When we hear that a famous figure or celebrity has died suddenly of a heart attack in middle age, we often blame an unhealthy weight, poor diet, not enough exercise, too much stress and/or not enough rest. However, when a heart attack occurs in people who are strong and appear healthy, what is there to blame?

Turns out that genes are the likely culprit….

The liver is the cholesterol control hub

Most of us may naively think that the genes responsible for cardiovascular disease risk must be highly expressed in the heart and blood vessels but, surprisingly, they’re not – in fact, they are highly expressed in the liver. This is because the liver is the hub that controls blood cholesterol levels, and cholesterol level is the ultimate determinant of how fast atherosclerosis develops and how early blood vessels can become blocked as we age…

How do genetic mutations cause high cholesterol?

A single mutation in the LDLR, APOB or PCSK9 gene can cause FH and extremely high cholesterol. FH is an autosomal dominant condition meaning that a person only needs to inherit a single copy of a pathogenic variant from either biological parent to have the condition. Every child and sibling of someone with FH has a 50% chance of inheriting the same FH pathogenic variant. Aunts, uncles, and cousins may have also inherited the pathogenic variant as it passed along the line of the family tree…

Why is genetic testing important for people with very high cholesterol and a family history of heart attack?

High cholesterol and coronary heart disease (CHD) can run in the family but are preventable. Early detection is a prerequisite for early initiation of cholesterol-lowering therapies, which can effectively reduce risk of atherosclerotic cardiovascular disease and mortality. Research has shown that FH patients who started lipid-lowering therapies as a child had a 11.8-fold lower risk of developing CHD compared to their parents who did not start similar therapies until adulthood…


Pin It on Pinterest