Resources for all healthcare professionals to support the early detection and management of patients with Familial Hypercholesterolaemia in the East Genomics region.
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 (opens in a new tab) on understanding, diagnosing and treating FH.
Identifying Patients with Familial Hypercholesterolaemia
The NHS Long Term Plan (opens in a new tab) 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.
