LEEFH is a Dutch non-profit organization that aims to prevent cardiovascular disease and its complications in families affected by familiar hypercholesterolemia (FH). Together with our network consisting of 10 IPU’s within general hospitals, we aim to identify and treat all patients with FH using cascade screening and a nation-wide approach for treatment.
FH is an autosomal inherited genetic disorder, leading to high LDL levels from a young age. Untreated FH patients have an increased risk (up to 85%) to develop premature cardiovascular disease (CVD). Cardiovascular events, such as myocardial infarction or stroke, often happen at a young age (<50 years), having an negative impact on patients and their families. FH has a prevalence of 1:250, which means there are 70.000 patients in the Netherlands. So far, we have managed to track down 30.000 patients. This leaves 40.000 patients untreated, risking early death.
LEEFH uses family cascade screening to detect FH patients as early as possible. If medical treatment and lifestyle interventions start at a young age, LDL levels and hence the risk for CVD can be reduced to those of the general population. Patient value is in the prevention of cardiovascular events, the increase in quality of life and the nudging of a healthier lifestyle for both patients and their families.
Patients have an important role, as they are the central persons in cascade screening. With the help of LEEFH, they inform their families of the genetic disorder and urge them to have a genetic test. Patient empowerment is one of the core values of LEEFH. By increasing health literacy, LEEFH makes sure patients are aware of the effects of their disorder and know what to do to increase their health status.
The LEEFH centres in 10 Dutch hospitals function as IPU’s. Paediatricians, cardiologists, internal (vascular) medicine, clinical genetics and the central laboratory work closely together to give patients the best possible treatment, increase public awareness, arrange proper diagnosis and lead the cascade screening process. The standard of care and way of working are captured in the LEEFH manual, which is used by each of the LEEFH centres. Furthermore, the cross-IPU network coordinated by LEEFH makes sure best practices are shared and care processes are nationally harmonized as much as possible.
LEEFH works closely together with the Dutch Heart Foundation in raising public awareness of the effect of high LDL levels. Also, we aim to participate in international registries and databases. We are often consulted by other countries and are internationally recognized as the best practice for cascade screening and delivering a nation-wide standard of care.
Recently, we have developed a business case that clearly shows the added value of cascade screening. If we look at the full cycle of care, it is more cost effective to start treating patients at young age (<20), than to don’t start treating or only start treatment if the first cardiovascular event has taken place.
Every day, we strive to improve the quality of care for FH patients by sharing best practices and have a continuous focus on detecting as much patients as possible within a short timeframe and with limited resources. Although public funding stopped in 2014, we still manage to track down 500 patients with FH yearly. LEEFH could be the blueprint for tracking down and treating patients with other genetic disorders as well.