Ep 37 – Identifying and managing familial hypercholesterolaemia

Cardiovascular medicine

23 December 2021

In this episode, Dr Kevin Fernando considers the case of Juliana, a 43-year-old journalist who requests a cholesterol check because her father experienced a heart attack in his early 50s. She has no past medical history of note. Her lipid profile returns as follows: total cholesterol (TC), 7.5 mmol/L; HDL-cholesterol, 1.4 mmol/L; triglycerides, 2.2 mmol/L; LDL-cholesterol, 2.9 mmol/L. What should we do next, and what do current guidelines recommend regarding the detection and management of familial hypercholesterolaemia (FH)?

Key references discussed in the episode:

Key resources discussed in the episode:

Key take-home messages from this episode:

FH is diagnosed late.
Guideline-recommended LDL-cholesterol concentrations are infrequently achieved with single-drug therapy.
There is a disparity in care between men and women living with FH.
Earlier detection and greater use of combination therapies are required to reduce the global burden of FH.
FH is common, affecting up to 1 in 250 individuals in the UK.
If untreated, FH can lead to coronary heart disease in >50% of men by age 50 and at least 30% of women by age 60.
FH patients reach LDL-cholesterol threshold levels for chronic heart disease at an early age.
Many people with FH are asymptomatic; therefore, case-finding is pivotal because the condition is not identified by cardiovascular disease assessment tools such as QRISK®3-2018.
NICE suggests systematically searching primary care records for people with:
- TC >7.5 mmol/L in those <30 years
- TC >9 mmol/L in those ≥30 years
The FAMCAT2 tool from PRIMIS can help us do this in primary care.
Suspect FH in adults >16 years with:
- TC >7.5mmol/L and/or
- Personal history of premature coronary heart disease <60 years
- Family history of premature CHD <60 years in a first-degree relative
Secondary causes of hyperlipidaemia should also be considered:
- Type 2 diabetes
- Chronic kidney disease
- Hypothyroidism
- Medication such as steroids and beta-blockers
- Obesity
- Excessive alcohol consumption
Once individuals are identified, NICE CG71 recommends assessing against standard FH diagnostic criteria, such as the Simon Broome criteria.
Treatment:
- Can be initiated by a specialist with on-going follow-up possible in primary care
- High-intensity statin therapy to achieve LDL-cholesterol goals
  - Dose should be increased to the maximum licensed or tolerated dose to achieve a recommended reduction in baseline LDL-cholesterol of >50%
- Reinforce lifestyle advice: smoking cessation, healthy diet and increasing physical activity