Thousands of people in England are unaware that they are at risk of developing heart disease due to an undiagnosed genetic condition, according to the Royal College of Physicians.
Familial hypercholesterolaemia (FH) is an inherited condition causing high levels of LDL cholesterol, and increased risk of coronary heart disease in men in their 50s and women in their 60s. Early treatment with statins has been shown to reduce risk and improve life expectancy to normal. A pilot audit of 248 cases in 12 hospitals in England and two in Wales, funded by the Department of Health and the Welsh Assembly Government and carried out by the Clinical Effectiveness and Evaluation Unit at the Royal College of Physicians, found that while care for identified patients was generally good, very 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 treatment and screening will not only save many lives, but will save the NHS vital resources in future. The audit report makes several key recommendations: • NHS Trusts will need additional resources to find the undiagnosed cases, in particular more specialist doctors and nurses, and funding to pay for DNA diagnosis. • Systems need to be developed to carry out “cascade” family testing, following up families and setting up an FH patient database. • Clearly defined and agreed care pathways for FH patients are needed in each NHS Trust, including better facilities for seeing children and young people in appropriate settings.
