Endocrine Abstracts

One of the most important advances in type 1 diabetes (T1D) research has been the identification of a long incubation period, starting months to years prior to the appearance of disease symptoms and progressing in a complete asymptomatic way. This pre-symptomatic phase can be recognized by the detection in the blood of autoantibodies against multiple islet antigens, including GAD, insulin, IA-2 and ZnT8. In children and adolescents the detection of two or more among these autoantibodies is highly predictive of future clinical T1D, approaching nearly certainty within 10-15 years. The pre-symptomatic disease staging and risk estimate of further progression is based on the assessment of glucose status: Stage 1, associated with normoglycemia; Stage 2, associated with dysglycemia; Stage 3, associated with hyperglycemia and need to start insulin therapy (corresponding to clinical T1D). These stages have been recently assigned the ICD-10 codes E10.A1, E10.A2 and E10.9, respectively. Therefore, measurement of islet autoantibodies has been increasingly adopted as the basic tool for screening programs, implemented initially in families and other cohorts of genetically predisposed individuals, and then more and more in the general population of pediatric ages. The identification of T1D at an early pre-symptomatic stage has several clinical benefits: opportunity for education and monitoring of at risk individuals to support a smooth transition to clinical diabetes and insulin therapy; reduction of the incidence of diabetic ketoacidosis and minimization of clinical manifestations at onset; potential access to disease modifying treatments (e.g. Teplizumab) and clinical trials. Conversely, the impact of screening the general population for T1D need to be assessed for ethical, psychological, socioeconomic and financial aspects. Particularly, anxiety and distress related to screening have been reported in association with communication to families of significant risk of future T1D. The new and growing discipline of pre-symptomatic/early T1D needs in depth investigations and overarching approaches such as that accomplished by EDENT1FI, a large European consortium conducting: screening children from the general population; evaluating the associated psychological impact and providing support and education to families; implementing protocols for monitoring and follow up of at risk people; and proving information and opportunities for disease modifying therapies.