Familial Hypercholesterolaemia (FH)
When to Suspect FH
LDL ≥5 mmol/L or TC ≥7.5 mmol/L
Personal or family history of premature CVD (<55yrs)
Presence of tendon xanthomas or arcus cornealis (<45yrs)
Confirm diagnosis using Dutch Lipid Clinic Network criteria:
>8: Definite FH
3–8: Probable FH
<3: Unlikely FH
Management
Smoking and alcohol cessation
Reduce dietary saturated fat intake
Weight loss (5–10%) and regular exercise (≥150 mins/week)
High-potency statins (e.g., atorvastatin 40–80mg) → target ≥50% LDL reduction
Consider ezetimibe or PCSK9 inhibitors if LDL goals not met despite statins
ACEi if patient has confirmed FH (high CVD risk) with HTN or diabetes
Counselling Advice
Emphasise high lifetime CVD risk; screen all 1st-degree relatives (50% chance of inheritance)
Educate patients to encourage family members to undergo lipid testing
Provide regular annual reviews for CV risk factors and lipid control
Refer to lipid or cardiology clinic if FH suspected but diagnostic uncertainty exists
Investigations
Bloods:
Lipid profile (LDL ≥5 mmol/L, TC >7.5 mmol/L)
FBC, UECs, LFTs (prior to statins), HbA1c, TFTs (rule out secondary causes)
Imaging:
Coronary artery calcium (CAC) score to detect subclinical atherosclerosis
Genetic Testing:
If strong clinical suspicion remains, confirm with LDLR gene testing
Complications
Premature CAD (e.g., MI, angina)
Stroke/TIA → Increased cerebrovascular disease risk
Peripheral artery disease
Aortic stenosis (lipid deposition in valve)
Tendon rupture (secondary to xanthomas)
Additional notes:
Most FH can be managed in GP settings if LDL well controlled
Dietary changes alone are insufficient; pharmacological therapy required
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