Genetics in HeFH and HoFH: the latest insights

Over the last 10 years, the availability of Next Generation Sequencing has improved access to an accurate and early diagnosis of Familial Hypercholesterolemia. NGS sometimes shows that the phenotypic boundaries between FH and polygenic hypercholesterolemia are not always obvious, and that modulation of the phenotype may occur due to gene-gene interactions. This fascinating tool has removed many omitted diagnoses due to exon deletions missed with the earliest sequencing methods. However, some challenging issues remain such as understanding the relevance of variants of unknown significance and optimizing the announcement of the diagnosis.

Chair: Prof. Phillipe Moulin

This webinar is part of EAS and FH Europe Foundation’s Joint FH Webinar series 2023: ”Let’s manage FH together”