of Familial Hypercholesterolemia (FH) in a Finnish cohort of patients with premature coronary artery disease (CAD) and elevated LDL-C levels.Methods: Study population was enrolled from 162 patients diagnosed with premature CAD (men < 55 years and women < 60 years) and history of high LDL-C (≥ 5 mmol/l) levels, ...

Familial hypercholesterolemia (FH) remains underdiagnosed in general population. Screening programs in unselected individuals have shown modest results in identifying patients with FH. Incidence of FH is higher in young patients with coronary artery disease (CAD), especially when associated with high LDL-cholesterol levels. Targeted screening in this population could add value to FH-index patient identification. We have established an IT-based automated screening tool to enhan...