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Familial Hypercholesterolaemia Information Zone

Resources for all healthcare professionals to support the early detection and management of patients with Familial Hypercholesterolaemia in the East Genomics region.

Picture of someone having blood taken from their own by a healthcare professional

Familial Hypercholesterolaemia

Familial Hypercholesterolaemia (FH) is an inherited genetic condition that causes high levels of cholesterol in the blood. High levels of cholesterol increase the risk of developing cardiovascular disease or having a heart attack at a much younger age. If FH is left untreated, 50% of affected males will have cardiovascular disease by the age of 50 and 30% of women will have cardiovascular disease by the age of 60. Early treatment and management of FH significantly improves cardiovascular outcomes.

FH is a genetic condition where the gene changes that cause FH disrupt the normal expression of genes that regulate serum cholesterol levels. FH is usually an autosomal dominant genetic disorder. This means that, first degree relatives of a patient with FH will have a 50% chance of also being affected.

FH is common in the UK population with at least one in 500 individuals thought to be affected. However, current estimates suggest that only 10-15% of individuals affected are actually aware that they have FH.

Patients with a high likelihood of FH can be identified through cholesterol testing, physical examination and reviewing family history of cardiovascular disease. Confirmation of a FH diagnosis using genetic testing may inform on treatment and management, and will enable cascade testing to identify affected relatives.

HEART UK has produced three short videos for healthcare professionals on understanding, diagnosing and treating FH.

Identifying Patients with Familial Hypercholesterolaemia

The NHS Long Term Plan aims to increase the number of individuals tested for FH to improve patient outcomes. To support these aims, genetic testing for FH is now centrally commissioned by NHS England and all healthcare professionals in the East of England and East Midlands can order FH genetic testing for their patients.

See our other FH information pages:

Additional Resources:

Lipid Clinics in the East Midlands and East of England

Lipid Clinic contact details in the East Midlands and East of England

Further guidance including identifying and managing FH and lipid management
  • NICE Clinical guidelines for identifying and managing FH – covers diagnosis, identifying people with FH using cascade testing, drug treatment, lifestyle interventions and specialist treatment, information and support on contraception for women with FH and for pregnant women with FH, and review and referral for evaluation of coronary heart disease.
  • Primary Care lipid management guidance - resource designed to help primary care teams develop a population health management approach to lipid management.
  • Primary Care PCN Network Contract DES IIF - the NHS Long Term Plan commits to increasing the diagnosis of FH from 7% to 25% by 2024/25. This indicator recognises PCNs for systematically searching their patient list to identify those with possible FH, excluding any potential secondary causes, assessing further using Simon Broome or Dutch Lipid Network criteria, and then referring on for specialist assessment and/or genetic testing for FH in line with local pathways.
  • Simon Broome guidance
Educational Resources for Health Care Professionals
Resources for Patients and Families with Familial Hypercholesterolaemia

Useful resources for patients and family members can be found on the British Heart Foundation and Heart UK websites.