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Exploring disease perception in Behçet’s syndrome: combining a quantitative and a qualitative study based on a narrative medicine approach
Orphanet Journal of Rare Diseases volume 18, Article number: 58 (2023)
Behçet Syndrome (BS) has a significant psychological and social impact on patients, caregivers and families. The present study aims at exploring disease perception in BS patients, using both a co-designed survey and the narrative medicine (NM) approach.
An ad-hoc questionnaire was co-designed by clinicians expert in BS, BS patients and caregivers and BS adult patients were invited to answer the online questionnaires. Cluster analysis was used to analyse data from the survey and to identify groups of patients with diverse disease perception. To further explore real-life perspectives, the stories of illness of a smaller group of adult BS patients were anonymously collected online and analysed by means of text, sentiment and qualitative analysis.
Two hundred and seven patients answered the survey and forty-three stories were collected. The cluster analysis highlighted that accepting or not the disease has a strong impact on the daily life, on how BS patients perceive themselves and in terms of hope for the future. The stories revealed that patients often address common issues, such as the long and complex journey faced from the disease onset until the BS diagnosis, which was strongly connected to the concept of time and perceived as an exhausting period of their lives.
To our knowledge, this is the first study that addressed disease perception also applying the NM principles in BS. The current perception that BS patients have of their disease should encourage the BS scientific and patient community in joining forces in order to improve the journey of BS patients.
Behçet syndrome (BS) is a rare, chronic and multisystemic disorder affecting mucosa, skin, joints, eyes, nervous and gastrointestinal system. The multi-organ involvement and the wide range of clinical spectrum make often the management of BS challenging; moreover, the relapsing course of the disease can determine exacerbations and remission of symptoms over time .
Various demographic factors, such as age at disease onset, duration of disease or gender, are considered predictive of poor outcomes in the short and long-term. In fact, younger male patients have a more severe disease, leading to increased morbidity and mortality .
BS has a significant psychological and social impact on the patients, on their caregivers and families. In routine clinical practice, BS patients frequently describe to have experienced several emotions such as fear, anxiety, stress, depression and anger because of the difficulty to adapt their lives to the disease, as well as uncertainty about their future [3,4,5,6]. Furthermore, patients sometimes highlight the difficulty to socialise due to their symptoms and in several cases, they refer that the disease negatively impacts on their familiar relationships [7, 8].
Studies exploring the experience and the patients' perception in BS are few; literature data are mainly focused on Quality of Life (QoL) in terms of depression, anxiety and sleep quality, while less data are available on the qualitative evaluation of QoL. The qualitative assessment of the patient’s perception of the disease, however, is very important to have a holistic approach to the disease and support patient centered therapeutic and management decisions. From a qualitative study performed in New Zealand exploring the experience and the challenges of a small group of patients living with BS, some important challenges emerged such as the difficulty to obtain a correct and timely diagnosis, loneliness and isolation due to the rarity and the difficulty to interact with the healthcare system .
Therefore, the present study is aimed at exploring disease perception among a large community of Italian BS patients, by means of a co-designed survey and applying the narrative medicine (NM) approach [10,11,12] collecting stories of BS patients.
The main objectives of the study were: (i) to evaluate disease perception in a large community of BS adult patient; (ii) to identify eventual clusters of BS patients with different perception of disease; (iii) to explore areas affecting disease perception that are not captured with conventional assessment, through patients’ stories collected using the NM approach.
Study design and population
A cross-sectional study was conducted to investigate disease perception among adult Italian BS patients. In detail, two different approaches were used. On a large community of Italian BS patients, disease perception was assessed by means of an ad-hoc questionnaire developed in co-design with patients and caregivers, clinicians and other experts; the general aim was to investigate the dimensions of quality of life and disease perception in BS.
A smaller group of BS patients provided insights into disease perception using the NM approach in a separate form. Participation to the questionnaire was voluntary and anonymous and they were asked for their consent to analyse their answers for research purpose (a specific approval was asked in the introduction text of the survey). For anonymous surveys only notification of the Ethical Committee of the University of Pisa is needed, which deemed formal IRB approval unnecessary.
An ad-hoc questionnaire was co-designed in Italian by clinicians expert in the management of BS, health economists, patients’ representative and caregivers in collaboration with the Italian Association for Behçet Disease (SIMBA OdV) . The questionnaire was implemented online using EUSurvey  and promoted among Italian BS patients trough different dissemination channels with the support of SIMBA OdV that contributed to the dissemination of the survey (i.e., website, Social media, etc.). Participation to the questionnaire was voluntary and data were collected from July 2019 to October 2019-point Likert-scale questions and were explored asking patients about the impact of the disease on different aspects of their life (i.e., work, family, social relations, etc.).
In order to further explore real-life perspectives of BS patients, the NM approach was adopted and the stories of illness of BS patients were anonymously collected online from September 2019 to December 2019. In details, a semi-structured questionnaire was developed to capture the demographic profile of the respondents (Table 1), while a wider section was dedicated to guide patients in telling their stories (e.g. “How did you feel when you were diagnosed with BS?”, “Did you experience issues in informing your employer about your disease?”, “Do you feel at the centre of your care? Which are your needs and expectations for the future?”), for which 3600 characters were available.
Data collected with the survey were first analysed using standard descriptive statistics, considering mean and standard deviation to describe quantitative variables and frequency for categorical variables. A cluster analysis was performed to identify possible subgroups of the overall study population based on the variables related to disease perception collected through the survey and using an approach specifically dedicated to the analysis of mixed continuous and categorical data. In particular, the method adopted is based on the application of the partitive k-medoid method, which consists of iteratively grouping the most similar units. Given the nature of the variables, the method was applied to the matrix of dissimilarity between the calculated variables using Gower's distance. The optimal number of clusters was determined on the basis of the Silhouette index.
A descriptive analysis of variables used in the cluster analysis and the main socio-demographics characteristics of patients grouped into the different cluster identified was performed in order to explore differences between clusters not only in terms of variables contributing to cluster identification, the Fisher exact test and the Chi-square test were used to assess differences among clusters.
Before performing the analysis of patients’ stories with dedicated software, pre-processing and cleaning of the texts (i.e., removing punctuation, converting all text to lowercase, removing unnecessary terms such as articles) as well as tokenization of the words by breaking up the texts into discrete words were performed. In order to explore the main words used and the concepts expressed in the stories, a word frequency analysis was also completed, and results were presented through a word cloud image. In addition, a sentiment analysis was also performed using the get_nrc_sentiment function implemented in the syuzhet R package , emotions expressed within stories collected were identified and scored according to Saif Mohammad’s National Research Council (NRC) Emotion lexicon . Basically, the NRC associates the retrieved text words with eight emotions: anger, fear, anticipation, trust, surprise, sadness, joy, and disgust. Total score for each emotions detected was reported. All analyses were performed using R version 3.6.2 and p value < 0.05 was considered statistically significant. Considering the narrative nature of the stories, a further deep qualitative analysis was performed by experts in narrative medicine with the aim of identifying the emergent topics (both needs and experiences) and to explore the most personal and specific characteristics related to living with BS.
Analysis of data from the survey
A total of 207 patients participated in the survey and the main characteristics of participants are detailed in Table 1. Patients answering the survey were mainly female (67.15%) and the majority of them were aged between 31 and 50 years (66.18%). About 63% of patients were employed and about 66% also declared they had the need to change their working life due to BS.
With respect to the disease, time since diagnosis was largely variable while almost all patients experienced the first symptoms before 40 years of age.
Table 2 details results related to the questions specifically related to disease perception and QoL.
Globally, answers to questions related to disease perception and QoL showed some degree of variability, while it emerged that most patients reported some concerns with respect to their health status and the impact of BS on their life. In details, 76% (n = 158) of patients declared to feel guilty towards people close to them because of their health condition “Sometimes” to “Always”, with the same frequency, 81% (n = 167) of patients experiencing apprehension, concern or fear for their health.
The fact that BS can be very unpredictable is perceived almost unanimously among the study population and 90% (n = 187) felt the unpredictability of BS “Sometimes” to “Always”; moreover, 49% (n = 102) felt they can’t do anything to improve their symptoms.
BS was perceived to substantially affect how patients perceive themselves (n = 174, 84%) and that the disease has changed them (n = 163, 79%); the disease was reported to have an impact on the life of the patients, determining moderate to significant economic consequences in about 73% (n = 151) responders and also determining an impact on their family (n = 166, 80%).
Results from the cluster analysis, performed to identify groups of patients reporting diverse feelings with respect to disease perception, revealed the presence of three different groups with different attitudes towards disease perception but also characterized by some heterogeneity with respect to socio-demographics characteristics.
Details of the three groups identified are reported in Table 3 and a graphical representation of the cluster identified on a bi-dimensional plane is reported as Additional file 1: Fig. S1.
Cluster 1 grouped mainly young (< = 40 years) women and 80% of them had the first symptoms before 31 years; about 50% had a degree or higher level of education; the majority was convinced that therapy is able to control disease; a variable percentage felt guilty towards people close to them because of their health condition; the majority rarely or never felt lonely because of rarity of their disease; about 40% had a caregiver; the majority perceive the unpredictability of their disease often/always; more than 50% never felt ashamed of their illness; about 60% felt that their illness had an impact on their family; about 80% knew other people suffering from BS and were in contact with of the association (or used their service).
Cluster 2 comprised mainly men and women older than 40 years; more than 80% had first symptoms between 11 and 50 years; more than 50% had diagnosis in the last 5 years; the majority was neutral or not really convinced that therapy is able to control the disease. More than 60% of them felt “sometimes” or “often” concerned or fear about their health; the minority had a caregiver; more than 50% never felt that they were able to do something to improve their symptoms. In addition, more than 50% of them never felt ashamed of their illness; the majority thought their illness will get worse over time; more than 50% had family members frequently worried about their health; about 60% didn’t know other people suffering from BS.
Patients grouped in Cluster 3 were aged mainly between 21 and 50 years and being mainly women; more than 80% had first symptoms before 31 years and reported their QoL as bad or fair; 50% is neutral with respect to the assumption that therapy is able to control the disease; more than 50% often or always felt guilty towards people close to them because of their health condition, experienced concern or fear for their health, felt lonely because of their rare disease and experienced economic consequences because of the disease. More than 50% of them had a caregiver, while the majority often/always perceive the unpredictability of their disease and they had difficulty living with their illness; more than 50% never felt able to do something to improve their symptoms; the majority perceived that the illness affected the way others see them; more than 50% felt ashamed of their illness at least sometimes. Moreover, only about 40% of them was able to openly talk about their disease and the majority tough their illness will get worse over time. The large majority had not, or not completely, accepted the fact that they have BS and declared illness affected the perception of themselves; about 80% often or always felt worried about their health and thought they get sick more easily than others. In addition, almost all taught their illness frequently had many effects on your life; more than 50% had family members frequently worried about their health; about 80% felt their illness had an impact on their family; less than 80% knew other people suffering from BS and about 70% were in contact with the association (or used their service).
Analysis of BS Patients’ stories
A total of 43 stories were collected from patients and their demographic data are summarised in Table 4. The most frequent words expressed in the stories, after removing articles, conjunctions and punctuations, are represented in a word cloud (Fig. 1). The most frequent words used in the stories were years (found n.75 times), disease (found n.73 times) and Behçet (found n.38 times), while a series of other words such as diagnosis, symptoms and ulcers were repeated in the stories with a similar frequency (found n.30, 29, 29 times). In addition, the words problems, life and work also emerged as frequent words (found n.27, 26, 26 times).
The sentiment analysis showed fear and anger as the most prevalent emotions that were expressed in the stories probably with reference to the long and difficult journey lived by BS patients before getting the diagnosis as well as concerns on the different symptoms experienced. However, a sense of trust also emerged, possibly linked to the hope of having more experts centres for BS and of having a future cure for BS available for all patients (Fig. 2).
The stories provided a very deep and emotional glance into the journey of BS patients. As a matter of fact, using a qualitative approach to analyse text allow identification of feelings and perceptions related to three main phases that were related to the pre-diagnosis phase, the time of diagnosis and after the diagnosis.
“I didn’t understand, I didn’t know”. In the pre-diagnosis phase, patients expressed frustration and concern due to the many exams, consultations and hospitals they had to experience before getting the diagnosis. In addition, patients experienced a deep feeling of mortification when being addressed as “hypochondriac” or “depressed” and felt not understood or listened by the healthcare professionals that were treating them. The stories tell, in fact, of the many years (and money) spent by patients while travelling across the country in different hospitals searching for the right clinician that could formulate a specific diagnosis.
“When I had my diagnosis, I felt reassured, because I knew who I was fighting”. When receiving the diagnosis of BS, patients tell about their mixed feelings that range from confusion and rage to relief and satisfaction. Having a precise diagnosis was perceived as the beginning of a new journey, something unknown due to the uncertainty, the complexity and the rarity of BS and, parallelly, as something that brought “certainty” in the life of BS patients, “knowing who to fight” is perceived as a liberation for the dark feelings lived during the pre-diagnosis phase.
“After all, life can be beautiful also with BS”. After the diagnosis, patients have clearly expressed that in many cases, the new journey have brought them into a new dimension, in which personal life, relationships and working life had to realign to the new scenario. Being a BS patient brought a new awareness of themselves and their priorities, pushing them to reconsider what really matters in life and to have a new, deep sensitivity toward the outside world. In terms of personal relationships, patients report that informing their friends, families and other people close to them caused opposite reactions: on one side, people that either denied the disease or that “disappeared” and on the other side, people that understood their feelings, that provided help and continuous support, “slowing down” when patients weren’t able to face life at same speed.
Globally, an important enhancer was represented by the role played by the BS patients’ association, that was perceived as a source of information, of help and as “safe place” in which patients could share their emotions and feeling and most of all “didn’t feel alone anymore”.
The present study offers an overview of disease perception among adult BS patients, combining two different approaches. On one side, a first assessment was performed by means of a co-designed survey aimed at exploring both disease perception and quality of life among BS patients; on the other side, the NM approach was adopted to allow patients to freely express their feeling about the disease, thus also disclosing aspects potentially not covered with the survey.
Results from the survey revealed that, despite some degree of variability among the study population, patients generally reported some concerns with respect to the impact of BS on their life and families, also in view of the unpredictable nature of the disease. BS is also perceived to significantly affect patients’ perception of themselves and of the world around them, especially in terms of working life and personal relationships.
The cluster analysis performed in our study allowed the identification of three different groups of subjects that perceive the disease differently. The three groups were characterized by diverse feelings about their disease perception but also characterized by different socio-demographics profiles. The first group of BS patients is convinced that their treatment can control the disease and were in contact with other people affected by BS. The second group is not really convinced that the therapy is able to control BS, while about two thirds of them didn’t know anyone else affected by BS. On the other hand, a third group have not accepted the disease even if they are in contact with other BS patients. Therefore, we can assume that knowing other BS patients and being in contact with a patients’ organisation can help. However, accepting or not the disease has a strong impact not only on the daily life, but also in terms of how they perceive themselves and in terms of hope for the future.
The NM approach adopted in this study allowed to further explore individual perceptions and needs of BS patients. Despite telling their individual story, patients often addressed common issues, such as the long and complex journey faced from the disease onset until the BS diagnosis is formulated, which was strongly connected to the concept of time and perceived as an exhausting period of their lives. Data from the literature described how delays in BS is a well-known issue [17,18,19,20,21] and this can be aligned to the fact that many stories described in great detail the different milestones of the period lived before the diagnosis, including specificities on the hospitals visited and on the clinicians consulted.
A strong focus on emotions and feelings permitted to enter the complexity of living with BS. The combination of very different emotions perceived at the time of diagnosis highlights how important it is to ensure an early diagnosis for BS patients and to provide an appropriate flow of information on the disease when communicating the diagnosis, also taking into account the important role played by the patients’ organizations.
Although the findings are not directly comparable (due to the different methodological approaches adopted), the results of our study are partially in line with previous studies also from different countries on the impact that BS has on the lives of the patients [5,6,7].
To our knowledge few studies tried to get insight into patients’ perceptions using the NM approach and a structured qualitative analysis, some recent experience emerged for diseases other than BS [22, 23] none combine a quantitative and qualitative approach to deepen into disease perception among BS patients.
Some limitations of our study need to be acknowledged. First, the selected nature of the patients cannot exclude the presence of selection bias, thus limiting the generalizability of results; second, the approach used to collect answers from the survey and patients’ stories does not allow to link the answers to the questionnaire with the surveys, also preventing to know if there are patients who participated in both evaluations.
To our knowledge, this is the first study on BS that addressed disease perception with a combined approach involving questionnaires co-designed with patients and narrative medicine that allows to take into account the perspectives and the experiences of BS patients. Listening to the voice of patients is really important and several methodological approaches can be adopted to do that; in fact, the main novelty of our study is represented by the combination of different approaches, such as narrative medicine, supporting the fact that the usual evidence-based medicine techniques can be integrated with different methodologies, in order to improve the understanding of the perspective of the patient. As a matter of fact, this combined approach can provide invaluable information not only for the BS community, but also for the real-life clinical practice, since having a better understanding of how the BS patient perceive the disease, also in terms of disease activity, and the impact of BS in his/her life, can definitely support the usual approaches to the disease and improve the management of BS patients.
Availability of data and materials
The data collected have been reported in the results. For further information, please contact author for specific data requests.
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The authors wish to thank the Italian patients’ association for Behçet disease (SIMBA OdV) for providing support in developing and disseminating the questionnaire used in the present study.
No financial support has been received for this work.
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Since the approach adopted was to fill an anonymous survey with a clear statement of consent filled by the patients, the IRB was not requested.
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Additional file 1.
Graphical representation of subjects on a bidimensional plane according to cluster membership
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Marinello, D., Palla, I., Lorenzoni, V. et al. Exploring disease perception in Behçet’s syndrome: combining a quantitative and a qualitative study based on a narrative medicine approach. Orphanet J Rare Dis 18, 58 (2023). https://doi.org/10.1186/s13023-023-02668-8
- Behçet’s syndrome
- Disease perception
- Narrative medicine
- Cluster analysis
- Text analysis