This quality standard covers the identification and management of heterozygous familial hypercholesterolaemia (FH) in adults, young people and children. Homozygous FH has been excluded from this quality standard because it has a low incidence and people with homozygous FH need specialist care. Please see the NICE guideline on familial hypercholesterolaemia for recommendations on the diagnosis and treatment of homozygous FH. For more information see the scope of the quality standard.

Why this quality standard is needed

FH is an inherited condition caused by an alteration in a gene, which results in a high cholesterol concentration in the blood. Raised cholesterol concentrations are present from birth and lead to early development of atherosclerosis and coronary heart disease. The condition is transmitted from generation to generation in such a way that siblings and children of a person with FH have a 1 in 2 chance (50:50 risk) of also having FH.

Most people with FH have inherited an altered gene for FH in an autosomal dominant pattern from only 1 parent and are therefore 'heterozygous'. Occasionally, a person will inherit an altered gene from both parents and will have 'homozygous' FH or 'compound heterozygous' FH. Homozygous FH is rare, with an incidence of approximately one in a million.

The prevalence of heterozygous FH in the UK population is estimated to be 1 in 500, which means that approximately 120,000 people are expected to be affected[1]. However, more than 80% of these are currently undiagnosed and untreated. If left untreated, more than 50% of men with heterozygous FH will develop coronary heart disease by the age of 50 years and more than 50% of women by the age of 60 years[2]. Life expectancy is restored to near normal with early preventive treatment, particularly statin treatment and smoking cessation.

The importance of better identification of families/individuals at very high risk of cardiovascular disease, including those with FH, is recognised in the Department of Health's Cardiovascular Disease Outcomes Strategy.

How this quality standard supports delivery of outcome frameworks

NICE quality standards are a concise set of prioritised statements designed to drive measureable quality improvements within a particular area of health or care. They are derived from high‑quality guidance, such as that from NICE or other sources accredited by NICE. This quality standard, in conjunction with the guidance on which it is based, should contribute to the improvements outlined in the following outcomes framework published by the Department of Health:

Table 1 shows the outcomes, overarching indicators and improvement areas from the framework that the quality standard could contribute to achieving.

Table 1 NHS Outcomes Framework 2013/14


Overarching indicators and improvement areas

1 Preventing people from dying prematurely

Overarching indicator

1a Potential years of life lost (PYLL) from causes considered amenable to healthcare

i Adults ii Children and young people

1b Life expectancy at 75

i Males ii Females

2 Enhancing quality of life for people with long‑term conditions

Overarching indicator

2 Health‑related quality of life for people with long‑term conditions*

Improvement areas

Ensuring people feel supported to manage their condition

2.1 Proportion of people feeling supported to manage their condition*

4 Ensuring people have a positive experience of care

Overarching indicator

4a Patient experience of primary care i) GP services

Improvement areas

Improving people's experience of outpatient care

4.1 Patient experience of outpatient care

Alignment across the health and social care system

*Indicator complementary with Adult Social Care Outcomes Framework (ASCOF).

Coordinated services

The quality standard for FH specifies that services should be commissioned from and coordinated across all relevant agencies encompassing the whole FH care pathway. A person‑centred, integrated approach to providing services is fundamental to delivering high‑quality care to people with FH.

The Health and Social Care Act 2012 sets out a clear expectation that the care system should consider NICE quality standards in planning and delivering services, as part of a general duty to secure continuous improvement in quality. Commissioners and providers of health and social care should refer to the library of NICE quality standards when designing high‑quality services. Other quality standards that should also be considered when choosing, commissioning or providing a high‑quality FH service are listed in related quality standards.

Training and competencies

The quality standard should be read in the context of national and local guidelines on training and competencies. All healthcare practitioners involved in assessing, caring for and treating people with FH should have sufficient and appropriate training and competencies to deliver the actions and interventions described in the quality standard.

[1] Seed M, Roughton M, Pedersen K et al. (2012) Current statin treatment, DNA testing and cascade testing of UK patients with familial hypercholesterolaemia. Primary Care Cardiovascular Journal 5: 181–5.

[2] Slack J (1969) Risks of ischaemic heart-disease in familial hyperlipoproteinaemia states. Lancet 2: 1380–2.