Coeliac disease, a life-long autoimmune disease driven by dietary gluten, has a high prevalence in Finland. Nevertheless, the disease is still widely under-diagnosed.
Gastrointestinal symptoms solely were regarded typical for coeliac disease for long.
However, the clinical picture of the disease has changed over time and nowadays milder, usually extra-intestinal symptoms are the most common manifestations of the disease. Moreover, seemingly asymptomatic patients exist. Indeed, the variation in clinical picture is a major challenge in the coeliac disease diagnosis since the type, severity and duration of symptoms vary from patient to patient. The reason for this remains unknown.
When coeliac disease heredity is concerned, HLA-DQ2.5 is the best-known genetic component and it is found in over 90 per cent of patients. However, numerous loci outside the HLA region have been associated with the disease.
In her dissertation, Laura Airaksinen investigated whether there are genetic and/or phenotypic differences between familial and sporadic coeliac disease and whether the dose of HLA-DQ2.5 and genetic variants outside the HLA region contribute to the clinical picture of the disease.
HLA-DQ2.5-negative patients present with classical phenotype and prevailing symptoms
“HLA-DQ2.5-negative coeliac disease patients were observed to present with classical phenotype at diagnosis as well as with prevailing symptoms after dietary treatment more often than patients positive for high-risk HLA-DQ2.5”, Airaksinen summarizes.
“We could also demonstrate that sporadic cases had more severe clinical phenotype at diagnosis as well as poorer overall health even after dietary treatment. Furthermore, four distinct variants in non-HLA regions were associated with increased risk for familial coeliac disease, but the associations need to be confirmed in the future.”
Familial incidence of coeliac disease and HLA-DQ2.5 as a major risk genotype for the disease are commonly known in public health care.
“The findings of this dissertation hopefully encourage physicians to remember that both HLA-DQ2.5-negative individuals and those, who do not have known affected family members may also have coeliac disease. Furthermore, if already diagnosed with coeliac disease, such people may possibly need a special attention in terms of follow-up.”
The doctoral dissertation of MSc Laura Airaksinen in the field of biomedicine titled Contribution of relatedness and genetic factors to the clinical picture of coeliac disease will be publicly examined at the Faculty of Medicine and Health Technology of Tampere University at 12 o’clock on Friday, 13 January, 2023. The venue is Arvo building auditorium F114, address: Arvo Ylpön katu 34. The Opponent will be Associate Professor Jernej Dolinšek from the University of Maribol, Slovenia. The Custos will be Professor Katri Lindfors from the Faculty of Medicine and Health Technology.
The doctoral dissertation is available online.
Photograph: Jonne Renvall