Development and implementation of a digiphysical screening model with nationwide reach to diagnose familial...

Familial hypercholesterolemia (FH) is a hereditary dyslipidemia that confers a severely elevated risk for development of early atherosclerotic cardiovascular disease if left untreated. FH is underdiagnosed in most countries including Sweden.

To develop and evaluate the implementation of a digiphysical screening model to diagnose FH in the clinical routine.

A digiphysical screening model for FH, containing digital and physical related activities was developed and fully implemented in routine clinical care in the Stockholm region, Sweden 2022. The centerpiece of the model is a tailormade interactive web-based platform designed to facilitate communication and secure medical information exchange between its participants and the healthcare professionals. The screening model includes, (i) cascade screening of relatives to patients with a confirmed FH diagnosis and (ii) systematic selective screening of patients with established atherosclerotic coronary artery disease.

Until October 2023, 338 index patients were included in the cascade screening. They invited 954 relatives nationwide, 616 (64.6%) accepted participation, 346 (36.3%) were completely screened, and 141 (14.8%) have received a FH diagnosis (40.8% of all completely screened). Selective screening was performed in 2867 patients with coronary artery disease, 355 (12.4%) were identified with increased risk for FH and underwent a genetic test. Of these, 153 (3.8%) had a genetic test result and 52 (1.8%) were diagnosed with FH.

A digiphysical screening model with a nationwide reach to diagnose FH was successfully implemented in routine clinical care. The model has potential to facilitate FH screening and provide health economic benefits long term.