Review
Copyright ©The Author(s) 2015. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Diabetes. Feb 15, 2015; 6(1): 67-79
Published online Feb 15, 2015. doi: 10.4239/wjd.v6.i1.67
Type 1 diabetes and polyglandular autoimmune syndrome: A review
Martin P Hansen, Nina Matheis, George J Kahaly
Martin P Hansen, Nina Matheis, George J Kahaly, Department of Medicine I, Johannes Gutenberg University Medical Center, 55131 Mainz, Germany
Author contributions: Hansen MP and Kahaly GJ conceived and designed the study; Hansen MP, Matheis N and Kahaly GJ acquired, analyzed and interpreted the data; Hansen MP and Kahaly GJ drafted the manuscript; Matheis N and Kahaly GJ revised the manuscript; all authors read and approved the final version of the manuscript.
Conflict-of-interest: The corresponding author has nothing to disclose.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: George J Kahaly, MD, PhD, Department of Medicine I, Johannes Gutenberg University Medical Center, Langenbeckstreet 1, 55131 Mainz, Germany. kahaly@ukmainz.de
Telephone: +49-6131-172290 Fax: +49-6131-173460
Received: July 14, 2014
Peer-review started: July 15, 2014
First decision: September 16, 2014
Revised: November 11, 2014
Accepted: November 27, 2014
Article in press: December 1, 2014
Published online: February 15, 2015
Processing time: 200 Days and 20.5 Hours
Abstract

Type 1 diabetes (T1D) is an autoimmune disorder caused by inflammatory destruction of the pancreatic tissue. The etiopathogenesis and characteristics of the pathologic process of pancreatic destruction are well described. In addition, the putative susceptibility genes for T1D as a monoglandular disease and the relation to polyglandular autoimmune syndrome (PAS) have also been well explored. The incidence of T1D has steadily increased in most parts of the world, especially in industrialized nations. T1D is frequently associated with autoimmune endocrine and non-endocrine diseases and patients with T1D are at a higher risk for developing several glandular autoimmune diseases. Familial clustering is observed, which suggests that there is a genetic predisposition. Various hypotheses pertaining to viral- and bacterial-induced pancreatic autoimmunity have been proposed, however a definitive delineation of the autoimmune pathomechanism is still lacking. In patients with PAS, pancreatic and endocrine autoantigens either colocalize on one antigen-presenting cell or are expressed on two/various target cells sharing a common amino acid, which facilitates binding to and activation of T cells. The most prevalent PAS phenotype is the adult type 3 variant or PAS type III, which encompasses T1D and autoimmune thyroid disease. This review discusses the findings of recent studies showing noticeable differences in the genetic background and clinical phenotype of T1D either as an isolated autoimmune endocrinopathy or within the scope of polyglandular autoimmune syndrome.

Keywords: Autoimmune thyroid disease; Polyglandular autoimmune syndrome; Addison’s disease; Susceptibility genes; Type 1 diabetes

Core tip: Type 1 diabetes (T1D) occurs in conjunction with several autoimmune endocrine and non-endocrine diseases. Recent studies have revealed noticeable differences in the genetic background and clinical phenotype of T1D either as an isolated autoimmune endocrinopathy or within the scope of polyglandular autoimmune syndrome. These findings are relevant for diagnostic and therapeutic procedures in daily practice as well as for the general understanding of endocrine autoimmunity.