DT News - Nordic - Rare autoimmune disease could be more common than previously thought

Dental Tribune International

Thu. 2 July 2015

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BERGEN, Norway: Researchers from the University of Bergen have found that a rare autoimmune disease called autoimmune polyendocrine syndrome Type 1 (APS-1) may be more common than previously believed. The hereditary condition usually occurs during childhood and is associated with diabetes, dental issues, loss of pigmentation and a number of other problems, especially concerning the internal organs.

Autoimmune polyendocrine syndromes are relatively rare diseases that often include Type 1 diabetes as part of the disease phenotype. The study, led by Prof. Eystein Sverre Husebye from the Department of Clinical Science at the university, aimed to unravel some of the underlying mechanisms of the condition, which is proven to be caused by mutations in an important autoimmune regulator gene known as AIRE.

The findings, which were based on patient examinations, as well as biochemical and population analyses, showed that APS-1 may occur in adults too, but with more diffuse symptoms. Owing to a lack of knowledge about the illness, many patients may have been misdiagnosed with other autoimmune diseases, rather than with APS-1, the scientists concluded.

“The new findings could be important to make the right diagnosis and treatment in the future. Doctors should be aware that symptoms misinterpreted as other diseases may actually be a type of APS-1. It could be beneficial to screen the patients for mutations in the AIRE gene more often, to get the right diagnosis quickly in place,” Husebye said.

In order to evaluate dental problems in APS-1 patients, the scientists collaborated with the university’s Faculty of Medicine and Dentistry. Regarding these, Husebye told Dental Tribune Online: “APS-1 patients commonly have various degrees of enamel hypoplasia/dysplasia, almost exclusively of the permanent teeth, not related to hypoparathyroidism, which is another common component of this disease.”

It is estimated that about one out of 80,000 Norwegians are affected by APS-1, but the number may be greater, since it is assumed that there are many unrecorded cases.

The results of the study were published online in the Immunity journal on 16 June in an article titled “Dominant mutations in the autoimmune regulator AIRE are associated with common organ-specific autoimmune diseases”.

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