Commentary: Controversies in NICE guidance on familial hypercholesterolaemia

doi:10.1136/bmj.a1304

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David Wald, consultant cardiologist and senior lecturer

¹Wolfson Institute of Preventive Medicine, Barts and the London School of Medicine, London EC1M 6BQ

d.s.wald{at}qmul.ac.uk

The recommendations from the National Institute for Health and Clinical Excellence (NICE) on the management of familial hypercholesterolaemia give guidance in three general areas: diagnosis, treatment, and screening to identify new cases.1 The guidelines are immediately applicable to diagnosis and treatment, but the way forward on screening will need a new approach.

Cascade testing and assigning risk in families

The guidelines propose cascade testing, a term used to describe searching for affected relatives of an inherited disorder once an affected person is known and repeating this process every time another affected individual is found. This is appropriate in general medical practice as 1 in 2 first degree relatives of someone with familial hypercholesterolaemia will also have the condition. The diagnosis of an index case is initially made clinically, and a gene mutation causing familial hypercholesterolaemia is found in up to about 80% of cases, depending on which test is used.1

The guidelines recommend that cascade testing include both DNA analysis and cholesterol measurement. If a mutation causing familial hypercholesterolaemia is identified, this …