PerMedFH proposes to create innovative solutions to support the implementation of Personalized Medicine for Familial Hypercholesterolaemia (FH), which can be further on integrated in a clinic protocol.

Familial Hypercholesterolaemia (FH) is a common genetic disorder (1:300) in which patients have severely elevated LDL cholesterol from birth onwards. Due to this cholesterol accumulation in arteries, FH patients with a pathogenic variant have a very high cardiovascular risk, with up to a 20 fold increase of risk for early onset myocardial infarction compared with general population between ages 20-40 years. There is a huge gap in the diagnosis due to the lack of evidence to classify the majority of FH variants that remain as variants of unknown significance, and this project aims to clarify this interpretation by performing functional studies. There are several drugs available to treat FH patients, however the phenotype of the patients greatly depends on the type of variant presented. In PerMedFH different drugs will be tested and the best treatment option according to the different types of variants will be revealed, so this way treatment can be optimized in a way that each patient will receive the right treatment. Finally, a model of care for personalized medicine will be developed and validated by a group of FH experts, to be used by all clinicians worldwide.

Thus, PerMedFH will allow the implementation of a personalized medicine protocol for FH patients.  Better understanding of FH pathophysiology will be achieved as well as improvements in FH patient management with clear health gains. Drug optimization for each patient will increase adherence to medication and can decrease side effects and drugs interaction.