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Familial hypercholesterolaemia overview

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Familial hypercholesterolaemia

About

What is covered

This pathway covers the care and treatment of people with familial hypercholesterolaemia.
It does not cover other forms of hypercholesterolaemia that are not genetic (inherited) or that are due to other genetic conditions.
Familial hypercholesterolaemia is a genetic condition that causes a high cholesterol concentration in the blood. It is caused by mutations in genes of the pathway that clears LDL from the bloodstream (in most cases the LDL receptor). This is present from birth and may lead to early development of atherosclerosis and coronary heart disease. The disease is transmitted from generation to generation in a dominant pattern, such that siblings and children of a person with familial hypercholesterolaemia have a 50% risk of inheriting familial hypercholesterolaemia.
The prevalence of heterozygous familial hypercholesterolaemia in the UK population is estimated to be 1 in 500, which means that approximately 110,000 people are affected. Having this condition leads to a greater than 50% risk of coronary heart disease in men by the age of 50 years and at least 30% in women by the age of 60 years, if left untreated.
Homozygous familial hypercholesterolaemia is rare, with an incidence of approximately 1 case per 1 million. Symptoms appear in childhood, and are associated with early death from coronary heart disease.

Updates

Updates to this pathway

21 June 2016 The following were added to drug treatment in adults:
  • evolocumab for treating primary hypercholesterolaemia and mixed dyslipidaemia (NICE technology appraisal guidance TA394)
  • alirocumab for treating primary hypercholesterolaemia and mixed dyslipidaemia (NICE technology appraisal guidance TA393).
11 May 2015 Elucigene FH20 and LIPOchip for the diagnosis of familial hypercholesterolaemia (NICE diagnostics guidance 2) removed because guidance has been withdrawn.

Professional responsibilities

The recommendations in this pathway represent the view of NICE, arrived at after careful consideration of the evidence available. When exercising their judgement, professionals are expected to take these recommendations fully into account, alongside the individual needs, preferences and values of their patients or service users. Applying the recommendations in this pathway is at the discretion of health and care professionals and their individual patients or service users and does not override the responsibility of health and care professionals to make decisions appropriate to the circumstances of the individual, in consultation with them and/or their carer or guardian.
Commissioners and/or providers have a responsibility to enable the recommendations to be applied (and to provide funding required for technology appraisal guidance) when individual health and care professionals and their patients or service users wish to use them. They should do so in the context of local and national priorities for funding and developing services, and in light of their duties to have due regard to the need to eliminate unlawful discrimination, to advance equality of opportunity and to reduce health inequalities. Nothing in this pathway should be interpreted in a way that would be inconsistent with compliance with those duties.

Patient-centred care

People have the right to be involved in discussions and make informed decisions about their care, as described in your care.
Making decisions using NICE guidelines explains how we use words to show the strength (or certainty) of our recommendations, and has information about prescribing medicines (including off label use), professional guidelines, standards and laws (including on consent and mental capacity), and safeguarding.

Short Text

Everything NICE has said on the identification and management of familial hypercholesterolaemia in an interactive flowchart.

What is covered

This pathway covers the care and treatment of people with familial hypercholesterolaemia.
It does not cover other forms of hypercholesterolaemia that are not genetic (inherited) or that are due to other genetic conditions.
Familial hypercholesterolaemia is a genetic condition that causes a high cholesterol concentration in the blood. It is caused by mutations in genes of the pathway that clears LDL from the bloodstream (in most cases the LDL receptor). This is present from birth and may lead to early development of atherosclerosis and coronary heart disease. The disease is transmitted from generation to generation in a dominant pattern, such that siblings and children of a person with familial hypercholesterolaemia have a 50% risk of inheriting familial hypercholesterolaemia.
The prevalence of heterozygous familial hypercholesterolaemia in the UK population is estimated to be 1 in 500, which means that approximately 110,000 people are affected. Having this condition leads to a greater than 50% risk of coronary heart disease in men by the age of 50 years and at least 30% in women by the age of 60 years, if left untreated.
Homozygous familial hypercholesterolaemia is rare, with an incidence of approximately 1 case per 1 million. Symptoms appear in childhood, and are associated with early death from coronary heart disease.

Updates

Updates to this pathway

21 June 2016 The following were added to drug treatment in adults:
  • evolocumab for treating primary hypercholesterolaemia and mixed dyslipidaemia (NICE technology appraisal guidance TA394)
  • alirocumab for treating primary hypercholesterolaemia and mixed dyslipidaemia (NICE technology appraisal guidance TA393).
11 May 2015 Elucigene FH20 and LIPOchip for the diagnosis of familial hypercholesterolaemia (NICE diagnostics guidance 2) removed because guidance has been withdrawn.

Sources

NICE guidance and other sources used to create this pathway.
Familial hypercholesterolaemia (2013) NICE quality standard 41

Quality standards

Familial hypercholesterolaemia quality standard

These quality statements are taken from the familial hypercholesterolaemia quality standard. The quality standard defines clinical best practice for familial hypercholesterolaemia and should be read in full.

Quality statements

Diagnosis

This quality statement is taken from the familial hypercholesterolaemia quality standard. The quality standard defines clinical best practice for familial hypercholesterolaemia and should be read in full.

Quality statement

Adults with a baseline total cholesterol above 7.5 mmol/l are assessed for a clinical diagnosis of familial hypercholesterolaemia (FH).

Rationale

Most of the 120,000 people estimated to have FH are undiagnosed and untreated. Because untreated FH carries a very high risk of cardiovascular disease, it is important that every opportunity is taken to identify people with FH and offer them treatment. Considering a clinical diagnosis of FH in people with high cholesterol will result in greater identification of FH and support cascade testing of their relatives. This will lead to more treatment to reduce cholesterol levels and prevention of coronary events among people with FH.

Quality measure

Structure
Evidence of local arrangements to ensure that adults with a baseline total cholesterol above 7.5 mmol/l are assessed for a clinical diagnosis of FH.
Data source: Local data collection.
Process
Proportion of adults with a baseline total cholesterol above 7.5 mmol/l who are assessed for a clinical diagnosis of FH.
Numerator – The number of people in the denominator assessed for a clinical diagnosis of FH.
Denominator – The number of adults with a baseline total cholesterol above 7.5 mmol/l.
Data source: Local data collection.

What the quality statement means for service providers, general practitioners, and commissioners

Service providers ensure that systems are in place for adults with a baseline total cholesterol above 7.5 mmol/l to be assessed for a clinical diagnosis of FH.
General practitioners assess adults with a baseline total cholesterol above 7.5 mmol/l for a clinical diagnosis of FH.
Commissioners ensure that they commission services that identify and assess adults with a baseline total cholesterol above 7.5 mmol/l for a clinical diagnosis of FH.

What the quality statement means for patients, service users and carers

Adults with a total cholesterol above 7.5 mmol/l before treatment have an assessment for FH.

Source guidance

Definitions

FH relates to heterozygous FH only.
Adults are defined as aged 16 and older.
Baseline total cholesterol is the total cholesterol concentration before treatment.
Assessment for a clinical diagnosis of FH. NICE clinical guideline 71 recommends assessment for a clinical diagnosis of FH using all three criteria below:
  • exclusion of secondary causes of hypercholesterolaemia
  • 2 measurements of LDL-C concentration
  • assessment against Simon Broome criteria by recording family history of premature coronary heart disease and raised cholesterol and clinical signs of FH.

Specialist referral

This quality statement is taken from the familial hypercholesterolaemia quality standard. The quality standard defines clinical best practice for familial hypercholesterolaemia and should be read in full.

Quality statement

People with a clinical diagnosis of familial hypercholesterolaemia (FH) are referred for specialist assessment.

Rationale

Diagnosing and managing FH in an individual and their relatives can be complex, and is best achieved when there is access to specialist services. Specialist assessments, which include DNA testing, can confirm a diagnosis. Once an accurate diagnosis has been made, people with FH can receive appropriate treatment, and cascade testing can be started to identify affected family members.

Quality measure

Structure
a) Evidence of local arrangements to ensure that people with a clinical diagnosis of FH are referred for specialist assessment.
Data source: Local data collection.
b) Evidence of local arrangements to ensure that a protocol for referral for a specialist assessment is agreed between primary and secondary care.
Data source: Local data collection.
Process
Proportion of people with a clinical diagnosis of FH referred for specialist assessment.
Numerator – The number of people in the denominator referred for specialist assessment.
Denominator – The number of people with a clinical diagnosis of FH.
Data source: Local data collection.
Outcome
Ratio of observed to estimated numbers of people with FH, using an estimate based on the area's estimated prevalence of FH (based on 1 in 500) and population size.
Data source: Local data collection using a dedicated database.

What the quality statement means for service providers, general practitioners, and commissioners

Service providers ensure that systems are in place for people with a clinical diagnosis of FH to be referred for specialist assessment.
Healthcare practitioners refer people with a clinical diagnosis of FH for specialist assessment.
Commissioners ensure that they commission services that can offer specialist assessment for people with a clinical diagnosis of FH.

What the quality statement means for patients, service users and carers

People who are given a clinical diagnosis of FH because they have high cholesterol and family history or other signs are referred for specialist assessment.

Source guidance

  • Familial hypercholesterolaemia (NICE clinical guideline 71), recommendations 1.2.2 and 1.3.1.19 (key priorities for implementation).

Definitions

FH relates to heterozygous FH only.
Assessment for a clinical diagnosis of FH. NICE clinical guideline 71 recommends assessment for a clinical diagnosis of FH using all three criteria below:
  • exclusion of secondary causes of hypercholesterolaemia
  • 2 measurements of LDL-C concentration
  • assessment against Simon Broome criteria by recording family history of premature coronary heart disease and raised cholesterol and clinical signs of FH.
Clinical diagnosis is made in people who meet Simon Broome criteria of possible or definite FH.
Specialist assessment should include:
  • confirmation of the clinical diagnosis of FH made by GP or other healthcare professional
  • an offer of DNA testing to increase the certainty of the diagnosis
  • initiation of cascade testing if a diagnosis is confirmed.
A specialist assessment should be performed by a healthcare professional with expertise in FH who has access to the wider skills of a multidisciplinary team. This team should include a dietitian, cardiologist and paediatrician, and a clinical genetic specialist to take a family history and obtain informed consent for a DNA test. For children and young people, this should be a specialist with expertise in FH in children and young people.
Children refers to people younger than 10, young people refers to those aged 10 up to and including age 15, and adults refers to people aged 16 and older.

DNA testing

This quality statement is taken from the familial hypercholesterolaemia quality standard. The quality standard defines clinical best practice for familial hypercholesterolaemia and should be read in full.

Quality statement

People with a clinical diagnosis of familial hypercholesterolaemia (FH) are offered DNA testing as part of a specialist assessment.

Rationale

DNA testing is important because it increases the certainty of a diagnosis of FH and allows the identification of affected and unaffected relatives through cascade testing.

Quality measure

Structure
Evidence of local arrangements to ensure that people with a clinical diagnosis of FH are offered DNA testing as part of a specialist assessment.
Data source: Local data collection.
Process
a) Proportion of people with a clinical diagnosis of FH who receive DNA testing as part of a specialist assessment.
Numerator – The number of people in the denominator receiving DNA testing as part of a specialist assessment.
Denominator – The number of people with a clinical diagnosis of FH.
Data source: Local data collection using a dedicated database.
b) Proportion of people with a clinical diagnosis of FH receiving DNA testing as part of a specialist assessment who give informed consent for the test.
Numerator – The number of people in the denominator who give informed consent for the test.
Denominator – The number of people with a clinical diagnosis of FH receiving DNA testing as part of a specialist assessment.
Data source: Local data collection using a dedicated database.
Outcome
Patient satisfaction with process of informed consent.
Data source: Local data collection.

What the quality statement means for service providers, general practitioners, and commissioners

Service providers ensure that systems are in place for people with a clinical diagnosis of FH to be offered DNA testing as part of a specialist assessment.
Specialists with expertise in FH offer DNA testing to people with a clinical diagnosis of FH as part of a specialist assessment.
Commissioners ensure that they commission services that offer DNA testing to people with a clinical diagnosis of FH as part of a specialist assessment.

What the quality statement means for patients, service users and carers

People who are given a clinical diagnosis of FH because they have high cholesterol and family history or other signs are offered DNA testing as part of a specialist assessment.

Source guidance

  • Familial hypercholesterolaemia (NICE clinical guideline 71), recommendation 1.1.12.

Definitions

FH relates to heterozygous FH only.
Assessment for a clinical diagnosis of FH. NICE clinical guideline 71 recommends assessment for a clinical diagnosis of FH using all three criteria below:
  • exclusion of secondary causes of hypercholesterolaemia
  • 2 measurements of LDL-C concentration
  • assessment against Simon Broome criteria by recording family history of premature coronary heart disease and raised cholesterol and clinical signs of FH.
Clinical diagnosis is made in people who meet Simon Broome criteria of possible or definite FH. A clinical diagnosis of FH will usually be made by a GP or other non-specialist. This diagnosis will then be confirmed by a specialist with expertise in FH, who will also be able to offer or refer for DNA testing.
DNA testing should test for all gene mutations known to cause FH. DNA testing methods should meet the standards set out by the UK Genetic Testing Network. Informed consent should be given for DNA testing.

Diagnosis in children under 10 years

This quality statement is taken from the familial hypercholesterolaemia quality standard. The quality standard defines clinical best practice for familial hypercholesterolaemia and should be read in full.

Quality statement

Children at risk of familial hypercholesterolaemia (FH) are offered diagnostic tests by the age of 10 years.

Rationale

Children with FH begin to develop cardiovascular disease before clinical signs appear, with thickening of the carotid artery wall identifiable by the age of 10 years. Diagnosis by the age of 10 years allows lifestyle changes and tailored therapy if indicated, which will reduce long-term problems associated with high cholesterol and improve long-term health.

Quality measure

Structure
Evidence of local arrangements to ensure that children at risk of FH are offered diagnostic tests by the age of 10 years.
Data source: Local data collection.
Process
Proportion of children at risk of FH who receive a specified diagnostic test by the age of 10 years.
Numerator – The number of people in the denominator who had received a specified diagnostic test.
Denominator – The number of children aged 10 years at risk of FH.
Data source: Local data collection. Contained in NICE audit support (criterion 2) for Familial hypercholesterolaemia (NICE clinical guideline 71).
Outcome
Ratio of observed to estimated numbers of children at risk of FH, using an estimate based on the area's estimated prevalence of FH (based on 1 in 500) and population size.
Data source: Local data collection.

What the quality statement means for service providers, general practitioners, and commissioners

Service providers ensure that systems are in place for children at risk of FH to be offered diagnostic tests by the age of 10 years.
Specialists with expertise in FH in children and young people offer children at risk of FH diagnostic tests by the age of 10 years.
Commissioners ensure that they commission services that offer children at risk of FH diagnostic tests by the age of 10 years.

What the quality statement means for patients, service users and carers

Children at risk of FH because they have 1 parent with the condition are offered diagnostic tests by the age of 10 years.

Source guidance

  • Familial hypercholesterolaemia (NICE clinical guideline 71), recommendation 1.1.15 (key priority for implementation).

Definitions

FH relates to heterozygous FH only.
Children at risk of FH have 1 affected parent.
Specified diagnostic tests. NICE clinical guideline 71 recommends that children at risk of FH because of 1 affected parent receive either of the following diagnostic tests:
  • A DNA test if the family mutation is known.
  • LDL-C concentration measurement if the family mutation is not known. When excluding a diagnosis of FH a further LDL-C measurement should be repeated after puberty because LDL-C concentrations change during puberty.
Specialist with expertise in FH in children and young people is defined as a healthcare professional with expertise in FH in children and young people who has access to the wider skills of a multidisciplinary team. This team should include a dietitian, cardiologist and paediatrician, and a clinical genetic specialist to take a family history and obtain informed consent for a DNA test. All children and young people being investigated for a diagnosis of FH should be referred to a specialist with expertise in FH in children and young people in a child-focused setting.
Child-focused setting NICE clinical guideline 71 defines a child-focused setting as valuing the child's view and validating their voice in making decisions impacting their lives. A child-focused facility or space is one designed with the children's needs in mind.

Cascade testing

This quality statement is taken from the familial hypercholesterolaemia quality standard. The quality standard defines clinical best practice for familial hypercholesterolaemia and should be read in full.

Quality statement

Relatives of people with a confirmed diagnosis of monogenic familial hypercholesterolaemia (FH) are offered DNA testing through a nationwide, systematic cascade process.

Rationale

Most people in the UK with FH are undiagnosed. Cascade testing has been shown to be effective for identifying people with FH, especially when provided nationwide. Nationwide cascade testing ensures that all family members can access DNA testing wherever they live.

Quality measure

Structure
Evidence of local arrangements to ensure that relatives of people with a confirmed diagnosis of monogenic FH are offered DNA testing through a nationwide systematic cascade processes.
Data source: Local data collection.
Process
a) Proportion of untested first-degree relatives of people with a confirmed diagnosis of monogenic FH who are offered cascade testing.
Numerator – The number of people in the denominator offered cascade testing.
Denominator – The number of untested first-degree relatives of people with a confirmed diagnosis of monogenic FH.
Data source: Local data collection using a dedicated database.
b) Proportion of at risk, untested, second- and third-degree relatives of people with a confirmed diagnosis of monogenic FH who are offered cascade testing.
Numerator – The number of people in the denominator offered cascade testing.
Denominator – The number of at risk, untested second- and third-degree relatives of people with a confirmed diagnosis of monogenic FH.
Data source: Local data collection using a dedicated database.
c) Proportion of untested first-degree relatives of people with a confirmed diagnosis of monogenic FH who receive cascade testing.
Numerator – The number of people in the denominator receiving cascade testing.
Denominator – The number of untested first-degree relatives of people with a confirmed diagnosis of monogenic FH.
Data source: Local data collection using a dedicated database.
d) Proportion of at risk, untested, second- and third-degree relatives of people with a confirmed diagnosis of monogenic FH who receive cascade testing.
Numerator – The number of people in the denominator receiving cascade testing.
Denominator – The number of at risk, untested second- and third-degree relatives of people with a confirmed diagnosis of monogenic FH.
Data source: Local data collection using a dedicated database.
Outcome
Prevalence of FH.
Data source: Local data collection using a dedicated database.

What the quality statement means for service providers, general practitioners, and commissioners

Service providers ensure that systems are in place for relatives of people with a confirmed diagnosis of monogenic FH to be offered DNA testing through a nationwide, systematic cascade process.
Specialists with expertise in FH offer DNA testing to relatives of people with a confirmed diagnosis of monogenic FH through a nationwide, systematic cascade process.
Commissioners ensure that they commission services that offer DNA testing to relatives of people with a confirmed diagnosis of monogenic FH, through a nationwide, systematic cascade process.

What the quality statement means for patients, service users and carers

Relatives of people with a confirmed diagnosis of FH and a known DNA mutation are offered DNA testing themselves as part of a national scheme.

Source guidance

  • Familial hypercholesterolaemia (NICE clinical guideline 71), recommendations 1.2.4 (key priority for implementation), 1.2.1, 1.2.5 and 1.2.8 (key priority for implementation).

Definitions

FH relates to heterozygous FH only.
Monogenic FH is present when an autosomal dominant pattern of inheritance of elevated LDL-C levels is seen in the extended family of the proband (for example, on average 50% of first-degree relatives have elevated levels). In relatives, the age- and gender-specific diagnostic cut-offs in NICE clinical guideline 71 should be used because the Simon Broome diagnostic cut-offs are not appropriate for relatives. The diagnosis of monogenic FH can also be given when the index case carries a documented FH-causing mutation in the LDLR, APOB or PCSK9 genes.
Confirmed diagnosis of monogenic FH requires evidence from DNA testing of an FH-causing mutation in the LDLR, APOB or PCSK9 genes. Before cascade testing is initiated in relatives, a diagnosis of monogenic FH in the index person should be confirmed by a specialist with expertise in FH.
Relatives should include at least first- and second-degree biological relatives and third-degree biological relatives if possible, as defined in the NICE clinical guideline 71 glossary.
The systematic cascade process is outlined in NICE clinical guideline 71, which recommends that in families in which a mutation has been identified, the mutation (not the LDL-C concentration) should be used to identify affected relatives. NICE clinical guideline 71 recommends the use of a nationwide, family-based, follow-up system to enable comprehensive identification of people affected by FH.

Drug treatment in adults

This quality statement is taken from the familial hypercholesterolaemia quality standard. The quality standard defines clinical best practice for familial hypercholesterolaemia and should be read in full.

Quality statement

Adults with familial hypercholesterolaemia (FH) receive lipid-modifying drug treatment to reduce LDL-C concentration by more than 50% from baseline.

Rationale

Lipid-modifying drug treatment reduces LDL-C levels and prevents the development of cardiovascular disease. Studies indicate that treatment that lowers LDL-C levels by more than 50% from baseline offers greater benefit for plaque stabilisation than treatment that is less effective at reducing LDL-C.

Quality measure

Structure
Evidence of local arrangements to ensure that adults with FH receive lipid-modifying drug treatment to reduce LDL-C concentration by more than 50% from baseline.
Data source: Local data collection.
Process
Proportion of adults with FH who receive appropriate lipid-modifying drug treatment.
Numerator – The number of people in the denominator receiving appropriate lipid-modifying drug treatment.
Denominator – The number of adults with FH.
Data source: Local data collection.
Outcome
Number of adults with FH whose LDL-C concentration is reduced by more than 50% from baseline within 1 year.
Data source: Local data collection using a dedicated database.

What the quality statement means for service providers, general practitioners, and commissioners

Service providers ensure that systems are in place for adults with FH to receive lipid-modifying drug treatment to reduce LDL-C concentration by more than 50% from baseline.
Healthcare practitioners offer adults with FH lipid-modifying drug treatment to reduce LDL-C concentration by more than 50% from baseline.
Commissioners ensure that they commission services that offer adults with FH lipid-modifying drug treatment to reduce LDL-C concentration by more than 50% from baseline.

What the quality statement means for patients, service users and carers

Adults with FH are offered drugs to reduce the low-density cholesterol (bad cholesterol) in their blood to less than a half of the level before treatment.

Source guidance

Definitions

FH relates to heterozygous FH only.
Adults are defined as aged 16 and older.
Adults with FH should have their diagnosis made by a specialist with expertise in FH.
Baseline LDL-C is the concentration before treatment.
Lipid-modifying drug treatment should be given in accordance with the recommendations in NICE clinical guideline 71, a summary of which is given below:
  • to achieve the recommended reduction:
    • consider prescribing high-intensity statins
    • increase dose of statin to maximum licensed or tolerated dose
  • ezetimibe monotherapy is recommended if intolerant to statin therapy or there are contraindications to initial statin therapy
  • coadminister ezetimibe with initial statin therapy when serum total or LDL-C concentration is not appropriately controlled and a change from initial statin therapy to an alternative statin is being considered.
Treatment for FH is usually provided by either a specialist with expertise in FH or a GP through a shared care arrangement.

Equality and diversity considerations

The statement has been restricted to adults only because there is currently no evidence on which to base any specific target for lowering LDL-C in children and young people under 16 years. However, lipid-modifying drug treatment should be considered by the age of 10 years in line with NICE clinical guideline 71.
Women with FH should be advised that lipid-modifying drug treatment should not be taken if they are planning to conceive or during pregnancy because of the risk of fetal abnormality. Women should be advised that lipid-modifying drug treatment should be stopped 3 months before they attempt to conceive. Women with FH should be advised about the potential risks and benefits of re-starting lipid modifying drug treatment for the mother and breastfed infant. Resins are the only lipid-modifying drug treatment that should be considered during breastfeeding.

Drug treatment in children

This quality statement is taken from the familial hypercholesterolaemia quality standard. The quality standard defines clinical best practice for familial hypercholesterolaemia and should be read in full.

Quality statement

Children with familial hypercholesterolaemia (FH) are assessed for lipid-modifying drug treatment by a specialist with expertise in FH in a child-focused setting by the age of 10 years.

Rationale

Children with FH begin to develop cardiovascular disease before clinical signs appear, with thickening of the carotid artery wall identifiable by the age of 10 years. Once a child is diagnosed as having FH, it is important they should be assessed for lipid-modifying drug treatment as soon as possible. The assessment should include a discussion of the harms and benefits of different treatments. This allows children to start treatment as soon as it is appropriate and before significant atherosclerosis has developed.

Quality measure

Structure
Evidence of local arrangements to ensure that children with FH are assessed for lipid-modifying drug treatment by a specialist with expertise in FH in a child-focused setting by the age of 10 years.
Data source: Local data collection.
Process
Proportion of children with FH who are assessed for lipid-modifying drug treatment by a specialist with expertise in FH in a child-focused setting by the age of 10 years.
Numerator – The number of people in the denominator assessed for lipid-modifying drug treatment by a specialist with expertise in FH in a child-focused setting.
Denominator – The number of children with FH aged 10 years.
Data source: Local data collection.
Data source: Local data collection using a dedicated database.

What the quality statement means for service providers, general practitioners, and commissioners

Service providers ensure that systems are in place for children with FH to be assessed for lipid-modifying drug treatment by a specialist with expertise in FH in a child-focused setting by the age of 10 years.
Specialists with expertise in FH in children and young people assess children with FH for lipid-modifying drug treatment in a child-focused setting by the age of 10 years.
Commissioners ensure that they commission services in which specialists with expertise in FH assess children with FH for lipid-modifying drug treatment, in a child-focused setting, by the age of 10 years.

What the quality statement means for patients, service users and carers

Children with FH have an assessment for possible drug treatment to reduce the low-density cholesterol (bad cholesterol) in their blood by a specialist in a children's department, by the age of 10 years.

Source guidance

  • Familial hypercholesterolaemia (NICE clinical guideline 71), recommendation 1.3.1.20.

Definitions

FH relates to heterozygous FH only.
Specialist with expertise in FH in children and young people is defined as a healthcare professional with expertise in FH in children and young people who has access to the wider skills of a multidisciplinary team. This team should include a dietitian, cardiologist and paediatrician, and a clinical genetic specialist to take a family history and obtain informed consent for a DNA test.
Assessment for lipid-modifying drug treatment NICE clinical guideline 71 recommends that the decision to offer or defer lipid-modifying drug treatment for a child or young person should take into account their age, age at onset of coronary heart disease within the family and the presence of other cardiovascular risk factors, including their LDL-C concentration.
Child-focused setting NICE clinical guideline 71 defines a child-focused setting as valuing the child's view and validating their voice in making decisions impacting their lives. A child-focused facility or space is one designed with the children's needs in mind.

Equality and diversity considerations

Boys and girls should have equal access to lipid-modifying drug treatment for FH. There is anecdotal evidence that some clinicians are less likely to recommend statins in a girl than a boy at the same level of individual risk, arguing that because the age at onset of coronary heart disease in women is later than in men, the start of drug treatment can be 'safely' delayed until adulthood. However, many young women will need to stop statins for several years when they are trying to conceive, and during pregnancy and breastfeeding. Because the accumulation of LDL-C burden is similar in boys and girls, this will result in the exposure to high LDL-C being greater in early adulthood in young women than in their male siblings. Gender should not influence a clinician's decision to offer treatment; the decision should be made in accordance with the recommendations in NICE clinical guideline 71, which indicate that lipid lowering with statins should be considered by the age of 10 years.

Annual review

This quality statement is taken from the familial hypercholesterolaemia quality standard. The quality standard defines clinical best practice for familial hypercholesterolaemia and should be read in full.

Quality statement

People with familial hypercholesterolaemia (FH) are offered a structured review at least annually.

Rationale

Regular structured review enables treatment to be monitored and adjusted to achieve the recommended LDL-C concentration. It also enables monitoring for the possible development of symptoms and signs of coronary heart disease and optimising management. Records can be maintained of affected family members and information can be tailored to individual circumstances. Progress with cascade testing of at-risk relatives can be monitored.

Quality measure

Structure
Evidence of local arrangements to ensure that people with FH are offered a structured review at least annually.
Data source: Local data collection.
Process
Proportion of people with FH who receive a structured review at least annually.
Numerator – The number of people in the denominator who had a structured review within 12 months of the last review or diagnosis.
Denominator – The number of people with FH.
Data source: Local data collection using a dedicated database. Contained in NICE audit support (criterion 11) for Familial hypercholesterolaemia (NICE clinical guideline 71).

What the quality statement means for service providers, general practitioners, and commissioners

Service providers ensure that systems are in place for people with FH to be offered a structured review at least annually.
Healthcare practitioners offer people with FH a structured review at least annually.
Commissioners ensure that they commission services that offer a structured review at least annually to people with FH.

What the quality statement means for patients, service users and carers

People with FH are offered a detailed review of their condition at least once a year.

Source guidance

Definitions

FH relates to heterozygous FH only.
People with FH should have their diagnosis made by a specialist with expertise in FH.
Structured review should include all the following components if appropriate:
  • Recording progress of cascade testing among relatives.
  • Updating the family pedigree and noting changes in the coronary heart disease status of relatives.
  • Assessing any symptoms of coronary heart disease.
  • Assessing smoking status, and offering advice and information on smoking cessation services.
  • Measuring fasting lipid profile.
  • Discussing adherence to treatment, and possible side effects of treatment the person may be experiencing.
  • Discussing any changes in lifestyle or lipid-modifying drug treatment that may be needed to achieve the recommended LDL-C concentration.
  • Giving advice on contraception and pregnancy (to women and girls only).
  • Monitoring growth and pubertal development (in children and young people only).

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Professional responsibilities

The recommendations in this pathway represent the view of NICE, arrived at after careful consideration of the evidence available. When exercising their judgement, professionals are expected to take these recommendations fully into account, alongside the individual needs, preferences and values of their patients or service users. Applying the recommendations in this pathway is at the discretion of health and care professionals and their individual patients or service users and does not override the responsibility of health and care professionals to make decisions appropriate to the circumstances of the individual, in consultation with them and/or their carer or guardian.
Commissioners and/or providers have a responsibility to enable the recommendations to be applied (and to provide funding required for technology appraisal guidance) when individual health and care professionals and their patients or service users wish to use them. They should do so in the context of local and national priorities for funding and developing services, and in light of their duties to have due regard to the need to eliminate unlawful discrimination, to advance equality of opportunity and to reduce health inequalities. Nothing in this pathway should be interpreted in a way that would be inconsistent with compliance with those duties.

Patient-centred care

People have the right to be involved in discussions and make informed decisions about their care, as described in your care.
Making decisions using NICE guidelines explains how we use words to show the strength (or certainty) of our recommendations, and has information about prescribing medicines (including off label use), professional guidelines, standards and laws (including on consent and mental capacity), and safeguarding.

Supporting information

Simon Broome diagnostic criteria for index individualsMarks D, Thorogood M, Neil HA, Humphries SE (2003) A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia. Atherosclerosis 168: 1–14.

Diagnose a person with definite familial hypercholesterolaemia if they have:
or
  • DNA-based evidence of an LDL-receptor mutation, familial defective apo B-100, or a PCSK9 mutation.
Diagnose a person with possible familial hypercholesterolaemia if they have cholesterol concentrations as defined in the table below and at least 1 of the following.
  • Family history of myocardial infarction: aged younger than 50 years in second-degree relative or aged younger than 60 years in first-degree relative.
  • Family history of raised total cholesterol: greater than 7.5 mmol/l in adult first- or second-degree relative or greater than 6.7 mmol/l in child, brother or sister aged younger than 16 years.
Cholesterol levels to be used as diagnostic criteria for the index individual (levels either pre-treatment or highest on treatment)
Total cholesterol
Low-density lipoprotein cholesterol
>6.7 mmol/l
>4.0 mmol/l
Adult
>7.5 mmol/l
>4.9 mmol/l

Glossary

angiotensin-converting enzyme inhibitors
cardiovascular disease
a method for identifying people at risk of a genetic condition by a process of family tracing
electrocardiogram
a person's biological parent, sister, brother or child
people who have inherited a defective gene from only 1 parent
statins are classified as high intensity if they produce greater low-density lipoprotein cholesterol (LDL-C) reductions than simvastatin 40 mg (for example, simvastatin 80 mg and appropriate doses of atorvastatin and rosuvastatin)
People who have inherited a defective gene from both parents. This may be the same or a different defective gene and the term homozygous familial hypercholesterolaemia will be used to cover both conditions in this pathway.
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
the original patients who are the starting point for follow-up of other members of a family when investigating possible genetic factors that are responsible for the presenting condition
low-density lipoprotein
low-density lipoprotein cholesterol
a person's biological grandparent, grandchild, aunt, uncle, niece, nephew, half sister or half brother
a person's biological great grandparent, great grandchild, great aunt, great uncle, first cousin, grand niece or grand nephew
as soon as possible but within a maximum time frame of 14 days

Paths in this pathway

Pathway created: August 2013 Last updated: June 2016

© NICE 2016

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