It is said that it takes an average of 4 to 9 years for patients suffering from "intractable / rare diseases" that are difficult to diagnose, and it takes an average of XNUMX to XNUMX years to obtain a correct diagnosis. During that time, it has become a problem to visit many medical institutions and experience unnecessary tests and misdiagnosis.

 However, most of the studies on the experience of these patients are quantitative surveys such as the number of years of undiagnosed period and the number of medical institutions visited, and deeply analyze the actual problems of the patients and clarify them descriptively. Research has not been done enough.

 Based on the idea that it is necessary to understand the actual situation of the patient and consider appropriate measures, the Osaka University group is a patient with hereditary angioedema (HAE), which is one of the intractable and rare diseases. An interview survey was conducted with 9 people.As a qualitative study of the patient's experience, the content heard was analyzed using a technique called "content analysis."

 As a result of the analysis, the experience of difficulties in the undiagnosed stage was broadly divided into three themes: (XNUMX) getting used to the symptoms and giving up, (XNUMX) active investigation of the cause, and (XNUMX) an original attempt outside the hospital. In the theme of (XNUMX), patients suffer from symptoms and go to the hospital for treatment, but most of them eventually get used to the treatment at the hospital where their condition and clear diagnosis cannot be made, and give up the consultation. It was reported.

 In the themes of (XNUMX) and (XNUMX), the experience of active consultation by a small number of patients and the efforts for improving the symptoms independently were talked about, but as a whole, most of them suffer from intractable or rare diseases. It became clear that the patient would continue to suffer without doubting the possibility and not actively searching for a diagnosis.

 This study highlights the fact that one of the factors that contributes to the prolongation of the undiagnosed period is that patients and medical professionals "do not realize the possibility of intractable or rare diseases."It took an average of 1 years for the participants in this study from the initial onset of HAE symptoms to the confirmation of the diagnosis.In order to make an early diagnosis, it can be said that measures are needed for patients and medical professionals to suspect intractable and rare diseases at an early stage and take action.

Paper information:[PLOS ONE] Why does it take so long for rare disease patients to get an accurate diagnosis? – A qualitative investigation of patient experiences of hereditary angioedema

Osaka University

The "true value" of each person becomes the "evolution" of Osaka University.To a university that lives in the community and extends to the world

Osaka University is a research-based university with 11 faculties and 23 departments. Since its founding in 1931, with the motto of "living in the region and extending to the world," we have created an outstanding "foundation" and "power" that weaves advanced education and research capabilities, the harmony of faculty and staff, and the weight of tradition and the advantage of Osaka. I have.Taking advantage of these excellent potentials […]

University Journal Online Editorial Department

This is the online editorial department of the university journal.
Articles are written by editorial staff who have a high level of knowledge and interest in universities and education.