What is the diagnosis for a patient with recurrent anterior uveitis and positive Antinuclear Antibody (ANA) and Centromere antibody?

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Differential Diagnosis for Recurrent Anterior Uveitis with Positive ANA and Centromere Antibody

  • Single Most Likely Diagnosis
    • Limited Systemic Sclerosis (lSSc): This condition is characterized by the presence of centromere antibodies and can manifest with recurrent anterior uveitis. The positive ANA further supports an autoimmune etiology, which is consistent with lSSc.
  • Other Likely Diagnoses
    • Systemic Lupus Erythematosus (SLE): Although SLE is more commonly associated with a positive ANA, the presence of recurrent anterior uveitis and centromere antibodies could suggest an overlap syndrome or a variant of SLE.
    • Mixed Connective Tissue Disease (MCTD): MCTD can present with features of multiple autoimmune diseases, including lupus and scleroderma, and may be associated with both ANA and centromere antibodies.
  • Do Not Miss Diagnoses
    • Sjögren's Syndrome: This autoimmune disorder can cause uveitis and is often associated with positive ANA. Although less commonly linked with centromere antibodies, it's crucial to consider due to its potential for significant morbidity if left untreated.
    • Rheumatoid Arthritis (RA): While RA is more commonly associated with seropositive status (RF and anti-CCP antibodies), some patients may have positive ANA, and the disease can rarely cause uveitis. The presence of centromere antibodies is less typical but does not rule out RA entirely.
  • Rare Diagnoses
    • Undifferentiated Connective Tissue Disease (UCTD): This diagnosis is considered when patients have features of autoimmune disease (such as positive ANA) but do not meet full criteria for a specific disease like SLE, SSc, or MCTD. UCTD can occasionally present with uveitis.
    • Overlap Syndrome: This refers to conditions where features of two or more distinct autoimmune diseases coexist. The combination of positive ANA and centromere antibodies with recurrent anterior uveitis could suggest an overlap syndrome involving scleroderma and another autoimmune disease.

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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