guidelines

familial hypercholesterolaemia (fh)

nice cg71: case-finding for very high ldl/tc, referral for specialist confirmation/genetics, and cascade testing of relatives.

last reviewed: 2026-02-13
based on: NICE CG71 (published 27 Aug 2008; last updated 04 Oct 2019; last reviewed 11 Jul 2024)

When to suspect FH (primary care triggers)

  • Outlier lipids: very high LDL/total cholesterol, especially with family history of premature CHD.
  • Physical signs: tendon xanthomas (Achilles/extensor tendons) are strongly suggestive; corneal arcus at a young age adds weight.
  • Exclude secondary causes: hypothyroidism, nephrotic syndrome, cholestasis, uncontrolled diabetes, medications.

What to do now (while awaiting specialist review)

  • Refer: to a lipid/FH service for confirmation, genetic testing where appropriate, and cascade testing.
  • Start high-intensity statin if suitable (e.g., atorvastatin 80 mg OD) and reinforce adherence; add-on therapy (ezetimibe/PCSK9) is usually specialist-led.
  • Family: explain that relatives may need testing even if asymptomatic (cascade testing is the high-yield public health move).

Frequently asked questions

Should I use QRISK to decide on statins in suspected FH?
No — QRISK underestimates lifetime risk in FH. Use FH pathways; most adults with FH warrant intensive lipid lowering regardless of QRISK.

Transparency

This page is an educational, clinician-written summary of publicly available NICE guidance intended for trained healthcare professionals. It uses original wording (not copied text) and should be used alongside the full NICE source, local pathways, and clinical judgement. Doses provided are for general reference; always check the BNF/SPC.