Implantation of a biochemical and genetic screening programme for family hypercholesterolaemia. Collaboration between the clinical laboratory and lipid units: Design of the ARIAN Project

Abstract

Introduction and objective: Familial hypercholesterolaemia (FH) is the most common genetic disorder associated with premature coronary artery disease due to the presence of LDL-C cholesterol increased from birth. It is underdiagnosed and undertreated. The primary objective of the ARIAN project was to determine the number of patients diagnosed with FH after implementing a new screening procedure from the laboratory.

Material and methods: This project was designed as a retrospective analysis by consulting the computer system. We selected from databases serum samples from patients ≥ 18 years with direct or calculated LDL-C>250mg/dL from 1 January 2017 to 31 December 2018. Once secondary causes had been ruled out, the requesting primary care physician was notified that their patient might have FH and to arrange a priority appointment in the lipid unit. All patients with a score of ≥ 6 points according to the Dutch Lipid Clinic Criteria were proposed for a genetic study RESULTS: By December 30th, 2020, 24 centres out of the initial 55 had submitted results. The number of patients analysed up to that point was 3,266,341, which represents 34% of the population served in those health areas (9,727,434).

Conclusions: The identification of new subjects with FH through this new strategy from the laboratory and their referral to lipid units should increase the number of patients treated in lipid units and initiate familial cascade screening.

Keywords: Biochemical; Bioquímica; Clinical laboratory; Familial hypercholesterolemia; Genetic; Genética; Hipercolesterolemia familiar; Laboratorio clínico; Programa de cribado; Screening program.