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 Research at Umeå University has shown that the hereditary form of amyloidosis known as Skellefteå disease does not increase the risk of aortic stenosis, in contrast to previous findings on non-hereditary wild-type amyloidosis.

ImageJohnér bildbyrå

“Our findings were expected based on clinical experience, but needed to be investigated to provide greater clarity, including with regard to potential differences between various types of amyloidosis,” says Kurt Boman, lead author, consultant cardiologist and internal medicine specialist, and Professor Emeritus at the Department of Public Health and Clinical Medicine at Umeå University.

Kurt Boman, consultant cardiologist and internal medicine specialist, and Professor Emeritus at the Department of Public Health and Clinical Medicine at Umeå University.

ImageOla Westerberg

Amyloidosis is a rare condition in which proteins produced by the body misfold and accumulate in organs such as the heart, nerves, and kidneys. These deposits disrupt normal organ function and can, over time, lead to serious damage.

In recent years, several international studies have highlighted a link between aortic valve stenosis and amyloidosis. Some studies have found that 11–20% of patients who underwent surgery for aortic stenosis also had amyloidosis. However, these cases involved a specific form of the disease known as wild-type amyloidosis, a non-hereditary variant.

In northern Sweden, a hereditary form of amyloidosis known as Skellefteå disease is present. This has raised the question of whether a similar association exists between this condition and aortic stenosis.

A research group at Umeå University led by Kurt Boman has conducted a cross-analysis of the surgical registry and the amyloidosis registry at Umeå University Hospital to investigate the co-occurrence of aortic stenosis and amyloidosis.

Jonas Wixner, physician at the Department of Public Health and Clinical Medicine at Umeå University.

Image Elin Berge

The results indicate that the prevalence of aortic stenosis in patients with hereditary amyloidosis does not appear to exceed the expected baseline prevalence in the general population of northern Sweden.

“The hereditary form differs in several key aspects from non-hereditary amyloidosis, particularly in terms of age and sex distribution, and likely also in other underlying mechanisms,” says Jonas Wixner, physician at the Department of Public Health and Clinical Medicine at Umeå University.

The findings have been published in the journal European Journal of Internal Medicine.