Endocrine Abstracts

Autoimmune Addison’s disease (AAD) is an endocrine disease resulting from the immune system’s destruction of hormone producing cells in the adrenal cortex. Diagnosis is frequently first established after a life-threatening adrenal crisis, often resulting in untimely fatalities. The disease is rare, more common in women than in men, and also affects children. AAD very frequently occurs with other autoimmune diseases, such as type 1 diabetes mellitus, autoimmune thyroid disease and/or premature ovarian failure. Based on a European network of patient registry and biobanks, a translational approach using genetics, immunology, clinical management, and epidemiology, the EurAdrenal project aims to unravel the pathogenesis and natural course of AAD, ultimately to improve diagnosis and treatment as well as to offer strategies for disease prevention.

Euradrenal aim to describe the natural course of the AAD with focus on factors limiting quality of life. To this end an Addison-specific quality-of-life questionnaire has been developed (ADDIQoL). Another major task is to identify and characterise the disease-causing genes, using the corresponding disease in a spontaneous dog model and a gene targeted mouse model. In parallel, the cellular and molecular mechanisms of autoimmunity directed at the adrenal cortex will be studied both in humans with ADD and in the genetic mouse model. Moreover, clinical studies are underway for early identification of patients at risk of developing Addison’s disease in order to intervene, and to study continuous subcutaneous infusion of hydrocortisone as an alternative treatment modality.

As an autoimmune model disease the results of the project could not only lead to the development of novel diagnostic and therapeutic interventions for Addison patients, but also increase our understanding of the pathogenesis of autoimmune diseases in general.