Biomarkers in Autoimmunity - BIOMA - Phase II

Autoimmune diseases (AIDs) comprise about 100 pathologies and affect 5-10% of the world's population, spanning all medical specialties. Given their severity and chronicity, the costs they generate are enormous. Their clinical management is often challenging, especially considering the comorbidity rates and multiple organ involvement at each stage of the disease (1). There are challenges for patients with IAS, such as timely and appropriate diagnosis and treatment. The importance of early diagnosis and initiation of treatment is key to minimising the complications that can occur as a result of IAE, such as internal organ damage, loss of physical mobility, as well as an increased likelihood of death. Therefore, early diagnosis is paramount (2).
Although IAS exhibit a spectrum of epidemiological features, pathology and clinical manifestations, three lines of evidence demonstrate that these diseases share similar immunogenetic mechanisms (autoimmune tautology). Firstly, clinical evidence highlights the co-occurrence of distinct IAS within an individual (polyautoimmunity) and within members of a nuclear family (familial autoimmunity). Secondly, the pathological mechanisms may be similar between them. Finally, genetic evidence shows that autoimmune phenotypes may be the result of pleiotropic effects of common genes.

Autoimmune disease, biomarker, second phase