National Institute for Health and Clinical Excellence (NICE)
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New NICE guidelines are set to reduce premature deaths in people who have inherited high cholesterol

The National Institute for Health and Clinical Excellence (NICE) and the National Collaborating Centre for Primary Care have recently  published a guideline on the care and treatment of adults and children/young people with familial hypercholesterolaemia (FH), a type of high cholesterol that is caused by an inherited genetic mutation. The condition is estimated to effect 1 in 500 people – as common as type 1 (insulin dependent) diabetes - and the severely raised cholesterol levels, if undetected, often result in unnecessary illness and early death from coronary heart disease.

For the first time, the guideline recommends the use of cascade testing to identify those individuals who will benefit from early treatment and the near-normal life expectancy that can result. Where FH is suspected, healthcare professionals should ask about an individual’s family history, including the age at which any relatives developed heart disease and whether or not they smoked. The use of DNA testing and cholesterol testing will help to ensure that children, young people and adults with this condition are identified and offered timely advice and treatment.

It also recommends that doctors provide individuals with evidence-based information about a range of key issues such as treatments available, lifestyle advice and how the condition might affect other members of their family so they can make decisions that are right for them.
Key recommendations from the guideline include:

• A family history of premature coronary heart disease should always be assessed in a person being considered for a diagnosis of FH

• In children at risk of FH because of one affected parent, the following diagnostic tests should be carried out by the age of 10 years or at the earliest opportunity thereafter
A DNA test if the family mutation is known.
LDL-C concentration measurement if the family mutation is not known.

• Healthcare professionals should offer all people with FH a referral to a specialist with expertise in FH for confirmation of diagnosis and initiation of cascade testing

• Cascade testing using a combination of DNA testing and LDL-C concentration measurement is recommended to identify affected relatives of those index individuals with a clinical diagnosis of FH

• The use of a nationwide, family-based, follow up system is recommended to enable comprehensive identification of people affected by FH

• Healthcare professionals should consider prescribing a high-intensity statin to achieve a recommended reduction in LDL-C concentration of greater than 50% from baseline (that is, LDL-C concentration before treatment)

• Healthcare professionals should offer all children and young people diagnosed with, or being investigated for, a diagnosis of FH a referral to a specialist with expertise in FH in children and young people.

• When lipid-modifying drug therapy is first considered for women and girls, the risks for future pregnancy and the fetus while taking lipid-modifying drug therapy should be discussed.

• All people with FH should be offered a regular structured review that is carried out at least annually

Dr Gillian Leng, NICE Deputy Chief Executive, and Executive Lead for this guidance says: “Familial hypercholesterolaemia is a serious, often undiagnosed but relatively common condition which, if treated early, will not affect normal life expectancy for the majority of people with the condition. This guideline will improve healthcare professionals’ understanding of inherited high cholesterol and encourage them to actively ask people about their family history of cardiovascular disease so that all individuals with the condition are identified. By offering treatment as soon as possible, unnecessary and untimely deaths will be prevented.”

Dr Rubin Minhas, General Practitioner and Guideline Development Group chair says: “By pulling together the best available evidence and advances in technology with professional and patient expertise, this guideline provides the NHS with a pragmatic and effective blueprint for reducing tens of thousands of deaths from premature heart disease. Only a fraction of people with FH in the UK are identified and the majority of people will remain unaware of their condition and untreated, often with tragic consequences. At the moment, we know that without treatment 50% of men with untreated FH will suffer a heart attack by the age of 50, and 30% of women with untreated FH will suffer a heart attack by the age of 60. Once an individual is diagnosed with FH, the condition can be managed, usually with a statin, to help them reach normal life expectancy.”

Professor Andrew Neil, Professor of Clinical Epidemiology and Guideline Development Group member says: “These recommendations mean that patients throughout the country will benefit from a consistent and coherent approach to the management and treatment of their condition. For example, all individuals will be referred to a specialist with expertise in FH to receive a confirmation of their diagnosis and advice on appropriate treatment. By bringing together everything we know about the diagnosis and management of FH, healthcare professionals will be best placed to offer individuals and their families the highest standard of care that they deserve.”

Professor Steve Humphries, Professor of Cardiovascular Genetics and Guideline Development Group member says: “We know that 15,000 people in the UK have already been identified with FH, and we are now looking to identify further individuals with the condition so that they can be offered treatment. The good news is that when individuals are identified with FH, they can get the treatment they require and their family members can be offered a genetic or cholesterol test to see if they have inherited it. Whilst this guideline recommends individuals are offered a genetic test to confirm the diagnosis and help trace other family members, the decision on whether to go through with this test should be taken by the individual, based upon receiving the best available information from their doctor.”

Melanie Watson, FH Nurse Specialist and Guideline Development Group member says: “As a nurse, I know that this guideline will really benefit nurses and doctors involved in detecting and managing FH. Hopefully this guideline will create greater awareness for the condition in the healthcare profession and in members of the public so that more people will come forward to get a firm diagnosis and be confident that they have support in managing their condition.”

Philip Rowlands, Service User Representative and Guideline Development Group member says: “Early identification of FH means that individuals diagnosed with the condition can be prescribed the right medication and advised and empowered on how to make changes to their lifestyle. My father died after a heart attack at the age of 51, when I was 12. I was diagnosed with FH around 14 years ago and I know that by taking the medication, exercising regularly, eating and drinking sensibly, not smoking and attending annual check ups - my prognosis is excellent. I was given the chance to take control of my life, unlike my father. I would strongly encourage anyone with a family history of early death from a heart attack, or heart disease, to have their cholesterol levels tested. This would significantly lower the risk of serious illness or death from heart disease.”

Notes to Editors

1. The guidance is available at

2. Cholesterol: a type of fat made by the body. Sometimes a high level of cholesterol in the blood, also known as ‘hypercholesterolaemia’ runs in families. Some families have a particular type of inherited high cholesterol caused by raised blood levels of ‘low density’ cholesterol, often known as ‘bad cholesterol’. This is called familial hypercholesterolaemia


3. Index individual: the original patient who is the starting point for follow-up of other members of a family when investigating possible genetic factors that are responsible for the presenting condition.
4. Cascade testing: used for identifying people at risk of a genetic condition by a process of family tracing. For FH the test employed is measurement of (LDL) cholesterol in the blood, and/or a DNA test

5. LDL-C: low density lipoprotein cholesterol

6. Mutation: an identified change in the DNA sequence of a gene which is predicted to damage the normal function of the gene and so cause disease.

About NICE

1. The National Institute for Health and Clinical Excellence (NICE) is the independent organisation responsible for providing national guidance on the promotion of good health and the prevention and treatment of ill health.

2. NICE produces guidance in three areas of health:

public health – guidance on the promotion of good health and the prevention of ill health for those working in the NHS, local authorities and the wider public and voluntary sector
health technologies – guidance on the use of new and existing medicines, treatments and procedures within the NHS
clinical practice – guidance on the appropriate treatment and care of people with specific diseases and conditions within the NHS.

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