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Hypercholesterolaemia - familial - Management
Additional information
Cascade testing
- This involves identification of affected relatives by DNA testing (if available) and/or measuring low-density lipoprotein cholesterol (LDL-C) concentration.
- In families in which a mutation is identified, the mutation (and not LDL-C) should be used to identify affected relatives.
- In the absence of DNA diagnosis, diagnosis in relatives of an affected individual should be by age- and gender-specific criteria for LDL-C concentration. The Simon Broome criteria should not be used for diagnosis of affected relatives following cascade testing.
- It is envisaged that cascade testing should include first-, second-, and, where possible, third-degree relatives, as part of a nationwide, family-based follow-up system.
[NICE, 2008]
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