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Hypercholesterolaemia - familial - Management
How do I confirm a diagnosis in adults?
- Use the Simon Broome criteria to make a diagnosis of heterozygous familial hypercholesterolaemia (FH):
- Diagnose definite FH in an adult with:
- Total cholesterol greater than 7.5 mmol/L, low-density lipoprotein cholesterol (LDL-C) concentration greater than 4.9 mmol/L, and tendon xanthomata (or evidence of tendon xanthomata in a first- or second-degree relative), or
- An identified genetic mutation for familial hypercholesterolaemia.
- Diagnose possible FH in an adult with total cholesterol greater than 7.5 mmol/L, LDL-C greater than 4.9 mmol/L, and at least one of the following:
- Family history of myocardial infarction: before 60 years of age in a first-degree relative, or before 50 years of age in a second-degree relative.
- Family history of raised total cholesterol: greater than 7.5 mmol/L in an adult first- or second-degree relative, or greater than 6.7 mmol/L in a child, brother, or sister younger than 16 years of age.
- Consider a clinical diagnosis of homozygous FH in adults with LDL-C greater than 13 mmol/L.
- Refer to a specialist with expertise in FH for confirmation of the diagnosis.
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