Quality statement 2: Specialist referral

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 measures

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, healthcare 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: identification and management (NICE guideline CG71), recommendations 1.2.2 and 1.3.1.17

Definitions of terms used in this quality statement

Familial hypercholesterolaemia (FH)

FH relates to heterozygous FH only.

Assessment for a clinical diagnosis of FH

NICE's guideline on familial hypercholesterolaemia recommends assessment for a clinical diagnosis of FH using all 3 criteria below:

  • exclusion of secondary causes of hypercholesterolaemia

  • 2 measurements of LDL‑C concentration

  • assessment against Simon Broome criteria or Dutch Lipid Clinic Network (DLCN) criteria to make a clinical diagnosis of FH in primary care settings.

Specialist assessment

This 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.