Intended for healthcare professionals


Families at risk of genetically high cholesterol are not being spotted, says royal college

BMJ 2011; 342 doi: (Published 26 January 2011) Cite this as: BMJ 2011;342:d520
  1. Helen Mooney
  1. 1London

The NHS is failing to diagnose thousands of cases of the genetic heart condition familial hypercholesterolaemia, which if diagnosed early enough can be successfully managed, the Royal College of Physicians has warned.

An audit carried out by the college’s clinical standards department shows that about 120 000 people in the United Kingdom are at risk from the inherited condition, which causes high concentrations of LDL cholesterol and early heart disease.

The report shows that around half of men with familial hypercholesterolaemia, if untreated, will have developed heart disease by the age …

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