Quality statement 4: Diagnosis in children under 10 years

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 measures

The following measures can be used to assess the quality of care or service provision specified in the statement. They are examples of how the statement can be measured, and can be adapted and used flexibly.

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.

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 different audiences

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.

Specialist 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.

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: identification and management. NICE guideline CG71 (2008, updated 2019), recommendation 1.1.15

Definitions of terms used in this quality statement

Familial hypercholesterolaemia (FH)

FH relates to heterozygous FH only.

Children at risk of FH

Children (under 10 years) with 1 affected parent.

Diagnostic tests

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.

[Adapted from NICE's guideline on familial hypercholesterolaemia]

Specialist with expertise in FH in children and young people

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

A child‑focused setting is defined 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.

[Adapted from NICE's guideline on familial hypercholesterolaemia, terms used in this guideline]