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

Key clinical features that suggest a diagnosis of familial hypercholesterolaemia (FH) include: a total cholesterol level greater than 7.5 mmol/l in adults or greater than 9.0 mmol/l in those aged 30 years or older, or a high LDL-C concentration (greater than 13 mmol/l in adults or greater than 11 mmol/l in children and young people) ⁴.

Additional clinical features include: the presence of tendon xanthomata, corneal arcus, or other signs of hyperlipidaemia, although their absence does not exclude FH ⁴.

Family history indicators that suggest FH include: a personal or family history of premature coronary heart disease (before age 60 in an index individual or first-degree relative), or a family history of hypercholesterolaemia or high cholesterol levels ⁴.