Women with endometriosis have a significantly higher risk of developing autoimmune and autoinflammatory diseases, a study shows.
Conditions such as osteoarthritis, rheumatoid arthritis, multiple sclerosis, coeliac disease and psoriasis are among the comorbid conditions significantly linked to endometriosis.
For the first time, researchers at the University of Oxford identified a genetic correlation between endometriosis and many of these diseases, suggesting a shared genetic basis may explain the increased risk.
The findings are published in the journal Human Reproduction and examine both the clinical associations and the biological mechanisms that can drive these comorbidities.
The study, funded by the charity Wellbeing of Women UK, analyses data from 8,223 women with endometriosis and over 64,000 with immune-related disease from the UK Biobank. This data enabled the researchers to examine the link between endometriosis and 31 different autoimmune diseases and investigate a possible biological basis for the increased comorbidity across immunological conditions. The autoimmune diseases analysed included 17 classical autoimmune, 10 autoinflammatory and four mixed-pattern diseases.
The researchers analysed retrospective data to determine whether endometriosis was more commonly experienced before or after a coexisting autoimmune disease. They conducted a cross-sectional analysis to uncover common associations between conditions and also conducted genome-wide association studies (GWAS) and used Mendelian randomisation methods to explore shared genetic factors and potential causal links.
Risk of developing immune-related conditions
The results showed women with endometriosis had a 30-80% higher risk of developing immune-related conditions, particularly autoimmune diseases like rheumatoid arthritis, multiple sclerosis, and coeliac disease, and autoinflammatory conditions such as osteoarthritis and psoriasis.
The researchers discovered a strong genetic correlation between endometriosis and both osteoarthritis and rheumatoid arthritis, and to a lesser extent, with multiple sclerosis.
The study is the first to provide genetic evidence suggesting a potential causal relationship between endometriosis and rheumatoid arthritis, indicating that the existence of one condition may contribute to the development of the other.
Professor Krina Zondervan, head of the Nuffield Department of Women’s and Reproductive Health at John Radcliffe Hospital, University of Oxford, and joint senior author, said: ‘Very large studies integrating clinical and genetic information, such as conducted here, are able to provide valuable new insights into disease biology. In this case, we have provided solid evidence of a link between endometriosis and subsequent risk of diseases such as osteoarthritis and rheumatoid arthritis, and we have shown this has a biological basis.’
Leverage new treatment avenues
It is hoped that this new information can be leveraged to look for new treatment avenues that may work across all of these conditions. The findings highlight the importance of long-term monitoring of immunological comorbidities, including conditions such as fatigue, joint pain, psoriasis and gastrointestinal issues, as well as understanding the links between such conditions and endometriosis.
Janet Lindsay, CEO of Wellbeing of Women, added: ‘This research is an important step towards building a more accurate understanding of endometriosis, a condition that affects one in 10 women globally. For too long, there has been too little investment in research into women’s health issues like endometriosis. The findings show a link between endometriosis and autoimmune diseases that could pave the way towards faster diagnosis and more personalised treatments.’
The research team said further studies focusing on biomarker identification, clinical trials and targeted treatment options will be critical in moving from understanding the genetic and phenotypic associations to actionable healthcare solutions.
A version of this article was originally published by our sister publication Nursing in Practice.
