The Kaleidoscope of Polyautoimmunity: An Odyssey of Diagnostic Dilemmas

Cureus. 2024 Apr 8;16(4):e57799. doi: 10.7759/cureus.57799. eCollection 2024 Apr.

Abstract

Diagnostic accuracy is of the utmost importance, both in the clinical setting and for research purposes. Mixed connective tissue disease (MCTD), rheumatoid arthritis (RA), Sjogren's syndrome (SS), and overlap syndrome (OS) frequently exhibit symptoms that mimic those of other conditions. Unfortunately, there is no singular definitive test for diagnosing these connective tissue diseases (CTDs), necessitating the reliance on expert opinions. Further complicating the matter, these diseases have overlapping clinical and serological features, and some individuals with one autoimmune disease may develop additional autoimmune disorders, either concurrently or at a later stage of their ailment. Autoimmune diseases (ADs) may manifest as a single AD or, concurrently with other ADs, a condition named polyautoimmunity (polyA). Polyautoimmunity refers to the presence of numerous autoimmune disorders in a single patient. Multiple autoimmune syndrome (MAS) is a condition that occurs when three or more autoimmune illnesses coexist. Moreover, the coexistence of two or more ADs with classification criteria is named "overt polyA," whereas the presence of autoantibodies not related to the index AD, without criteria fulfillment, is termed "latent polyA." Furthermore, both conditions can exist simultaneously within an individual patient. This case report's findings underscore that patients exhibiting both latent and overt polyautoimmunity tend to group, exhibiting distinct clinical and immunological characteristics. Additionally, CTDs not only have overlapping features amongst their various subclasses but also tend to mimic other conditions due to an underlying chronic inflammatory state. This case study also attempts to highlight the diagnostic dilemmas faced in such situations.

Keywords: mixed connective tissue disease; overlap syndrome; polyautoimmunity; rheumatoid arthritis; sle.

Publication types

  • Case Reports