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A rare autoimmune condition, previously seen primarily in East Asian women and girls, has surged among white men and women in Yorkshire during the COVID-19 pandemic, leading to the deaths of nine patients. Researchers from the University of Leeds and Leeds Teaching Hospitals NHS Trust have reported an unprecedented 60 cases of this condition, known as MDA5 autoimmunity, in a study published in The Lancet eBioMedicine.
Unprecedented Surge
The immune system disorder, which causes distinctive skin rashes, pneumonia, and interstitial lung disease—a severe and often fatal lung inflammation—was exceptionally uncommon in the UK before the pandemic. However, between 2020 and 2022, researchers observed a significant increase in cases among white men and women, a demographic not typically associated with the condition.
Understanding the Condition
MDA5 is a protein that helps detect RNA viruses like COVID-19 and triggers an immune response to fight off the virus. However, in some individuals, the immune system mistakenly attacks MDA5, leading to autoimmune diseases. The exact cause of this autoimmune response is not well understood, but exposure to the COVID-19 virus is believed to be a potential trigger.
Clinical Presentation
The study identified 60 patients who presented with symptoms such as shortness of breath, muscle pain, rashes, and Raynaud’s disease. These symptoms led to referrals to rheumatology specialists, who diagnosed all patients with MDA5 autoimmunity. Out of these patients, 41.7% developed interstitial lung disease, and despite receiving immunosuppressant treatment, eight patients with lung disease and one patient with sepsis died.
Data Analysis and Findings
The researchers collected and analyzed data on MDA5 autoimmunity cases from January 2018 to December 2022, alongside COVID-19 infection and vaccination data. Prior to 2020, only six cases were reported in 2018 and 2019. In contrast, 60 cases were reported during the pandemic: eight in 2020, 35 in 2021, and 17 in 2022. Patient ages ranged from 43 to 71 years, with the majority being female.
Vaccination and Infection Link
Of the 60 patients, 35 had been vaccinated against COVID-19, and 15 had previously tested positive for the virus. The study noted a strong correlation between the surge in cases and COVID-19 vaccination rates in Yorkshire, though nearly half of the patients were not vaccinated prior to testing positive for MDA5.
Collaborative Research Effort
The research was a collaborative effort involving Dr. Paula David and Dr. Gabriele DeMarco from the University of Leeds, and Dr. Khizer Iqbal from Leeds Teaching Hospitals NHS Trust, along with Dr. Pradipta Ghosh’s team at the University of California, San Diego. The team found higher levels of MDA5 protein in COVID-19 patients, linked to an abnormal immune response that could contribute to the autoimmune condition.
Call for Awareness and Further Research
Principal Investigator Professor Dennis McGonagle emphasized the importance of physicians recognizing the symptoms of MDA5 autoimmunity to ensure rapid diagnosis and treatment, potentially saving lives. “Lives could undoubtedly be saved but there is a great need for research to try and slow or stop the rapid lung progression that occurs in some patients,” he stated.
Dr. Paula David, first author of the paper, added, “We think that this large, unprecedented outbreak of MDA5 disease in Yorkshire will help advance the field to better appreciate the role between viruses and autoimmunity.”
The findings highlight the critical need for ongoing research into the links between viral infections like COVID-19 and autoimmune responses, to better understand and mitigate the impact of such conditions in the future.
