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Decision to reject screening for familial hypercholesterolaemia is flawed
  1. David S Wald1,
  2. Andrew C Martin2
  1. 1Wolfson Institute of Preventive Medicine, Queen Mary University of London, London, UK
  2. 2Dept of Paediatric and Adolescent Medicine, Princess Margaret Hospital for Children, Perth, Western Australia, Australia
  1. Correspondence to Professor David S Wald, Wolfson Institute of Preventive Medicine, Queen Mary University of London, London E1 4NS, UK; d.s.wald{at}qmul.ac.uk

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The UK National Screening Committee (NSC) in February 2020 put thousands of families at risk of premature myocardial infarction by rejecting screening of children for familial hypercholesterolaemia (FH) to prevent ischaemic heart disease (IHD).

FH is a silent killer of young adults. There about 260 000 FH-positive individuals in the UK with only about 7% so far identified. About half will have a myocardial infarction before age 50 years without treatment. Prevention works if started early in life and is simple—lowering serum cholesterol, with statins, which abolishes the excess IHD risk caused by the high cholesterol.1

Child-parent screening involves a heel prick blood test during routine immunisation at 1 year of age and once a child is identified the parents are tested; one will be affected since FH is inherited as an autosomal dominant and then other family members undergo cascade testing.2 Such child-parent cascade screening and treatment would prevent about 4000 myocardial infarctions in the UK each year under age 50 years, about half of them fatal. Why would this not be introduced as a national screening programme? The NSC came up with five reasons, all in our view, mistaken.

The first mistake was a failure to consider FH as a familial problem. The NSC considered only the child and failed to recognise that preventing the premature death of a parent is a benefit, of course to the parent, and to the child and family.

The second mistake was a failure to recognise that an FH mutation is not the disorder, it is part of the …

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Footnotes

  • Contributors DW conceived the paper and wrote first draft. DW and ACM reviewed and revised paper and approved the final version for submission.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests DW is Chair of the Expert advisory Group to NHS England and was Principal Investigator for the MRC-funded Child-parent Screening Study.

  • Patient consent for publication Not required.

  • Provenance and peer review Commissioned; internally peer reviewed.

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