Nearly one in three women with autoimmune diseases waited at least four years for a diagnosis, survey finds

From unexplained symptoms to repeated medical appointments, a survey of more than 6,600 patients examines how sex and disease type relate to the long and often complicated journey towards an autoimmune diagnosis. 

Study: Sex and disease differences in patients’ diagnostic experiences in autoimmune diseases: an international cross-sectional study. Image Credit: Love Employee / Shutterstock

A recent international cross-sectional study published in the journal eClinicalMedicine examined patient-reported diagnostic experiences in autoimmune diseases, compared sex-based differences, and highlighted opportunities to improve the accuracy and equity of care, particularly regarding perceived misdiagnoses and delays.

Sex Disparities and Diagnostic Challenges in Autoimmune Diseases

Autoimmune diseases (ADs) are chronic, immune-driven conditions ranging from organ-specific to systemic disorders. Their early, nonspecific symptoms often lead to diagnostic uncertainty and delays, which can increase morbidity and mortality. Perceived misdiagnoses can also adversely affect mental health and trust in healthcare.

Autoimmune diseases exhibit a marked sex disparity, with females representing 70–80% of cases worldwide. This predominance is attributed to complex interactions between genetic, hormonal, and immunological factors, including the influence of sex hormones and X-linked genes on immune function. The female bias is particularly pronounced in systemic autoimmune rheumatic diseases, such as systemic lupus erythematosus and Sjögren’s syndrome, and in autoimmune thyroid disorders like Hashimoto’s thyroiditis.

Evidence indicates that females experience a greater burden of autoimmune disease, longer diagnostic intervals, and higher rates of symptom misattribution to psychological or functional causes compared to males. These disparities are evident in conditions such as systemic lupus erythematosus and ankylosing spondylitis. Yet most research to date has focused on single-disease cohorts, leaving sex differences across autoimmune diseases inadequately explored.

Comparing Diagnostic Experiences by Sex in Autoimmune Disease Patients

The survey, developed collaboratively with patients, charities, and clinicians, was distributed globally via Qualtrics from December 2024 to March 2025. Adults aged 18 or older reporting an autoimmune or inflammatory rheumatic disease confirmed in clinical correspondence were eligible to participate.

The researchers collected comprehensive demographic, clinical, and diagnostic data, including time to diagnosis, number of clinician visits, and perceived misdiagnoses, as well as mental health, psychosomatic, or other conditions. Sex was self-reported as male, female, or other; analyses focused on males and females because other groups were small. Each participant identified their primary autoimmune disease. The study forms part of a larger initiative investigating healthcare inequalities among individuals with autoimmune diseases.

To reduce bias, survey materials were neutrally worded, and diagnostic questions were embedded in a broader questionnaire. Recruitment aimed for at least 10% participation from minoritized ethnicities to improve representation.

Diagnostic delay was classified as short (<1 year), moderate (1–4 years), or long (≥4 years). Clinician visits were grouped as low (1–2), moderate (3–10), or high (≥11). Perceived misdiagnoses were recorded as binary responses; participants who were unsure or did not answer were excluded from those analyses. The researchers used 

Bayesian ordinal regression was used to model diagnostic timelines and consultation numbers by sex, and Bayesian logistic regression was used to examine perceived misdiagnoses. Firth's penalized logistic regression addressed small male samples in disease-specific analyses.

Sex Differences in Diagnosis and Misdiagnosis Patterns

Of the 6607 participants, 91.2% were female. Most participants were from the UK (69.7%) and identified as White (87.8%). Autoimmune thyroid disease was the most common primary autoimmune disease, affecting 22.9% of the cohort. The mean age was 53.8 years for females and 57.2 years for males. Anxiety was the most common non-autoimmune co-diagnosis in females, while hypertension was most common in males.

The misdiagnosis analyses included up to 3,697 respondents after excluding uncertain or missing answers. These reports were not independently verified. Females reported more perceived mental health misdiagnoses for autoimmune symptoms, with 43.3% compared to 32.7% in males. Psychosomatic misdiagnoses were also more common among females, at 33.9% versus 21.5% in males. 47.6% of males and 43.5% of females reported being misdiagnosed with another physical disease, a difference that was not statistically significant. Overall, misdiagnosis patterns differed by sex.

Misdiagnosis rates also varied considerably by disease group. Autoimmune encephalitis and undifferentiated connective tissue disease (UCTD) had the highest rates of perceived mental health and psychosomatic misdiagnoses, reported by more than half of respondents in those groups. Polymyalgia rheumatica (PMR), type 1 diabetes (T1D), and rheumatoid arthritis (RA) had the lowest rates, with fewer than one quarter reporting them. Misdiagnosis with another physical disease was most common in inflammatory bowel disease (IBD) and vasculitis, and least common in type 1 diabetes. The authors suggested that recognizable physical signs or clearer biomarkers might reduce misattribution, while nonspecific or neuropsychiatric symptoms could complicate early diagnosis.

After adjusting for disease group, females had significantly higher odds of reporting mental health and psychosomatic misdiagnoses compared to males. These associations remained after further adjusting for age, continent, and household financial situation. Age was not associated with either type of misdiagnosis. Disease group, continent, and lower financial status were also linked to higher odds of reported misdiagnosis.

Time to diagnosis also differed by sex. Males most often received a diagnosis within three months, while females most often received one within one to two years. Nearly half of males received a diagnosis within one year, compared to 40% of females. Females were more likely to report long diagnostic delays, with 32% waiting four years or longer compared with 26% of males. Moderate delays were similar for both groups.

Bayesian analysis produced consistent results, indicating a greater probability of shorter diagnostic intervals for males and longer delays for females, especially in the two to four and ten to twenty-year ranges.

The number of clinician visits before diagnosis was also associated with sex. At least 11 visits were reported by 26% of females, compared to 18% of males. Males were more common in the moderate consultation category, while no significant sex difference was observed among those reporting one or two visits.

Conclusions

The study findings suggest sex-related differences in patients’ reported diagnostic journeys for autoimmune diseases. Females more frequently reported perceived misdiagnoses, particularly mental health and psychosomatic conditions, and described longer diagnostic delays and higher consultation burdens compared to males.

The researchers cautioned that retrospective recall, self-selection into the survey, and the predominantly female, White and UK-based sample limit generalizability. The study could not determine whether the observed differences arose from biological factors, gender-related biases or both. These patterns support greater awareness of sex differences to improve diagnostic accuracy and reduce delays for all patients.