Coeliac disease and autoimmune disease—genetic overlap and screening

Abstract

Coeliac disease is a treatable, gluten-induced disease that often occurs concurrently with other autoimmune diseases. In genetic studies since 2007, a partial genetic overlap between these diseases has been revealed and further insights into the pathophysiology of coeliac disease and autoimmunity have been gained. However, genetic screening is not sensitive and specific enough to accurately predict disease development. The current method to diagnose individuals with coeliac disease is serological testing for the presence of autoantibodies whilst the patient is on a regular, gluten-containing diet, followed by gastroduodenoscopy with duodenal biopsy. Serological test results can also predict the probability of coeliac disease development, even if asymptomatic. In patients with autoimmune diseases known to occur alongside coeliac disease (particularly type 1 diabetes mellitus or thyroid disorders), disease screening-and subsequent treatment if coeliac disease is detected-could have beneficial effects on progression or potential complications of both diseases, owing to the effectiveness of gluten-free dietary interventions in coeliac disease. However, whether diagnosis of coeliac disease and subsequent dietary treatment can prevent autoimmune diseases is debated. In this Review, the genetic and immunological features of coeliac disease, overlap with other autoimmune diseases and implications for current screening strategies will be discussed.

Whole exome sequencing of a consanguineous family identifies the possible modifying effect of a globally rare AK5 allelic variant in celiac disease development among Saudi patients

“…In particular, both candidate gene and GWAS studies have enabled us to understand how genetic variations influence celiac disease risk among sporadic patients [37] [13]. However, these studies have not been able to identify a causative gene so far.…”

Seizures as a clinical manifestation in somatic autoimmune disorders

“…CD is an immune-mediated disease affecting the intestinal villi. CD has a strong genetic component, as most subjects with CD carry the HLA-DQ2 allele [72]. Neurological symptoms have been reported in about 10% of people with CD [73].…”

Detecting celiac disease in patients with Down syndrome

“…During each visit to a DS specialty clinic, participants were clinically assessed for CD according to the AAP guidelines for children and expert‐based consensus for adults. Symptoms assessed were protracted constipation, diarrhea, vomiting, nausea, stomach complaints, refractory behavioral issues, and autoimmune problems (the presence of a pre‐existing autoimmune disorder led to heightened suspicion for celiac disease) [Lundin and Wijmenga, ]. We ensured that patients being considered for screening were on a diet containing gluten in order to be of clinical significance and in accordance with guidelines.…”