Familial Hypercholesterolaemia

Department of Health written question – answered am ar 30 Mawrth 2017.

Danfonwch hysbysiad imi am ddadleuon fel hyn

Photo of Alan Meale Alan Meale Llafur, Mansfield

To ask the Secretary of State for Health, what steps his Department is taking to ensure that diagnosis and management of familial hypercholesterolaemia is consistent across England.

Photo of Alan Meale Alan Meale Llafur, Mansfield

To ask the Secretary of State for Health, what steps his Department is taking to help all clinical commissioning groups to provide adequate access to genetic cascade testing services for familial hypercholesterolemia in their areas.

Photo of Nicola Blackwood Nicola Blackwood The Parliamentary Under-Secretary of State for Health

NHS England and Public Health England are working to raise the profile of familial hypercholesterolaemia (FH) and break down the barriers to genetic testing. Specifically, FH is emphasised in the NHS England Prevention aide memoire to support Sustainability and Transformation Planning, which is available at:


NHS England’s National Clinical Director for heart disease chairs an FH steering group which comprises representatives from relevant stakeholder organisations, including Public Health England. This group, with funding from the British Heart Foundation, has established FH specialist nurses in many areas of England, aimed at increasing FH cascade testing across the country so that more affected families can be identified. The steering group aims to develop a systems approach to the detection and management of FH.

One third of England is now covered by these FH nurses as well as cascade testing, and over the last three years more than 1,000 new people with FH have been identified.

Software to support cascade testing and provide a database for FH is available and will be increasingly used in England as FH services are established.

NHS England has also identified FH as a possible condition that it could focus on as part of the work looking into personalised medicine and how the NHS might make better use of increased genetic testing.

Finally, a cholesterol test is included as part of the NHS Health Check that is mandated by the Health and Social Care Act for delivery across all local authorities in England. Revised NHS Best Practice Guidance published in February now includes strengthened guidance for detection of FH as part of the NHS Health Check. Every patient with a cholesterol test result above 7.5mmol/l (as per National Institute for Health and Care Excellence guidance) will be alerted to their general practitioner for consideration of FH in combination with other diagnostic criteria.

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