Quality statement 1: Diagnosis

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 measures

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

Familial hypercholesterolaemia: identification and management (NICE guideline CG71), recommendations 1.1.1, 1.1.2, 1.1.4, 1.1.5 and 1.1.9

Definitions of terms used in this quality statement

Familial hypercholesterolaemia (FH)

FH relates to heterozygous FH only.

Adults

People aged 16 and older.

Baseline total cholesterol

The total cholesterol concentration before treatment.

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.

Equality and diversity considerations

The statement has been restricted to adults because the criteria for assessment for a clinical diagnosis of FH are not appropriate for children and young people under 16 years.