This World Heart Day, we’re shining a spotlight on a condition that affects more than 200,000 people in England. Familial hypercholesterolaemia (FH) is an inherited condition that causes very high cholesterol from birth.
Early diagnosis can be life-changing. FH affects around one in 250 people and although the condition significantly increases the risk of developing coronary heart disease at a young age if it is left untreated, many remain undiagnosed.
FH also runs in families, and so identifying one person with the disorder can help with screening and treatment for parents, siblings and children who may also be affected.
Harefield Hospital is one of the few centres in the country that has a team of specialist nurses who offer everything from screening and genetic testing to treatment for FH. Recently, the team has transformed the patient pathway, reducing waiting times and helping more people access potentially life-saving treatment sooner.
Claire Chalwin, clinical nurse specialist (pictured), explains: “Previously, genetic screening appointments could take up to an hour, followed by lots of administration to document family histories and process paperwork. Patients often waited months for appointments. Some no longer understood why they had been referred.
“New digital systems enabled us to redesign the pathway and improve the triage process. Patients now receive information digitally before their appointment. This allows them to review consent forms and learn about FH in advance. Screening appointments were also streamlined – we now use digital templates within Epic and postpone gathering unnecessary information until genetic confirmation is received.”
The results have been striking. The redesigned pathway has increased nurse-led clinic capacity, meaning the team has been able to screen and test more patients, more quickly, while reducing waiting times from 56 weeks to around 16.
Most importantly, patients can now be diagnosed and treated more quickly. Earlier identification of FH means patients can begin cholesterol-lowering treatment sooner, while relatives can be offered testing before symptoms develop. This includes children, who can benefit from monitoring and treatment at an appropriate age, helping to reduce their risk of future heart disease.
Reflecting on the project, Claire Chalwin, clinical nurse specialist, says: “FH is a leading cause of heart disease and strokes, but it is underdiagnosed in England. The sooner it is detected, the quicker we can treat it. I’m so proud that our team has been able to innovate our approach to improve screening efficiency and access to genetic testing. The changes will support FH detection and help more patients and families get the care they need to prevent serious heart conditions.”
This nurse-led innovation has been showcased through award-winning poster presentations at a recent Heart UK conference and attracted interest from colleagues across the country because of its potential to be adopted by other lipid and genetic services.