Finding and linking people at risk of familial hypercholesterolemia to care
Familial hypercholesterolemia (FH) is an inherited disease caused by a mutation in any of the three genes that affects the way the body handles cholesterol. FH causes high cholesterol from childhood, and a great risk of cardiovascular events such as heart attack and stroke, as early as in the 40s. It is estimated that approximately 33 000 people in Sweden have the disease, but only 2-3 percent are being diagnosed.
Children have a 50 percent risk of inheriting the disease from a genetic parent, which is why screening of families is an important method of finding individuals at risk of disease.
FHabian is a digiphysical tool for cascade screening of familial hypercholesterolemia tailored for the Swedish market. The tool has been developed as an innovation project in collaboration between Karolinska University Hospital, Health Solutions and Amgen. The tool is built using technology developed by Health Solutions.
The tool makes it possible to:
- Invite all relatives of an index patient to be screened for FH.
- Achieve seamless screening across healthcare regions.
- Get an overview of number of people invited to screening, number of people getting tested and an overview of the results.
- Follow up and communicate results of testing.
The screening tool is up and running since February 2021 in the Stockholm Region, with plans to extend the service with pilots in other regions during 2021.