A Case of Overlapping Autoimmune Syndrome

TL;DR

A rare case of overlapping autoimmune diseases in a patient with mixed connective tissue disease and anti-synthetase syndrome is reported, highlighting the importance of early diagnosis and tailored treatment.

Contribution

The paper presents a unique case of overlapping autoimmune conditions with distinct antibody profiles and treatment response.

Findings

A 44-year-old female showed features of both MCTD and ASS with initial antibody positivity.

Treatment with corticosteroids and mycophenolate mofetil led to temporary breathing improvement.

After treatment completion, the patient was anti-Jo-1 negative and anti-CCP positive.

Abstract

Overlapping autoimmune disorders are used to describe the coexistence of more than one autoimmune disease in the same patient. Mixed connective tissue disease (MCTD) and anti-synthetase syndrome (ASS) are autoimmune diseases that manifest with pulmonary involvement, presenting as persistent dyspnea. The coexistence of both conditions in the same patient is extremely rare. We herein report a case of a 44-year-old female who was diagnosed with MCTD with features of ASS (anti-Jo-1 antibody) in the setting of rheumatoid arthritis (anti-cyclic citrullinated peptide (anti-CCP) antibody), which shows temporary breathing improvement following treatment with corticosteroid and mycophenolate mofetil. However, after the completion of mycophenolate mofetil, she was found to be anti-Jo-1 antibody negative and anti-CCP antibody positive. Our case emphasizes the need to recognize overlapping autoimmune conditions in patients with complex clinical features and presentations with the immediate application of a comprehensive diagnostic approach and tailored treatment strategies. Early diagnosis and aggressive treatment are crucial for achieving remission and preventing organ damage.

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