Familial hypercholesterolaemia (FH), a high concentration of cholesterol in the blood, is caused by a genetic defect that shows an autosomal dominant pattern of inheritance. This means that siblings and children of a person with FH have a 50% chance of inheriting the condition. FH leads to a greater than 50% risk of heart attack in men by the age of 50 years, and at least a 30% risk in women by the age of 60 years.  However, early treatment with lipid lowering drugs can increase life expectancy to near the average for the non-FH population.
It is estimated that familial hypercholesterolemia (FH) occurs in 1 in 500 people. The prevalence is estimated to be circa 120,000 in the UK but the condition is often not recognised clinically (less than 15% of FH cases are currently detected) and even less commonly, properly diagnosed by genetic testing (less than 5%). It is estimated that if 50% of people with FH were diagnosed and received treatment, the NHS could save £1.7 million per year on treating cardiovascular disease. Implementation of cascade screening could save the NHS £1.4 million per year 
Systems for testing relatives of patients with FH are lacking, particularly in England, though a family cascade testing system is being implemented in Wales and currently being developed in Northern Ireland. The service in Wales received pump priming from the BHF in 2010 for specialist nursing input prior to full NHS funding.
Action Point 5 of the Cardiovascular Disease Outcomes Strategy for England, published in March 2013, states that ‘…The National Clinical Director for Heart Disease (NHS England) will work with all relevant stakeholders to develop and spread good practice in relation to FH and sudden cardiac death’.
Therefore, the British Heart Foundation (BHF) is making a second wave of funding available to support FH Cascade Testing Services in England, Northern Ireland and Scotland.
South Yorkshire has recently commissioned services in Sheffield (BHF Supported) and Doncaster. CCG’s in the rest of the Yorkshire and Humber region are looking at establishing an FH service as part of 2015/16 commissioning intentions to support equity of access for patients regionally.
Useful sources of information on FH Cascade Screening
FH Report, Saving lives, Saving Families by HEART UK
 NICE Guidelines 2008
 NICE Quality Standard 2013
 NICE Support for commissioning for familial hypercholesterolaemia
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