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Health Through Data

Digiphysical screening can prevent early cardiovascular events

23 April 2021

FHabian is a newly developed webbased platform for cascade screening of populations at risk of having the genetic disease familial hypercholesterolemia (FH). The interactive platform is the centrepiece of a digiphysical health care chain that makes it possible to invite all relatives of an index patient to be screened for FH. FHabian is the result of a collaborative innovation project and has been built using technology developed by Health Solutions. The continued development of FHabian recently received funding from Vinnova and the innovation fund of Stockholm Region

At present more than 30 000 people in Sweden are estimated to have undiagnosed familial hypercholesterolemia (FH), according to studies. The condition is caused by a mutation in any of the three genes that affects the way the body handles cholesterol. As a result, these individuals have high cholesterol from childhood, and a great risk of acute cardiovascular events, such as heart attack and stroke, at an early age. The disease is asymptomatic until cardiovascular events present.

- These individuals are at great risk of having acute coronary events in their 40s. With early diagnosis and treatment this risk is significantly reduced, says Karin Littmann, MD, PhD and specialist in clinical chemistry at Karolinska University Hospital.

FH is inherited in an autosomal dominant way, meaning that children have 50 percent risk of inheriting the disease from a genetic parent. In many cases FH can be diagnosed based on a screening questionnaire followed by a blood sample measuring level of cholesterol, but in some cases genetic testing may be essential.

However, caregivers are not allowed to seek out relatives at risk but can encourage diagnosed patients to ask their relatives to be screened for FH. But this way of manually linking large groups of people to healthcare, possibly across healthcare regions, is a resource and time-consuming task. Although initiatives are made, systematic screening has not been a part of routine care.

- FH is a disease that is well suited for digiphysical cascade screening, and with FHabian we have developed an effective and time-saving process to increase the possibility to find undiagnosed individuals, says Karin Littmann.

FHabian is an innovation project in the Stockholm region, a collaboration between Karolinska University Hospital, Health Solutions and Amgen.

- This is a completely new approach to screening and the collaborative approach to this project has been essential to make it successful. Each partner has brought important perspectives, all necessary to make a tool that is easy to use for both patients and caregivers. And the response from patients has been very positive, says Jonas Brinck, MD, PhD and senior consultant in endocrinology at Karolinska University Hospital.

Karin och Jonas från FHabian

One important aspect of the project is that FHabian enables seamless screening and testing across healthcare regions. 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. You can find more information about FHabian here


Cecilia Sällström


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