Cholesterol, LDL, and what we learnt from PCSK9 mutations in familial hypercholesterolaemia

In families with inherited high cholesterol (familial hypercholesterolaemia), mutations in the PCSK9 gene have been identified which make this protein overactive. These are known as gain-of-function mutations — they increase PCSK9 activity and push LDL cholesterol to dangerous levels. For over 90% of people with raised LDL who do NOT have a mutation, there are alternative explanations outlined in a related article and for  readers that are curious about this PCSK9 take a look at my technical article linked to the VAT Trap book series on LDL Cholesterol. Read blog