Rachel's familial hypercholesterolaemia

"Finding out I had an inherited heart condition may have saved my son's life"

"I believe my son, John, is alive today because I was tested for an inherited condition and found out I’d passed it on to him.




"A few years ago John was having health problems - high blood pressure and cholesterol and at times he was passing out.

"But because he was only in his late thirties and very fit - he was a horse trainer in Australia - doctors didn’t suspect it could be his heart.

"My dad had died aged 48 from a heart attack, and my younger sister had a heart attack at the same age. She was still seeing a cardiologist so I went along with her.

"Being a dairy farmer and knowing how genetics works, I asked if there could be something in the family. Could I have passed something on to John?

"The cardiologist referred me to a consultant, who checked my hands and eyes for signs of high cholesterol and sent me to be tested for familial hypercholesterolaemia, or FH.

"It came back positive. They also found out I had blocked coronary arteries and needed bypass surgery. I had a healthy diet and lifestyle so hearing that was mind blowing.

"My positive FH test result went out to John’s doctors in Australia. They investigated and found some of the arteries in his heart were near 100% blocked. He needed emergency bypass surgery and that probably saved his life.”

What is familial hypercholesterolaemia?

Familial hypercholesterolaemia, or FH, is a genetic condition that results in exceptionally high levels of cholesterol in your blood. FH is one of the most common inherited conditions that can give you high cholesterol from birth and, if left untreated, gives you a higher risk of getting heart disease at an early age.

Others with familial hypercholesterolaemia

Familial hypercholesterolaemia is one of the most common inherited heart conditions. Here are stories of others living with FH:

Suzanne's familial hypercholesterolaemia

Support life saving heart research

In 1997, BHF Professor Steve Humphries launched the first DNA diagnostic test service for familial hypercholesterolaemia. In 2010, we partnered with the Welsh Assembly to fund a pilot national FH screening programme in Wales. We're striving to encourage other UK nations to follow suit.

Your donations help us fund efforts such as the screening programme and the research that gets us there. Consider donating today to help us fight for every heartbeat.