D1.425 - Familial Cold Autoinflammatory Syndrome Post COVID-19 Vaccine: A Case Report

Background: Familial cold autoinflammatory syndrome (FCAS) is a rare disorder categorized under cryopyrin-associated periodic syndromes (CAPS), characterized by recurrent fever, rash, and joint pain exacerbated by cold. CAPS involves inflammasome formation through cryopyrin, activating interleukin-1 (IL-1). Mutations in NLRP3, coding for cryopyrin, lead to excessive IL-1 production, causing diverse autoinflammatory syndromes. Notably, COVID-19 has been implicated in cytokine production dysregulation, potentially exacerbating these conditions. This case report consolidates evidence from recent publications that revealed a link between the COVID-19 vaccines and the recurrence or new onset of different autoimmune and autoinflammatory diseases.

Case Presentation: Our case involves a 20-year-old previously healthy female presenting with angioedema, recurrent joints pain in the hands, elbows, and ankles, and a targetoid skin rash, two weeks after receiving a COVID-19 vaccine. Symptoms resolved spontaneously over a few hours. Comprehensive evaluation, including negative autoimmune panel and C1 esterase profile. The whole exome sequencing confirmed an NLRP3 mutation, diagnosing FCAS. The patient started on Anakinra, an IL-1 receptor antagonist, resulting in significant improvement.

Results & Discussion: SARS-CoV-2 infection led to the pathological activation of various cytokines, such as IL-1. This can aggravate existing or uncover latent autoinflammatory diseases. While the COVID-19 vaccine's connection to immune dysregulation remains unclear, it may stimulate autoantibody production or disrupt immune self-tolerance.Conclusion: We reported one of the first cases "to our knowledge" of a new onset of Familial cold autoinflammatory syndrome post-COVID-19 vaccine as a subsequent of autoimmune or autoinflammatory syndromes post-COVID-19 vaccines (mRNA vaccines).

Declarations: This case report was conducted after completing informed consent of the patient. The ethical approval to conduct the study and publish it was obtained from the office of research affairs at KFSH & RC-Riyadh. The data was kept confidential and in privacy during and after the study.Consent for publication was obtained from the patient. Competing interests: The authors declare that they have no competing interests

Funding:No funding was obtained.

Authors' contributions:SA, KA wrote the first draft. SS revised the first draft. All the co-authors revised and approved the final manuscript.

Acknowledgments: None.