Overview
Familial hypercholesterolaemia (FH) is an autosomal dominant condition characterised by increased levels of low-density lipoprotein (LDL) cholesterol. FH is caused by a mutation in the gene that codes for the LDL-receptor protein, which normally removes LDL from the circulation.
FH should be suspected if total cholesterol is >7.5 mmol/L and there is a family history of premature coronary heart disease (CHD).
Epidemiology
- FH has a prevalence of around 1 in 500
- The UK has one of the highest average serum cholesterol levels across the globe
Diagnosis
Simon Broome criteria
Adults with a total cholesterol >7.5 mmol/L + LDL cholesterol >4.9 mmol/L, or children with a total cholesterol >6.7 mmol/L + LDL cholesterol >4.0 mmol/L can be diagnosed with:
- Definite FH if there are xanthomata in a 1st- or 2nd-degree relative or genetic evidence of FH
- Possible FH if there is a family history of myocardial infarction <60 years in a 1st-degree relative, or <50 years in a 2nd-degree relative, or a family history of hypercholesterolaemia
Management
- 1st-line: high-dose statins + referral to specialist clinic
