A Common Genetic Cause of Heart Disease in Children

Familial Hypercholesterolaemia (FH) is the most common genetic condition in Australia, but most people have never heard of it. It affects all nationalities, but it is more common in people from Asian or Indian backgrounds. It causes heart disease that begins in childhood and can cause heart attacks in young adults. Heart attacks can be devastating for families, with loved ones unexpectedly dying or suffering lifelong irreversible heart damage.

Over 70 000 Australians are affected by Familial Hypercholesterolaemia and most aren’t aware because it is hidden in their genes and is hard to diagnose. Some people have cholesterol build up in their skin which puts high cholesterol on their doctors radar, and they get tested for it, but half of all people with FH show no signs of the disease at all.

The cholesterol levels in people with FH are high at birth and require medication to be normal.  A low cholesterol diet is not enough to bring the levels down. The cholesterol levels in the blood are so high that cholesterol accumulates on the walls of the arteries of the heart causing a plaque that narrows the artery. The narrowing worsens slowly over time until there is a complete blockage and stops blood from reaching the heart, causing a heart attack. The damage from heart attack is permanent and can result in lifelong breathlessness and fatigue.

1200 babies in Australia will be born with FH this year and 14 800 Australian children under 14 are affected by it and most parents don’t know about it. Experts recommend looking for FH in children before they develop heart disease and starting treatment early in life, sometimes in children as young as 2.

The NextGen test by Genepath is the only painless test designed for screening children for FH and over 50 other conditions that are not on the radar of most parents or doctors. Finding FH before it has caused heart disease is important, after all prevention is better than cure.

Here is Kristen’s story about how her newborn was diagnosed with FH and how that allowed her to start preventive health for her and her family.

Kristen lived much of her adult life with high cholesterol. While her father had always had high cholesterol, and Kristen was diagnosed with high cholesterol...