Synopsis
Identify inherited LDL elevation before premature vascular disease, confirm the diagnosis through specialist and genetic pathways, and treat the individual while finding affected relatives.
- Suspect FH in adults with total cholesterol above 7.5 mmol/L or a personal or family history of premature coronary heart disease, after secondary causes are excluded.
- Use Simon Broome or Dutch Lipid Clinic Network criteria in primary care; do not invent a diagnosis from one lipid value alone.
- Tendon xanthomata in the patient or a first- or second-degree relative strongly support FH; corneal arcus in a young person is a clue but not diagnostic alone.
Key red flags
A child with high cholesterol plus an affected parent may have heterozygous FH; very early xanthomata or extreme values raise homozygous disease and demand urgent paediatric lipid care.
Investigation priorities
Confirm persistent magnitude and support validated clinical criteria.
Management branches
An adult has marked cholesterol elevation or premature coronary family history.
- Retrieve the highest untreated lipid values, repeat a full profile, examine Achilles and hand tendons and build a three-generation pedigree with ages at coronary events.
- Exclude secondary causes and apply Simon Broome or Dutch criteria, remembering that a standard cardiovascular risk score must not determine treatment eligibility.
Key medicines
High-intensity atorvastatin for heterozygous FHStart with a suitable high-intensity once-daily dose, commonly atorvastatin 20 to 80 mg according to baseline LDL, age, interactions and tolerability, then titrate toward at least 50% LDL reduction.
Ezetimibe add-on therapyTake 10 mg orally once daily with the maximally tolerated statin, or alone when statin treatment is contraindicated or genuinely not tolerated under the NICE pathway.