Lipid Management

It is estimated that 4 million men and 3.6 million women were living with heart and circulatory diseases in the UK in 2023, and that these diseases cause around 160,000 deaths each year, or one in four deaths in the UK[1]. Cardiovascular disease (CVD) is also the cause of around 1.18 million hospital admissions and incurs costs of approximately ￡19bn in the UK[2].

Lipids are a group of compounds, which are not soluble in water, and can include fats, steroids, phospholipids and glycolipids[3] meaning they can circulate in the body in plasma, specifically in lipoprotein or lipid particles[4], including LDL (low density lipoprotein) cholesterol and HDL (high density lipoprotein) cholesterol. An excess of LDL cholesterol can put a person at a greater risk of stroke and heart attack[5] and is one of the most significant risk factors for CVD[6] and is “the single biggest condition where lives can be saved by the NHS over the next 10 years”[7].

Familial Hypercholesterolemia

Familial hypercholesterolemia (FH) is a genetic disorder characterised by high cholesterol levels, specifically very high levels of LDL cholesterol. This condition is inherited and affects the way the body processes cholesterol, leading to a higher risk of heart disease and early heart attack.

FH is caused by mutations in genes responsible for removing LDL cholesterol from the blood and is inherited in an autosomal dominant pattern, meaning one copy of the altered gene from either parent can cause the disorder. This also means that people with FH often have a family history of high cholesterol and heart disease and results in high levels of LDL cholesterol from a young age.

FH is diagnosed through a combination of lipid panel tests, family history, and genetic testing.

Heel Prick Tests

The newborn blood spot test (previously known as a heel prick test) is used to check if babies have one of 9 rare conditions[8]. This can be repeated at 1-year to detect other conditions which may not have been detectable shortly after birth, and can then be put through a lipid panel to identify where levels are abnormally high. Should lipid levels reach a given threshold, the sample can be sent on for genetic testing at a genomic laboratory hub. As there are a wide range of mutations which could cause FH, identification of index cases of FH involves complex testing.

Child-Parent Screening

Since FH is inherited, once the specific mutation (index case) is known, other family members can then be tested (cascade testing), with only the single mutation needing to be examined. This means that one diagnosis of FH can lead to multiple further diagnoses, including siblings, the parent from whom it was inherited, and their parents and siblings.

Our work in this area

In 2023, Unity Insights evaluated the Health Innovation Network’s national Lipid Management and Familial Hypercholesterolaemia? programme, the findings of which were included in their summary report. A panel regression analysis indicated that adoption of the Lipids and FH national spread programme was associated with an additional 9,971 people receiving lipid lowering therapies. More widely, the lipids and FH national spread programme was able to demonstrate the concept that a whole pathway improvement programme at a national level can be successfully implemented, and we identified emerging evidence to suggest a positive impact on the treatment of CVD within the NHS in England.

A further Health Innovation Network programme, the Child Parent Screening Service?, led by Health Innovation North East and North Cumbria has been implemented in 71 GP practices across England, and Unity Insights has been commissioned to both evaluate the impact seen as a result, and to gather lessons learned which could be adopted in any future wider roll out. We are due to report on this in 2025.

[1] British Heart Foundation. (2023). UK Fact Sheet. https://www.bhf.org.uk/-/media/files/for-professionals/research/heart-statistics/bhf-cvd-statistics-uk-factsheet.pdf

[2] Cheema, K. M., Dicks, E., Pearson, J., & Samani, N. J. (2022). Long-term trends in the epidemiology of cardiovascular diseases in the UK: Insights from the British Heart Foundation statistical compendium. Cardiovascular Research, 118(10), 2267–2280. https://doi.org/10.1093/cvr/cvac053

[3] Martin, E. A. (2017). A dictionary of nursing (8th edition). Oxford University Press.

[4] Cox, R. A., & García-Palmieri, M. R. (1990). Cholesterol, Triglycerides, and Associated Lipoproteins. In H. K. Walker, W. D. Hall, & J. W. Hurst (Eds.), Clinical Methods: The History, Physical, and Laboratory Examinations (3rd ed.). Butterworths. https://www.ncbi.nlm.nih.gov/books/NBK351/

[5] Heart UK. (n.d.-b). What is cholesterol? Retrieved 11 December 2023, from https://www.heartuk.org.uk/cholesterol/what-is-cholesterol

[6] National Institute for Health and Care Excellence. (n.d.). CVD prevention: CVD risk assessment and treatment. Retrieved 11 December 2023, from https://stpsupport.nice.org.uk

[7] NHS. (n.d.). NHS Long Term Plan ? Cardiovascular disease. Retrieved 11 December 2023, from https://www.longtermplan.nhs.uk/areas-of-work/cardiovascular-disease/

[8] NHS. (2024). Newborn blood spot test. NHS.UK. https://www.nhs.uk/conditions/baby/newborn-screening/blood-spot-test/