What are the key clinical features and family history indicators that suggest a diagnosis of familial hypercholesterolaemia (FH)?

Guideline-aligned answer with reasoning, red flags and references. Clinically reviewed by Dr Kola Tytler MBBS CertHE MBA MRCGP.

Posted: 16 August 2025Updated: 16 August 2025 Guideline-Aligned (High Confidence) Clinically Reviewed

Dr Kola Tytler MBBS CertHE MBA MRCGPClinical Lead • iatroX

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 .
Presence of tendon xanthomata, corneal arcus, or other physical signs, although their absence does not exclude FH .

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) .
A personal or family history of premature CHD, which is a key factor in suspecting FH .
Multiple family members with high cholesterol levels or early cardiovascular events .

Key References