Why does it take so long for rare disease patients to get an accurate diagnosis?—A qualitative investigation of patient experiences of hereditary angioedema

INTRODUCTION: Many patients with rare diseases experience a diagnostic delay. Although several quantitative studies have been reported, few studies have used a qualitative approach to directly examine how patients with rare disease obtain a diagnosis and why it takes many years. In this study, we focused on hereditary angioedema (HAE), which has been reported to have long diagnostic delays, despite the knowledge that not having an accurate diagnosis can cause life-threatening problems. OBJECTIVE: The objective of this study was to analyze patients’ experiences and elucidate why it takes a long time to reach a diagnosis of HAE. We also aimed to propose possible solutions for the problem. METHODS: A qualitative study using semi-structured interviews was conducted. Nine patients who took over 5 years from the presentation of initial symptoms to an HAE diagnosis participated. The contents of the interviews were subjected to an inductive contents analysis. RESULTS: By analyzing the patients’ struggles that were experienced during the undiagnosed period, three themes were generated: (1) acceptance and resignation towards their conditions, (2) proactive search for a cause, and (3) independent efforts outside of the hospital. While a few patients continued to seek out a diagnosis during the undiagnosed period, many had become accustomed to their health condition without suspecting a rare disease. CONCLUSIONS: We found that one of the most important factors related to the prolonged undiagnosed period is the lack of suspicion of a rare disease by patients and their medical professionals. While current policies tend to focus on the period from suspecting rare diseases to the time of a clear diagnosis, our results strongly suggest that measures are needed to facilitate patients and clinicians to become aware of rare diseases.