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Cascade Testing to Identify FH Cases
chart
This figure is based on a NICE algorithm for cascade testing for Familial Hypercholesterolemia

 

Cascade Testing to Identify FH Cases

Patient with a clinical diagnosis of FH (arrow down)

Has an FH gene mutation been identified? (double arrow down to "yes" or "no")

Yes = Use the mutation, and not LDL cholesterol measurements, to identify affected biological relatives.

No = Use specialized gender- and age-specific LDL cholesterol criteria to identify affected biological relatives.

Include at least first- and second-degree (and if possible, third-degree) biological relatives.

References

  1. Versmissen J, Oosterveer DM, Yazdanpanah M, et al. Efficacy of statins in familial hypercholesterolaemia: a long term cohort study. BMJ. 2008;337:a2423.
  2. Neil A, Cooper J, Betteridge J, et al Reductions in all-cause, cancer, and coronary mortality in statin-treated patients with heterozygous familial hypercholesterolaemia: a prospective registry study. Eur Heart J. 2008;29:2625-2633.
 

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