The Environmental Determinants of Islet Autoimmunity (ENDIA) study follows Australian children with a first-degree relative with type 1 diabetes (T1D) in a unique pregnancy-birth cohort. Primary outcome is the development of persistent islet autoimmunity. Of children who develop multiple islet autoantibodies in the first 5 years , 85% are predicted to progress to clinical T1D before adulthood1. We aimed to characterise the pattern of islet autoantibody seroconversion in ENDIA children.
Participants were followed prospectively 3 monthly during pregnancy and the first 2 years, and 6 monthly thereafter. Autoantibodies to insulin (IAA), GAD, IA-2 and ZnT8 were measured by radio-binding and ELISA assays.
By August 2022, 92 of 1256 (7%) children aged median 4.9 (IQR 3.7, 6.3) years had developed one or more persistent islet autoantibodies or T1D (Table 1). First appearing autoantibody was most commonly IAA in 56/92 (62%), alone or in combination, followed by ZnT8A alone in 25% and GADA alone in 13%.
Probability of progression to persistent islet autoimmunity within the first 2 years was 2% for IAA alone-first. HLA DR4/DQ8 was predominant in these children (24/38). First appearance of other autoantibodies alone reached similar probabilities after 4 years. Relative risk of development of persistent islet autoimmunity using father with T1D as reference, was ~three-fold with multiple first-degree relatives with T1D (HR = 2.8), similar with a sibling proband (HR= 0.9), and lowest with a mother proband (HR = 0.7). Twenty children progressed to T1D – one with mild ketoacidosis. IAA-first, alone or in combination, was the usual sequence (18/20).
In conclusion, the predominant pattern in at-risk young children is IAA-first peaking early in association with high risk HLA type and progression to T1D. Other autoantibodies peak later. Early life patterns of islet autoimmunity may implicate different endotypes, with different environmental drivers from pregnancy and post-natal life.