Undiagnosed FH: A Tragic Case in the UK

Doctors’ failures caused our daughter’s death

A schoolgirl was not given a simple blood test despite warning signs that she had dangerous cholesterol levels – and thousands more adults and children are at risk. Jane Feinmann reports .

John and Amanda Wingett at home. Their daughter Rianna (pictured) died at the age of 11 a year ago. Photo: DAVID ROSE
By Jane Feinmann 7:00AM GMT 29 Jan 2011 Rianna Wingett, was slim, fit and just 11 years old when she collapsed after completing a cross-country run at her school in Essex just over a year ago. Paramedics tried desperately to resuscitate the child as they rushed her to the A&E Department at Queen’s Hospital in Romford. She was pronounced dead in the early afternoon that same day in November. But the cause of her death would have remained a mystery forever if her parents had not insisted on further investigations. Rianna was found to have familial hypercholesterolemia (FH), an inherited condition which as its name implies, causes very high blood cholesterol. ‘The arteries to her heart were so blocked that the gap left for the blood to flow through was no bigger than a pinhole,’ says her father, John Wingett. Rianna’s death was an avoidable tragedy: had her doctors followed national guidance on screening for this relatively common condition, there is little doubt that she would be alive today. And according to a report published last week, up to 100,000 children and adults with FH are at risk of heart attack because the NHS is failing to screen them. Mr Wingett, 50, was near the school in Hornchurch, Essex when his daughter collapsed, arriving there to find two ambulances parked in the playing field. He recalls seeing needles and debris where she’d fallen. The paramedics had been injecting drugs, trying to revive her. ‘None of us could believe what had happened as Rianna was the fittest in the family,’ he says. The doctors told us she probably had an abnormal heart rhythm, one of the commonest causes of sudden death in young people’ Yet a post mortem, insisted upon by Mr Wingett, found that the cause of the Essex schoolgirl’s death was sky-high cholesterol levels. ‘It wasn’t just that the heart had stopped. The extra pressure caused by the run she did that morning had literally torn her heart apart. That was why nothing could be done for her.’ This information emerged almost by accident. The Wingetts had been in touch with a doctor doing research into unexplained sudden death in young people, who asked if she could carry out a post mortem on Rianna. ‘Our doctors were against it, saying it wasn’t worthwhile, but my wife and I insisted,’ says Mr Wingett. The post mortem revealed that Rianna had FH, a genetic condition that affects the way the liver produces cholesterol, the fatty substances essential for maintaining healthy tissues but which can also present a major risk to health. In most people, healthy eating or cholesterol-lowering medication can control high cholesterol as it develops slowly in middle age. But Rianna is one of an estimated 120,000 people in the UK with a genetic mutation that fast tracks the production of ‘bad’ cholesterol (known as low density lipoprotein or LDL), a process that can start in the womb. A diagnosis of FH requires a simple blood test, after which sufferers can be monitored and prescribed medication to keep their cholesterol levels under control. For those, like Rianna, with severe FH, doctors can also use a treatment called apheresis, a process similar to kidney dialysis enabling lipids to be regularly flushed out of the blood. Research even shows that people with FH who are identified and treated, live longer than people with normal health. The benefits of identifying people with FH are so compelling that the National Institute for Health and Clinical Excellence (NICE) issued new guidelines in August 2008 – 15 months before Rianna’s death – calling on GPs to refer anyone thought to be at risk of FH for a blood test which is sent to specialist units for genetic testing. Anyone with a cholesterol reading of over 7.5mmol (an ideal cholesterol level is below 5 mmol.) is deemed to be at risk of FH, as are first and second-degree relatives of anyone diagnosed with the condition, including siblings and children of an affected parent. Yet two years after the NICE guidelines were published, one in three English primary care trusts were still not testing the relatives of patients with FH, according to a survey published by the charity Heart UK, and less than half have set up specialist lipid clinics where DNA testing for FH can best be carried out. The Royal College of Physicians’ audit of 122 sites across the UK, published last week, also revealed a major lack of screening facilities, in particular for children. ‘We know that over 100,000 people in the UK carry this deadly genetic trait without realizing it’ says Dr Jonathan Morrell, a Hastings GP and founder member of the Primary Care Cardiovascular Society. ‘Scotland, Wales and Northern Ireland are now routinely ring-fencing funding for cholesterol testing, but strategic health authorities in England just don’t seem interested.’ Rianna was a victim of that lack of interest. For her mother, Amanda, 44, has known that she has FH since she was genetically tested at 18, when her mother, Rianna’s grandmother, was diagnosed with the condition. ‘My wife was on medication prescribed by her GP at the local practice, Mayland Health Centre in Hornchurch,’ explains Mr Wingett. ‘On several occasions, she asked the doctor about getting her children genetically tested but she was always told not to worry and that there was plenty of time for them to be tested when they were older.’ ‘Of course, I now wish that we’d insisted on the tests. But your natural instinct is to trust doctors to know what they are doing.’ Just a few months before Rianna’s death, Mrs Wingett took her daughter to the doctors to ask for advice about lumps on her knuckle. ‘We now know that this is a tell-tale sign of high cholesterol – and identifying it could have led to life-saving treatment,’ says Mr Wingett. ‘You’d have thought that this might have set off alarm bells for the GP, knowing that she was the daughter and granddaughter of FH sufferers but he was reassuring, calling it harmless fatty lumps.’ What concerns him, he says, is not only that doctors ignored NICE guidelines, but they continued to fail to take action after Rianna’s death. ‘There was no curiosity about why she died. Her two sisters, Sarah, 15 and Becky, 11, did not even have their cholesterol tested until we insisted. Thank goodness their levels were normal.’ A spokesperson for the practice Maylands Health Centre acknowledged that the case was a tragic one and said the surgery ‘has undertaken a review of the procedures in place when screening for FH, and we have revised our protocols to prevent a similar incident from happening again’. The local primary care trust, NHS Havering, insists that it does make GPs aware of changes to NHS guidance and ‘supports them in implementing this into their practice’. The Wingetts have decided against making a complaint. ‘What’s the point when we won’t get Rianna back?’ says John Wingett. But he wants to warn other parents to be less trusting that their doctors will do the right thing. ‘Had we insisted on getting Rianna tested for FH she would be alive today. If getting the message across keeps one f amily from having to face the grief that we’ve experienced, it will be worth it.’ Find out more about cholesterol testing at www.heartuk.org.uk or telephone 0845 450 5988.

Leave a Reply