The Subjective Experience of Patients Diagnosed with Hereditary Hemorrhagic Telangiectasia: a Qualitative Study
Abstract
The aim of the present study was to understand the context and psychological impact for patients diagnosed with hereditary hemorrhagic telangiectasia (HHT). Semi-structured interviews were conducted with 9 patients affected by HHT, and the transcripts were analyzed using interpretative phenomenological analysis. The results of this study allowed us to propose a new hypothesis to explain the delay in diagnosis: the trivialization of symptoms associated with HHT. Moreover, the results showed that a genetic diagnosis of HHT results in emotional shock, uncertainty about the future, and worry about one's children in parents who are confronted with the dilemma of facing the reality of the diagnosis or delaying dealing with the diagnosis until disease onset. Family and personal perceptions of the disease influenced not only the delay in diagnosis but also the emotional and behavioral reactions of patients following a genetic diagnosis.
Introduction
Hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber disease (MIM 187300) is a rare autosomal dominant genetic disease. More than 90 % of cases are the result of a mutation in either the ALK1 or ENG gene (located on chromosomes 9 and 12, respectively) (Bossler et al. 2006). The mutated gene generates visceral arteriovenous malformations, which may be located in the liver, lungs, gastrointestinal tract or brain (Sabbà et al. 2006). Most HHT patients suffer from telangiectasia, and more than 90 % of patients are affected by recurrent and spontaneous epistaxis (Dheyauldeen 2011; Garg et al. 2014). To date, only a few studies have investigated the psychological consequences of HHT. Furthermore, these studies mainly investigated quality of life using quantitative methods, which prevents obtaining a deep understand of the specific experiences of patients diagnosed with HHT. Studies have shown that patients with HHT have lower levels of health-related quality of life than healthy people, particularly in domains related to physical and social functioning, vitality and mental health (Dupuis-Girod et al. 2010; Geirdal et al. 2012, 2013; Geisthoff et al. 2007; Ingrand et al. 2011; Pasculli et al. 2004; Pfister et al. 2009). Therefore, patients with HHT encounter difficulties dealing with their health status; however, to date, there is little information regarding the personal and subjective experiences of patients with HHT.
The present research aims to fill this gap by focusing on understanding the process leading to HHT diagnosis and the experience of patients who have undergone genetic testing. Understanding the lived experience of HHT patients includes consideration of learning the genetic test results. Indeed, hearing the diagnosis of a genetic mutation underlying the HHT disease exposes patients to the uncertainty and the uncontrollability of the disease development, a 50 % risk of transmission to their children, and potential life style and life values modifications. Therefore, the patients’ emotional reactions to the test result may influence their experience of living with this diagnosis. This will allow us to understand patients’ subjective perceptions of the disease and the impact a diagnosis of HHT has on their daily life. We chose to use qualitative research methods to investigate these questions because they are suitable for research topics that are complex, under-researched, and for which relevant variables have not yet been fully identified (Smith et al. 2009).
Qualitative research methods attempt to provide a rich description of the under-researched topic and because they are exploratory, allow for the possibility of unexpected findings (Smith and Dunworth 2003). Fully understanding the patient's experience surrounding a diagnosis of HHT requires using a methodology that is focused on the individual's personal world and how that individual finds meaning in her or his experiences. For these reasons, we chose to use interpretative phenomenological analysis (IPA) in the present study (Bramley and Eatough 2005). IPA is phenomenological in that it focuses on an individual's subjective experience rather than formulating an objective account of the event (Flowers et al. 1999). IPA emphasizes that life events are deeply understood by taking into account how they are experienced by the individual through her or his own personal world (Chapman and Smith 2002; Smith et al. 1999). Therefore, the aim of this study was to fill in the current gap in the literature by understanding the experience of patients facing a diagnosis of HHT (both the context and psychological impact) in order to improve how health care professionals provide genetic counseling.
Methods
Participants
The sample included nine patients (3 males and 6 females) who were diagnosed with HHT at a genetic unit located in a French university hospital. After receiving ethical approval from the regional committee of persons’ protection (CPP North West III), 15 potential participants were approached by the geneticist with an information letter that explained the research project and an informed consent form, which allowed us to contact them. Two of the potential participants declined to participate. We only contacted individuals who returned the signed informed consent form to the geneticist. The inclusion criteria included being a carrier of the HHT gene, no comorbidities, epistaxis (nosebleed), and age older than 18 years. In order to recruit a fairly homogenous sample, four patients were excluded because they did not have epistaxis. Given that IPA focuses on a detailed analysis of each case, sample sizes are typically small and therefore, our sample size was sufficient for the analysis (Smith et al. 2009).
Instrumentation and Procedures
Semi-structured interviews were conducted by a researcher in each participant's residence. First, the interview began with general questions to encourage the participants to talk about their experiences. The participants were asked to talk extensively about the emergence of their disease. Once the participants were deeply engaged in the interview topic, funneling was then used to ask more specific questions (Table 1) to elicit the interviewees’ perceptions of their own experience. Moreover, when participants did not explain their experience in depth, the interviewer encouraged them to dig deeper into the topic. A semi-structured interview was used in order to facilitate flexibility in the interview and to explore novel areas, as suggested by Smith et al. (2009). Although the interviewer followed an interview guide, the participants were encouraged to talk in detail about their diagnosis experience. At the end of each interview, time was allocated to allow the participant to ask questions and discuss issues that arose during the interview. Each interview was recorded and fully transcribed.
| 1. Could you describe the onset of your first symptoms? |
| - Which were your first symptoms? |
| - How did you experience the onset of symptoms? |
| 2. Could you describe the context in which your diagnosis was established? |
| - How did you discover the existence of the HHT disease? |
| - What factors prompted you to seek genetic testing? |
| 3. How did the disclosure of your test's results take place? |
| - How did you experience the news of your test results? |
| - What was your reaction to confirmation of the diagnosis? To facing having the disease? |
| 4. What impact did the disclosure of your test results have on you as a person? |
| - Did you feel different as a person following the test's results? |
| - What were your initial concerns following the disclosure of your test results? |
Data Analysis
Given the double hermeneutic process of IPA, bracketing was used to minimize the influence of the researchers’ preconceived beliefs on the interview interpretation, which improves the trustworthiness of the analysis. Therefore, before beginning the interviews, the researchers noted their own thoughts concerning the context of HHT diagnosis and the emotional reactions following a genetic diagnosis of HHT. Moreover, analyses were conducted separately by two researchers and subsequently pooled to compare their interpretations and ensure the trustworthiness of the analysis.
During the analyses, the four stages of the IPA analysis process, which are outlined by Smith et al. (2009), were closely followed. For each interview, the transcript was read several times to ensure that the researchers became familiar with the data (Smith et al. 2009). Annotations were made along the left-hand margin of transcripts to capture the initial interpretation of the participant's experience. The transcript was then re-read to translate the initial margin notes into emergent themes at a higher level of interpretation. A table was created to integrate superordinate themes for the first participant within which subordinate themes were included, along with instances supporting each theme. This process was repeated for each interview. After the analysis, cross-case patterns were established and documented in a master table that was created to connect superordinate and subordinate themes for the sample (Table 2). A second researcher audited the master table to ensure that the interpretations were supported by and well represented in the transcripts.
| 1. The delay of the diagnosis |
| - The trivialization of symptoms |
| - No worry until the worsening of epistaxis |
| - The late onset of epistaxis: a source of anxiety |
| 2. From the emotional shock to upheaval after the diagnosis |
| - The emotional shock of the announcement |
| - The difficulties of identity adaptation |
| - The feeling of injustice |
| - The sword of Damocles |
| 3. Facing a distressing dilemma: The diagnosis of HHT in one's children |
| - The delay because of the fear about potential children's results |
| - A diagnosis which implies fear for the future |
Results
Participants’ ages range from 24 to 58 years (M = 41 years) and the mean of time they were diagnosed with HHT is 38 years. Six of them suffer from epistaxis since the childhood and three of them have known the late onset nosebleeds (Table 3).
| Gender | Current Age | Period of epistaxis onset | Age of diagnosis | |
|---|---|---|---|---|
| P1 | Female | 50 | Adulthood | 49 |
| P2 | Female | 35 | Childhood | 33 |
| P3 | Male | 58 | Childhood | 58 |
| P4 | Female | 30 | Childhood | 26 |
| P5 | Female | 30 | Childhood | 27 |
| P6 | Male | 35 | Childhood | 34 |
| P7 | Female | 46 | Adulthood | 43 |
| P8 | Male | 56 | Adulthood | 50 |
| P9 | Female | 26 | Childhood | 24 |
The study results highlight the personal journey that led each patient to undergo genetic testing from the first signs of HHT to the immediate issues following receiving the genetic test results.
The Delay in Diagnosis
P6: Symptoms… I already had symptoms before but… given that I have had these symptoms for years, I lived with them … as a boy living in the countryside, having nosebleeds was not disturbing for anyone except the cows. So, no, nosebleeds didn't traumatize me.
P4: When I was younger, I always had nosebleeds, but my grandfather had nosebleeds, my mother had nosebleeds, it's not… […] It was entirely normal. So we coped with them without problems.
Given that several members of their family suffered from epistaxis without any attempts to discover any underlying health problems, it appears that neither these participants nor their relatives perceived epistaxis as a symptom of a complex and serious disease.
P6: It was discovered following my sister and her daughter's health problems. So, they realized it was a genetic disease, and therefore, they did a medical analysis on my mother… and my mother also suffers from the disease. So after that, it was like a snowball effect, we were warned…
P5: My father suffered from the disease for several years and then, I suspected I had the disease because for the majority of my life, I suffered from nosebleeds but not too frequently… beginning two and a half years ago, the nosebleeds increased. More nosebleeds, more frequently… So, I went… I underwent a medical examination to find out if I was likely to suffer from HHT.
P7: At the beginning, I said to myself “I start to bleed from the nose… It is strange.” One time, two times, three times… all of the time… At this moment, it was a catastrophe. I said to myself “I should go consult somebody.”
P8: Then, what happened…? I began to suffer from abundant nosebleeds, repeated epistaxis, and it was every day. It was also during the night, and then it lasted one hour…[…] to the extent that I panicked. I was alone, here at home. So, I called the physician in a panic.
From Emotional Shock to Upheaval After the Diagnosis
P2: We all underwent a medical analysis at the same time. We had a blood test, and then I had the symptoms on my mind… But, it's true that it was like a slap in your face!
P1: Although I knew, although I read information on the Internet, and although I knew what the disease was… At this moment, the physicians asked me if I had any questions but… no… I was unable to ask any questions [Participant began to cry at this moment of the interview].
P9: And the D-day, they announced it to me, so… It's true that it was difficult and then they explained it to me but… I listened… but not much more… I was thinking about medical exams, how it will happen, and so on…
P1: Drugs… it's still okay…because I know that I need them. They relieve me. At the beginning, it was very difficult to take drugs… for anemia, it was okay… but heart medicine… I said to myself, “Heart medicine, at my age…!” It was impossible for me!
P9: It's unfair because there are a lot of people who are nasty, who stab others, but these people have nothing. They are healthy. But ourselves, I mean we are not nasty at all, but the disease has affected us…
P7: I said to myself “Perhaps I have to change my lifestyle”. Indeed, I thought that the disease was a problem related to my hygiene. It's true I don't sleep a lot.
P9: My wish would be that the physicians would find a treatment for the disease that would stop its progression … Because at this moment, I'm talking to you, but who is to say that at this moment my liver is not affected? Or my heart?
P8: It's not a serious disease [for me right now], of course, but it's very troublesome and it may become serious… It may become serious insofar as you don't know… and if you have the disease in your lungs, for example, you have the risk of dying…!
Facing a Distressing Dilemma: the Diagnosis of HHT in One's Children
Because HHT is a genetic disease, this results in fear concerning the genetic status of one's children. Therefore, the six participants with minor children were faced with the dilemma of whether or not to learn the genetic status of their children. However, the fear of a genetic diagnosis led to different decisions among the sample.
P9: I mean… a blood test… She will do it, but complete medical exams… I prefer that she does them later, when she is 5 years old because… she is too young.
P6: There is one child of our four who did the genetic test because he was the only one who suffered from nosebleeds, but he's the only one who has had problems… but it's okay, he doesn't have the disease.
P9: Yes, I would like to know for her because she's my daughter. I don't want my daughter to be ill, but… on one hand, I [do not want to know, but]… I say to myself, in my mind, that even if I do not want to know, I also want to know because I don't want to find this out when she is 15 or 16 years old and when she will spend more of her time in the hospital than at school.
P2: It's not me. I asked. I said that I didn't want to do it, not now. I wanted to wait until he was at least 8 or 9 years old, but they didn't listen to me. They sent me directly to the hospital for a consultation. If I refused, I was scared that people would say “She doesn't want to take care of her child!”, so… well, now it's done…
P4: Well, when the disease affects the little girl… and it's so serious… I'm worried about the future. We don't know what may occur…
P2: It's for them that we fight, and then, I also say to myself… When I see other people who are affected… There are children who are affected… When I see my cousin's little girl, it's really terrible! [Interviewer: What does she have?] She is affected by the disease, but for her… her lungs are seriously affected! [Interviewer: Is it something that scares you?] Oh yes… For my son, yes!
P3: For her, the disease has not really developed at this time, it's fine… […] We hope that it will not be too serious… And that science will quickly progress so that she will not be too bothered when the disease will progress.
Discussion
The aim of this study was to fill in the current gap in the literature by understanding the experience of patients facing a diagnosis of HHT in order to improve how health care professionals provide genetic counselling. We found that undergoing genetic testing was dependent on the personal and family history of the patient. Genetic testing was delayed despite the early onset of epistaxis. This is in line with previous studies that showed a definitive diagnosis for HHT is made 25.7 ± 17.4 years after the onset of HHT symptoms (Pierucci et al. 2012). Although this delay in diagnosis is partially explained by diagnostic errors or by the delay between medical exams and the final diagnosis (Pierucci et al. 2012), the present findings suggests that trivialization of symptoms by affected individuals may be an additional explanation for the delay in diagnosis. In fact, episodes of epistaxis were rooted in the patients’ personal and family identity, and patients with early nosebleeds did not question that they had a more serious medical disease. The participants with early epistaxis had never consulted a physician for these symptoms until either another family member was diagnosed with HHT, which alerted them, or until their nosebleeds worsened. Only the appearance of nosebleeds (particularly recurrent nosebleeds) later in life (approximately 40 years old) generated anxiety and led participant to rapidly consult a physician. These results highlight the importance of informing the population about this specific rare disease and recurrent nosebleeds in order to avoid trivialization of the associated symptoms.
A diagnosis of HHT also involves psychological difficulties, including changing patients’ personal identity regarding their “new” health condition. This identity modification competes with their own long-standing self-representation, which changes from common nosebleeds to an incurable life-threatening disease. Similar results have also been found in patients with chronic illnesses who describe having one identity for their life before the disease and another identity that represents the person they are since their diagnosis (Asbring 2000).
Diagnosis also allows the patient to be aware of their health status and therefore, plan their medical monitoring, but it does not provide reassurance to HHT patients who face an unpredictable and silent disease. Despite medical monitoring, they remain worried about the progression of the disease. These results are consistent with previous studies (Geirdal et al. 2013; Geisthoff et al. 2007) demonstrating that the fear of complications and possible internal bleeding are a source of anxiety. This fear is also accompanied by feelings of injustice because genetic diseases are the result of uncontrollable factors, which is particularly difficult for the patients to accept. Because the disease is considered a punishment, the participants believed there was something wrong with their behavior that explained why they were diagnosed and they could perhaps modify their health-related behaviors to gain more control.
Passing the disorder on to their children also generated psychological strain for participants with children in the present study. These results are similar for other genetic diseases, regardless of the disease and the transmission mode (dominant or recessive) (McAllister et al. 2007). In contrast to the present results, fear of the risk of transmission was found in only seven of the 59 interviewed patients affected with HHT in a study using written open-ended questions (Geisthoff et al. 2007). One explanation for the difference in these results could be that the majority of our participants had children, whereas no information about the number of children was available for the Geisthoff study (Geisthoff et al. 2007). Moreover, worry about their child's diagnosis may not be the first answer that comes to mind when responding to open-ended questions about psychological strain, whereas the interviews used in this study allowed for a deeper exploration of the participants’ experience.
The participants who did not know their child's diagnosis delayed testing because of the young age of their child. They argued that they did not want to expose their children to medical exams because it would generate anxiety for all of them. However, they also expressed that they tried to avoid thinking about the disease in order to delay the negative impact of the diagnosis on their family's life. This avoidant coping strategy is common when people have to cope with a stressor that they consider out of their control (Carver et al. 1989). Therefore, the avoidant coping strategies of some participants may be an additional explanation for the delay in diagnosis of children and demonstrates the role that the parents’ experience with genetic counselling and their psychological adjustment to HHT diagnosis play in their children's medical monitoring. Evaluating the experience and adjustment of the parents would allow medical personal to identify parents who are more likely to delay diagnosis of their children and offer them psychological counselling. Conversely, parents who chose to know the medical status of their children to provide necessary health care felt anxious about the uncontrollable evolution of their children's health. These results demonstrate that psychological counseling should be part of genetic counseling.
Study Limitations and Research Recommendations
The present study only included individuals diagnosed with HHT and affected by epistaxis in order to obtain a homogenous sample, as suggested by Smith et al. (2009). However, this prevents understanding the experience of patients who are diagnosed with HHT and not impacted by this symptom. Furthermore, two of fifteen patients who were contacted by the medical team refused to participate. These two patients who refused could represent individuals who experience more difficulty facing the disease or, conversely, accepted their diagnosis; thus, there is potential selection bias in the study. However, the non-acceptance rate in this study is very low. Another limitation is that qualitative data are not intended to be generalized to the population of interest. Future studies with larger samples are warranted to determine the external validity of the present findings.
The findings of this study do not explain whether trivialization of epistaxis influences patients’ emotional responses following diagnosis. Further studies should investigate whether participants who considered epistaxis a characteristic of their family and personal identity were more likely to experience emotional shock following diagnosis. Moreover, given that the aim of the present study was to understand the experience of a diagnosis of HHT, the age of patients’ children was not considered as part of the inclusion criteria. Therefore, the observed avoidance of diagnosis in parents with children less than 3 years old may be specific for parents with young children. Further studies should investigate if parents delay the diagnosis of their children regardless of their age, or if it is specific for parents with young children.
Conclusion
The personal experiences of patients with HHT and their perceptions of their families’ experience significantly influence their view of symptoms and result in a delay of diagnosis. Although genetic testing allows patients to undergo medical surveillance, it also results in uncertainty about their medical health and their children's health, which generates anxiety. Therefore, genetic testing for HHT is a medical procedure that should be undertaken with caution and should take into account each individual's journey and personal meaning of their HHT symptoms as well as their long term psychological adjustment to the diagnosis. It is important that genetics professionals inform the public about the disease to avoid trivialization of epistaxis, which could delay early detection of HHT. Moreover, given the psychological impact of diagnosis on patients and the difficulty they encounter with the diagnosis of their children, the results of this study demonstrate the importance of psychological counselling for patients following diagnosis. Patients should be counseled on their acceptance of the diagnosis and coping approaches, which could alleviate their anxiety concerning their health status and the status of their children in order to decrease the delay in diagnosis.
Compliance with Ethical Standards
Funding
This study was funded by the “French Foundation for Rare Diseases/Fondation Maladies Rares”, the “National Solidarity Fund for Autonomy/Caisse Nationale de Solidarité pour l'autonomie”(CNSA), and the “Directorate general for Health/Direction Générale de la Santé”.
Conflict of Interest
Laura Geerts, Carole Fantini-Hauwel, Elodie Brugallé, Odile Boute, Frédéric Frénois, Lydie Defrance, Sylvie Manouvrier-Hanu, Florence Petit, and Pascal Antoine declare that they have no conflict of interest.
Human Studies and Informed Consent
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.
Animal Studies
No animal studies were carried out by the authors for this article.
