A recent Royal College of Physicians audit has identified that 100,000 people in the UK are at risk from an undiagnosed heart condition, familial hypercholesterolaemia (FH).
FH is an inherited condition causing high levels of LDL cholesterol, which causes early heart disease. Around half of men with FH, if untreated, will have developed heart disease by the age of 55 years, and around one-third of women by the age of 60. Half of their firstdegree relatives will be similarly affected, but are often unaware of the condition. Early identification of FH is crucial because early treatment with statins and lifestyle changes have been shown to reduce risk and improve life expectancy to normal. An audit of over 2,324 adults and 147 children in 122 sites across the UK, funded by the RCP, British Heart Foundation, HEART UK and the Cardiac Network Co-ordinating Group of Wales and carried out by the RCP Clinical Standards Department, found that while care for identified patients was generally good, few families were being systematically genetically screened, and there were not enough facilities for diagnosing and treating children with FH in the right care settings. The audit standards were based on the NICE clinical guidelines for the diagnosis and management of FH, published in 2008. An estimated 120,000 people in England have the condition, as many as have Type I diabetes, and 85% of cases are currently undiagnosed. Improving resources for screening and treatment will save lives as well as NHS resources.
