Systemic Autoimmune Diseases (MAS) represent a heterogeneous group of diseases that have in common, pathogenetically, a profound disorder of the Immune System.
MAS are represented by: Systemic Lupus Erythematosus (SLE), Rheumatoid Arthritis (RA), Sjogren's Syndrome (SS), Systemic Sclerosis (ScS), Undifferentiated Connectivitis, Mixed Connectivitis, Inflammatory Myositis, Anti-Phospholipid Antibody Syndrome, but also Systemic Vasculitides such as Giant Cell Arteritis (formerly Horton's Arteritis), Takayasu's Arteritis, Granulomatosis with Polyangiitis (formerly Wegener's Granulomatosis), Eosinophilic Granulomatosis with Polyangiitis (formerly Churg Strauss Syndrome), and Behcet's Syndrome.
The importance of MAS derives both from their ability to affect multiple organs and systems and from the observation that these diseases predominantly affect the female gender and young age. I will focus, for the sake of brevity, only on two autoimmune diseases, such as SLE and Sjogren's syndrome.
The prototypical autoimmune disease is SLE, which affects with great prevalence young women of childbearing age. It presents with arthralgias/arthritis, fever, asthenia, characteristic skin manifestations with varying extent and localization, indolent lesions in the oral cavity, but also with visceral localizations, such as heart and lungs and their respective serosae (pericardium and pleura), Central Nervous System, but especially the kidneys. Nephritis of varying severity can develop at this level. In the most severe forms, this localization requires fairly aggressive therapy, which in the vast majority of cases succeeds in extinguishing the inflammatory process, but unfortunately must be continued for a long time, albeit with progressively lower dosages. The diagnosis of such disease is based both on the clinic, which remains the cornerstone of any diagnostic procedure, and on the careful search for specific autoantibodies (antibodies directed against components of one's own tissues), known as antinuclear antibodies (ANA), but also anti ENA (extractable nuclear antigens) and anti-DNA antibodies. The degree of positivity (titer), pattern (appearance under a fluorescence microscope), and individual specificities within anti ENA antibodies, are in the hands of the immunologist, of great help in the diagnosis of disease and also the variant of it.
Another disease that is quite frequent, but appears at a later age than SLE, is Sjogren's Syndrome, which presents with dryness of the eyes (xerophthalmia) generally felt as a sense of sand in the eye, dryness of the mouth (xerostomia), salivary gland swelling, arthralgia/arthritis, and possible lung and kidney involvement. It should be noted that the prognosis of all the diseases listed has profoundly improved with the introduction of new and powerful immunosuppressants, but especially biologic drugs, which are capable of specifically blocking individual molecules responsible for the inflammatory process underlying each of these diseases.
