Endometriosis is a condition that affects 10%–15% of women of childbearing age, in which elements of the endometrium develop outside of the uterus, causing chronic progressive pelvic pain and infertility. Women also have a four times higher risk of developing autoimmune diseases than men. A recent publication by Nina Shigesi and colleagues from the University of Oxford identified a relationship between endometriosis and autoimmune disease in women.
The study analysed the relationship between endometriosis and autoimmune diseases on both a phenotypic (disease presentation) and genotypic (genetic) level. The phenotypic study was separated into a retrospective cohort and a cross-sectional study. The retrospective cohort sought to determine whether women who had been diagnosed with endometriosis later developed autoimmune disease, and the cross-sectional study investigated whether any women developed both autoimmune disease and endometriosis, regardless of the order of diagnosis.
The retrospective cohort study revealed that of the 22 autoimmune diseases that were investigated, nine diseases were correlated with endometriosis. These were categorised as classic autoimmune diseases (multiple sclerosis [MS], rheumatoid arthritis [RA], celiac disease, and type 1 diabetes [T1DM]), autoinflammatory diseases (ulcerative colitis [UC], inflammatory bowel disease [IBD], and osteoarthritis), and mixed pattern diseases (ankylosing spondylitis and psoriasis). Of these, a significant correlation was found between endometriosis and RA, celiac disease, osteoarthritis, and psoriasis (with odds ratios of 1.22, 1.35, 1.35, and 1.67, respectively). The cross-sectional study corroborated the correlations between endometriosis and RA, celiac disease, and osteoarthritis.
Through the phenotypic studies, researchers also discovered that endometriosis increased a patient’s risk of developing multiple autoimmune diseases. When compared to women without endometriosis, women with endometriosis had a 14% higher risk of developing a single autoimmune disease. This rose to a 21% higher risk of having two autoimmune diseases, and increased further to a 30% higher risk of having three autoimmune diseases in their lifetime.
The genotypic study focused on the autoimmune diseases that were correlated with endometriosis in the phenotypic study. This study is the first genome-wide association study (GWAS) using UK Biobank data from only women. Genetic correlations were found between endometriosis and osteoarthritis, RA, and MS, suggesting that there may be a common genetic pathway between endometriosis and these diseases. Additionally, researchers identified a possible causal relationship between endometriosis and RA, meaning that endometriosis may cause RA to develop due to genetic factors.
GlobalData epidemiologists forecast that there will be 345,000 diagnosed prevalent cases of endometriosis in the UK in 2025, although this may vary as a diagnosis can occur 4–11 years after symptom onset. Endometriosis is diagnosed with a combination of surgery and histology. The results of this study emphasise the importance of both the diagnosis of endometriosis and the awareness of the comorbidities other than pelvic pain to improve health outcomes.
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