Molecular mechanism linking a novel PCSK9 copy number variant to severe hypercholesterolemia

A 42 year-old male with premature atherosclerosis, severe dyslipidemia and resistance to treatment with high dose statin and a recommended dose of a PCSK9 inhibitor, was found to have a duplication of the PCSK9 gene. However, the clinical phenotype, which included a more than 15-fold elevation in circulating PCSK9, was unexpected given that he had one additional gene copy.
Source: Atherosclerosis - Category: Cardiology Authors: Source Type: research