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What are the key clinical features and family history indicators that suggest a diagnosis of familial hypercholesterolaemia (FH)?
Answer
Guideline-Aligned (High Confidence)
Generated by iatroX. Developer: Dr Kola Tytler MBBS CertHE MBA MRCGP (General Practitioner).
Last reviewed: 16 August 2025
Key clinical features that suggest a diagnosis of familial hypercholesterolaemia (FH) include:
- LDL‑C concentration greater than 13 mmol/l in adults or greater than 11 mmol/l in children and young people, which indicates a clinical diagnosis of homozygous FH 2.
- Presence of tendon xanthomata, corneal arcus, or other physical signs, although their absence does not exclude FH 2.
Family history indicators include:
- A family history of premature coronary heart disease (CHD) in first-degree relatives (before age 60) or in second-degree relatives (before age 50) 1.
- A personal or family history of premature CHD, which is a key factor in suspecting FH 1.
- Multiple family members with high cholesterol levels or early cardiovascular events 2.
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