- People with familial hypercholesterolemia (FH) are at greater risk of heart disease
- 1 in 250 people in the UK are believed to have FH
- Over 260,000 people in the UK may have FH, with fewer than 10% diagnosed
- 56,000 children in the UK may have FH but only 600 of these are known
Seconds after finishing a cross country run and telling her friend "Oh God, I think I am going to die", Rianna Wingett's heart stopped beating.
She collapsed on the school playing fields in November 2009. A post-mortum revealed one of the main arteries to her heart was so clogged with cholesterol that the gap left for the blood to flow through was no bigger than a pin prick. The condition that so tragically ended Rianna's life is Familial Hypercholesterolaemia (FH), a condition caused by a faulty gene which results in very high cholesterol levels from birth onwards.
Rianna's mother, Amanda, had been diagnosed with the same condition at the age of 18 and Rianna's grandmother also had very high cholesterol levels.
Only 15 months before Rianna died, new NICE guidance had been set in place to help ensure that tragedies like this cannot occur. Sadly the Wingett family were denied the essential cholesterol test that would have revealed that Rianna's cholesterol was very high, putting her at exceptionally high risk of early heart disease. One heart disease expert later estimated that Rianna's cholesterol level would have been as high as 20 mmol/l, 4 times the normal adult level.
The family were preparing to celebrate Rianna's 12th birthday when her dad, John, took a call from the school saying Rianna had collapsed. John phoned Amanda, who had been buying last minute birthday presents, they both headed to the hospital as fast as they could.
Despite all efforts, Rianna died. The post mortem revealed Rianna's heart had become enlarged because it had been working so hard to pump blood through blocked blood vessels, due to her inherited cholesterol problems.
- 1 in 250 people in the UK are estimated to have the heterozygous from of FH (HeFH) which is inherited from a single parent.
- To date less than 10% of people with FH are formally diagnosed.
- 1 in 250,000 people are estimated to have a more severe form of FH called Homozygous FH (HoFH) or compound heterozygous FH - where the child inherits a faulty gene from both parents.