ABSTRACT
Introduction: The severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2) is the causative agent of the coronavirus disease 2019 (COVID-19). Its rapid spreading all over the world has caused a pandemia that has a deleterious impact on public health worldwide. The COVID-19 is associated with cytokines dysregulation, increased IL-1β tumor necrosis factor (TNF) and IL-6 release with hyperinflammation and risk of cytokine storm syndrome. Autoinflammatory diseases (AID) are rare, potentially life-threatening conditions caused by pathogenic gene variants encoding for inflammasomes leading to excessive production of pro-inflammatory cytokines. The innate immune system that plays a critical role in the pathogenesis of Familiar Mediterranean Fever (FMF) is also essential in antiviral defense. Colchicine is the main drug therapy for FMF and fulfills its role with the inhibition of microtubule polymerization and pyrin inflammasome. Colchicine effects on COVID-19 have not yet been evaluated in trials, but some studies on COVID-19 patients under colchicine treatment for FMF arouse interest. Anti-SARS-COV-2 vaccination is of key role for COVID-19 eradication worldwide, few data are available for AID patients. Objectives: This study aims to describe the COVID-19 impact on patients under regular treatment for AID and their outcome after anti- SARS-COV-2 vaccination. Methods: An observational monocentric study has been conduct on a cohort of Italian AID patients who were under regular follow up for their disorders. Data have been collected both retrospectively and prospectively. Results: Seventy-eight adult AID patients (65 FMF, 5 PFAPA, 3 FCAS, 2 TRAPS, 2 Behcet Disease, 1 SAPHO,) followed at Center for Primary Immunodeficiency and Autoinflammatory disorders have been considered. Among FMF patients, eight communicated to the center when they got COVID-19 and were followed by regular phone calls. The mean age was 36.9 years, (range 27-60) and they had no other comorbidities. All the patients were on regular colchicine therapy and were on complete remission before COVID-19. They were started with azithromycin (with precaution for colchicine interference) and four were treated also with low-weight heparin prophylaxis. None of the patients need oxygen or hospitalization. Two sisters (MEFV genotype M694V/V726A) had FMF attack relapsing during COVID-19 disease, despite regular colchicine therapy. All the cases recovered from COVID-19 without complications. None of the other AID patients declared to have COVID-19, and all the swabs, that they did when they had symptoms suspected for, were negative. Genetics of FMF patients' with COVID-19 - 2 M694V/V726A - 2 M694V Pediatric Rheumatology 2021, 19(Suppl 1):155 Page 205 of 229 - 1 M694V/M694V - 1 M680IGC/E148Q - 1 R761H/E148Q - 1 -/- Till now 31 AID patients have been vaccinated (22 FMF, 4 PFAPA, 3 FCAS, 2 Behcet disease). No adverse reactions were observed. All the patients who had COVID-19 have been vaccinated (Pfizer/ Biontech or Moderna), two had FMF attack. Two patients with PFAPA had a mild attack. Post-vaccination titre was checked after 4 week since 2nd dose for those patients who were under anti-IL inhibitors (n=5) or anti-TNF (n=1). Conclusion: In this study, the FMF patients who had COVID-19 under chronic colchicine treatment had a mild/moderate disease and recovered without consequences. According to other studies, FMF under colchicine treatment seems not to be a risk factor for severe COVID-19 and colchicine anti-inflammatory effect worths to be considered for treatment in COVID-19. Anti-SARS-COV-2 vaccination in AID patients of this study has been observed to be safe and effective.