Smart digital care chain will identify more people at high risk of heart disease
The endocrinology medical unit has developed a digital care chain in order to trace people with the genetic blood-lipid disorder familial hypercholesterolemia. With the right diagnosis and treatment, it is estimated that 600 serious cardiovascular events and 18 deaths will be prevented in Stockholm alone.
Familial hypercholesterolemia (FH) is a genetic disorder affecting blood lipids, and causes high levels of cholesterol in the blood from a young age. This leads to the early development of atherosclerosis and a much higher risk of cardiovascular diseases, including heart attacks and strokes. It can be prevented by providing treatment with lipid-lowering agents at an early stage.
High cholesterol in itself does not result in any symptoms, so it is possible to live with familial hypercholesterolemia without being aware of it. It is only when atherosclerosis develops that symptoms arise. The importance of identifying and treating this group preventively has been shown by a Norwegian study, where half of those who had not received treatment suffered from cardiovascular disease by the age of just 44 years.
In Sweden, it is estimated that around 33,000 individuals are living with the disorder, although only a few are aware of their diagnosis.
"It is not possible to screen the entire population for familial hypercholesterolemia – partly because of the huge amount of work involved with today's manual methods, but also because of the high costs of taking samples and performing genetic testing", explains Karin Littmann, who is a specialist registrar and one of the people behind a development project for screening for familial hypercholesterolemia.
Screening becomes more effective if conducted in groups where there is a high likelihood that many of the individuals will have the same disorder.
"Due to the pattern of genetic heredity, close relatives of patients with familial hypercholesterolemia have a 50 per cent risk of also being affected, and it is in this group that we are now beginning to conduct the screening", says Littmann.
The digiphysical care chain
The so-called digiphysical care chain that has been established includes a digital platform that will facilitate communication between care providers and patients, and will also complement the regular physical care. Doctors and IT developers, working in consultation with lawyers, have found a solution that will save resources, while also being both IT-secure and user-friendly.
"Nothing similar has existed before in Sweden, nor even anywhere else in the world, as far as we're aware", says Karin Littmann.
The screening model is currently being tested, but from 1 April it is used as part of the routine medical care at Karolinska for the cascade screening of relatives of patients with familial hypercholesterolemia.
"We realise that we won't be able to identify everybody, but this represents a huge improvement compared to how things are today, where all we can do is to plead with patients during a 30minute appointment to remember to inform their relatives. We have facilitated contact and made it easy for the relatives to seek care", says Jonas Brinck, who is the senior physician in charge of the patient group for blood lipid disorders at Karolinska University Hospital.
Hoping to disseminate the working approach
The hope is that this approach will be shared with more hospitals and with other groups at high risk of developing familial hypercholesterolemia, such as younger patients with heart attacks.
"When we are able to make full-scale use of the model, we expect that within 3 years we will be able to identify and diagnose half of all those who have familial hypercholesterolemia in Region Stockholm, which amounts to around 3,700 people", says Jonas Brinck.
A health-economic calculation shows that the provision of preventive medical treatment could prevent 600 serious cardiovascular events and 18 deaths over the course of 20 years.
Patients who have been diagnosed with familial hypercholesterolemia log in to an IT-secure website, using a digital form of ID. The patients choose which relatives shall be asked to attend screening. The relatives receive an email or text message containing a link so they can log in to the website. If the relatives agree to participate, they will be asked to answer a number of questions and sent an electronic referral for the testing of their blood lipids. The doctor's assessments and recommendations will then be shared digitally with the relatives via the website.
The occurrence within the population is estimated at 1:311, which means that there are around 7,500 patients with familial hypercholesterolemia in Region Stockholm, and 33,000 patients in Sweden as a whole. In 2020, only 312 individuals in Stockholm had been listed with this condition in the register of the National Board of Health and Welfare. The corresponding figure for the whole of Sweden was 1,062.
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