Amyloidosis is a condition in which certain proteins are folded incorrectly. The proteins accumulate in organs, which cause them to function less well and eventually fail. Untreated, the consequences are fatal, but there are now medicines that slow down the accumulation.
Different shapes
So a pill issue? Christian Knackstedt, cardiologist and one of the project leaders in the research started at the beginning of this year, smiles. “If only it were that simple,” he says. “There are more than thirty different forms of amyloidosis. Two of them are known to affect the heart. Each type requires specific treatment. Medications can slow down the process, but once accumulated proteins linger and therefore cause complaints. Cure is currently impossible. We also want to find out whether other diseases, heredity or lifestyle play a role.”
Early detection
Early detection is therefore vital. “That’s right,” says Anouk Achten, who is a PhD student involved in the research. “The sooner we can stop the process with drugs, the better. The question is how do we track down potential patients? Once they have complaints, we are actually too late. In principle, it is possible to detect amyloidosis with a bone scan, but then you would have to set up a broad population study. This would allow us to detect and preventively treat one in a thousand people or even fewer with heart problems.”
Scan en interview
A broad population screening is too expensive, reason to start a research project. Anouk now screens four (former) patients from MUMC+ and Zuyderland every week. “We invite them for a scan and an interview,” says the doctor who graduated in Maastricht last year. We are building a database and expect to draw conclusions in two to three years’ time. Ultimately, we hope to prevent a very annoying condition for thousands of people. Heart failure is very stressful. Patients are short of breath, often retain fluid, are fatigued, have a weak condition and can die from it.”
over seventies
“Heart failure mainly affects people over seventy”, adds Christian, who has been a cardiologist at Maastricht UMC+ since 2010, “and is therefore becoming more common with the aging population and the increase in the average age. By screening (former) patients, we find out whether amyloidosis was the cause. If that is the case, we will look at hereditary burden, certain characteristics and possible causes. The aim is also for cardiologists and other doctors to recognize the condition in potential patients. If we determine certain characteristics, more cases can be prevented or treated sooner in the future.”
MUMC+ and Zuyderland
MUMC+ and Zuyderland are working together in the research, and progress is also coordinated with the academic expertise centers of Utrecht, Rotterdam and Groningen. “This project will not only teach us a lot about the role of amyloidosis in heart disease, but also in other diseases in other medical fields,” Christian concludes. “However, research is expensive, we constantly need funds to pay researchers and equipment. A contribution from the Limburg Heart and Vascular Research Fund is essential.”