How registers could enhance knowledge and characterization of genetic dyslipidaemias: The experience of the LIPIGEN in Italy and of other networks for familial hypercholesterolemia

Abstract

Familial hypercholesterolemia (FH) is a common genetic disorder of lipid metabolism, still underdiagnosed and undertreated in the general population. Pathology registers could play a crucial role in the creation of a comprehensive and integrated global approach to cover all aspects of this disease. Systematic data collection of patients affected by FH has increased dramatically worldwide in the past few years. Moreover, results from registers already established for the longest time showed their potentialities in the implementation of the knowledge of FH, comparing country-specific approaches and providing real-world data about identification, management and treatment of FH individuals in the clinical practice. The potential fields of research through registers are related to the deepening of the genetic basis of disease, the study of genotype-phenotype correlation, the local adaption and implementation of diagnostic algorithms, the comparison of pharmacological approaches and treatment gaps in real-life clinical practice, the evaluation of specific subpopulations, and the identification of factors modifying cardiovascular disease risk. Registers could become also a valid resource for other rare dyslipidaemias, contributing towards the evidence-based enhancement in the worldwide care of uncommon diseases.

Keywords: Familial hypercholesterolemia; Genetic dyslipidaemias; Pathology registers.