P-347: From screening to stage 1: redefining autoimmune diabetes in a high-risk population

Introduction

Type 1 diabetes (DM 1) progresses through three stages, defined according to the presence of autoantibodies and/or clinical manifestations. Down syndrome confers an increased risk of DM 1, although there is currently no consensus regarding systematic screening. Early detection during the initial stages allows for the implementation of anticipatory education strategies, reduces the risk of presenting diabetic ketoacidosis at disease onset, and enables consideration of therapeutic interventions that may delay disease progression.

Objectives

Describe a case of autoinmune diabetes identified at Stage 1 and discuss how early detection redefines diagnosis and managment

Methods

Descriptive clinical case report

Results

We present the case of a 14-year-old male patient diagnosed with presymptomatic stage 1 of DM1, with a history of trisomy 21 associated with autoimmune comorbidities: mixed autoimmune thyroid and celiac disease. Traditionally, DM1 is diagnosed at advanced stages, when patients present with characteristic clinical symptoms. However, it is now recognized that the disease progresses through three well-defined stages. Stage 1 is a presymptomatic phase characterized by the presence of two or more pancreatic beta-cell autoantibodies, normal glucose levels, and absence of symptoms. Stage 2 involves asymptomatic metabolic abnormalities, while stage 3 corresponds to clinically overt diabetes

In the present case, elevated anti-GAD antibody levels (178 U/mL) were identified, whereas the remainder of the immunological panel was negative: insulin autoantibodies were within the normal range, and anti-ZnT8 and anti-ICA512 antibodies were negative. C-peptide levels were within the normal range.

Conclusions

This case report highlights the importance of screening high-risk populations. Early identification enables optimized metabolic follow-up, prevention of acute complications, and reduction of the overall disease burden, contributing to a more proactive and personalized approach to the management of type 1 diabetes.