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Ep 37 – Identifying and managing familial hypercholesterolaemia


Posted 23 Dec 2021

Dr Kevin Fernando

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

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