Abstract
Objective. Systemic sclerosis (SSc) is a chronic, progressive autoimmune disease with major end-organ involvement. Much attention has been focused on the management of physical and clinical manifestations; however, the effect of the disease and treatment on the patient’s identity, relationships, functioning, and mental well-being are less known. We aimed to describe the patients’ perspectives and experiences of living with SSc.
Methods. Electronic databases were searched to October 2014. Thematic synthesis was used to analyze the findings.
Results. We included 26 studies involving 463 patients. Six key themes were identified: distressing appearance transformation (disturbing facial changes, stigmatizing sickness, unrecognizable self), palpable physical limitations (bodily restrictions, frustrating mind-body disconnect, pervasive fatigue, disabling pain), social impairment (breaking intimacy, struggling to fulfill family responsibilities, maintaining work, losing independence), navigating uncertainty (diagnostic ambiguity, medically fending for oneself, unpredictable course of illness), alone and misunderstood (fearful avoidance of fellow patients, invisible suffering), and gradual acceptance and relative optimism (adapting to change and accepting limitations, taking a positive spin, cautious hoping, empowering relationships, valuing medical support).
Conclusion. SSc is a rare and unpredictable illness that undermines patients’ sense of certainty and control and impairs their self-image, identity, and daily functioning. Patient-centered care that encompasses strategies to promote self-esteem, resilience, and self-efficacy may help to improve treatment satisfaction and health and quality of life outcomes for patients with SSc.
Systemic sclerosis (SSc) is a connective tissue disorder characterized by progressive fibrosis and vasculopathy affecting the skin and internal organ systems. It mostly affects women and carries a mortality risk 4 times higher than age-matched individuals from the general population1. In the absence of a cure, patients face a lifetime of morbidity and treatment strategies that focus on limiting end-organ involvement2. As a result, the illness and treatment burden faced by patients can have detrimental consequences on their identity, relationships, functioning, and mental well-being.
Quantitative studies have shown that patients experience high rates of depression, anxiety about disease progression, and low self-esteem3,4. Sexual impairment, difficulty with parenting, and impaired participation in life are also reported5,6,7. However, quantitative studies do not provide detailed explanations about patient attitudes and beliefs.
Qualitative research can offer rich narrative data to provide in-depth insight about patients’ perspectives on living with SSc. Thematic synthesis of qualitative studies can generate a diversity of perspectives across different health-care contexts, and involves high-level analytical abstraction of findings from individual studies. We aimed to describe the breadth of experiences and perspectives of patients to inform strategies to improve and direct care to patient-centered outcomes.
MATERIALS AND METHODS
We followed the Enhancing Transparency of Reporting the Synthesis of Qualitative research framework8.
Selection criteria
Qualitative studies that reported the perspectives and experiences of adults (≥ 18 yrs of age) with SSc were eligible. This could include a patient’s insight, attitudes, and beliefs about any topic relating to the illness and treatment of SSc. Qualitative studies that did not elicit perspectives or experiences from patients directly were excluded. Any type of qualitative studies were eligible (e.g., semi-structured interviews, focus groups, observations). Journal articles, conference abstracts, and Masters and PhD dissertations were included. Excluded were observational epidemiological studies, non-primary research articles (letters, commentaries, and reviews), and non-English articles.
Data sources and searches
We searched MEDLINE, Embase, PsycINFO, and CINAHL from database inception to October 13, 2014. We also searched Google Scholar, reference lists of relevant studies, British Library Electronic Digital Thesis Online Service, the Europe E-theses Portal, and ProQuest. We screened the abstracts and discarded those not meeting the inclusion criteria and then examined the full text of potentially relevant studies. One author (AN) screened abstracts, which was crosschecked by AT. There were no disagreements. The search strategy is provided in Appendix 1.
Comprehensiveness of reporting
We used a modified version of the consolidated criteria for reporting qualitative health research (COREQ) framework9 to evaluate the completeness of reporting of each included study. Items specific to the research team, study methods, study setting, analysis, and interpretations were assessed. Two reviewers (AN and DT) independently assessed each study and resolved disagreements through a third reviewer (AT).
Synthesis of findings
We used thematic synthesis to analyze the data. We extracted all the participant quotations and text under the Results and/or Discussion section of each study and imported them into the HyperResearch software (ResearchWare Inc.; version 3.5.2). Preliminary concepts were inductively identified by AN without using a preexisting conceptual framework. The preliminary coding framework was discussed among authors AN, DT, VT, DSG, and AT. For each article, AN performed line-by-line coding into preliminary themes and subthemes with adjustments as new themes or subthemes emerged. AN, DT, VT, DSG, and AT identified conceptual links among themes to develop an analytical thematic schema. This research triangulation enhances the credibility of the findings and ensures that our analysis reflects the full breadth and depth of data.
RESULTS
Literature search and study descriptions
Twenty-six articles (12 journal articles, 7 abstracts, and 7 dissertations) involving 463 participants were included (Figure 1). The study characteristics are provided in Table 110–19,20–29,30,31,32,33,34,35. There were 343 women (84%), and the age of participants ranged from 22 to 86 years. Subtypes of SSc were predominantly patient-reported and specified in 9 studies (diffuse cutaneous SSc, n = 77; limited cutaneous SSc, n = 139). The disease duration/time since diagnosis ranged from 0 to 48 years. Data were collected using interviews (14 studies), focus groups (10 studies), phone interviews (3 studies), and an open-ended questionnaire (1 study).
Search results.
Characteristics of the included studies.
Comprehensiveness of reporting
The comprehensiveness of reporting was variable, with studies reporting 2 to 23 out of the 26 possible items included in the modified COREQ framework (Table 210–19,20,21,22,24,25,26,27,28,30,31,32,33,34,35). There were 14 (54%) studies that stated the participant selection strategy and 23 (88%) that described the participant characteristics. A topic/question guide was provided in 20 studies (77%), and audio or visual recording was reported in 18 (69%). There were 17 studies (65%) that specified the use of researcher triangulation in data analysis, and 20 (77%) provided raw data including quotations.
Comprehensiveness of reporting in included studies (consolidated criteria for reporting qualitative health research).
Key synthesis
We identified 6 themes: distressing appearance transformation, palpable physical limitations, social impairment, navigating uncertainty, alone and misunderstood, and gradual acceptance and relative optimism. The themes are described in the following section, illustrative quotations are provided in Table 310–19,20,21,23,24,25,26,27,28,35, and conceptual links among themes are presented in Figure 2.
Thematic schema representing experiences and perspectives of adults living with scleroderma.
Illustrative quotations from study participants.
Distressing appearance transformation
Radical facial changes were the most devastating aspect of SSc for some patients. Patients felt they looked terrifying, unattractive, and undesirable, using terms such as “freak,” “Dracula,” “monster,” or “ugly duckling” to describe themselves28. This caused some to become emotionally distressed to the point of contemplating suicide. Patients were painfully aware of their facial changes and desperately tried to hide their appearance by wearing their hair over their face and using sunglasses, hats, or makeup.
Telangiectasia gave the appearance of “chicken pox” and patients felt ostracized and often needed to explain to others that they were not contagious12. Patients felt particularly exposed to prejudice, which they attributed to their bodily deformities. For example, 1 patient was asked to sit out of a meeting so “nobody would have to look at [their] hands”15.
Patients felt a deep sense of grief over their lost identity because they no longer recognized themselves as a result of their dramatically changed appearance. They were ashamed of the person they had transformed into, desperately wanting others to know “this isn’t me”28. Patients were reminded of their mortifying transformation when old friends had “no clue” of who they were or mistook old photos to be someone else.
Palpable physical limitations
For some, SSc was physically limiting as their skin hardened to become “like a mannequin”15. Patients felt they had to abandon previous leisure and work activities, and blamed themselves for “ruining everybody’s time”21.
Some patients articulated an exasperating mismatch between their mental capacity and physical capability. Although patients continued to be mentally astute, they felt forced to pursue less physically demanding jobs16.
Patients found their lack of energy “overwhelming”13. It impeded their ability to work, participate in leisure activities, and look after themselves and their family. Basic self-management tasks such as applying ointment several times a day became “too onerous”14. Weekends were spent resting, and hobbies were replaced by “lying in bed”13.
Raynaud phenomenon, calcinosis, and digital ulcers were described as being intensely painful and debilitating by some patients. This was emotionally distressing and also limited patients’ ability to work, go outdoors, or even walk.
Social impairment
Women felt that they were undesirable, unattractive, and had “less to offer”28. Those who were single were afraid of remaining unwanted. Some had the painful experience of being told they were “no longer sexually attractive” by their husbands, or treated as if it was an embarrassment to be seen in public together. Lower libido, decreased secretions, and physical pain were barriers to sexual activity and made some women feel guilty.
Patients struggled to fulfill roles as parents, grandparents, and children. In particular, women felt inadequate because they could not care for their children or perform household duties and men regretted being unable to be physically active with their children. One patient felt guilty about being unable to reciprocate the help provided by parents.
Diminishing work capacity made patients feel pressured and disappointed with themselves. They reduced their work hours because of exhaustion, or sought help with fine motor tasks such as stapling, typing, and filing because of hand deformities. Some experienced discrimination by being unfairly demoted or treated as if they were “disabled”24. Others were well supported and were given flexible working hours, permission to work from home, or had modified work environments such as the use of personal heaters and changes in door handles.
Patients were annoyed and frustrated that “everything takes longer to do”13, and some struggled to complete simple tasks such as drinking water or opening doors. Patients loathed the idea of becoming dependent on others and were determined to remain independent. Some women felt frustrated by their husbands who would “smother” and “wait on (them)”15. In contrast, others were saddened by the lack of support they received.
Navigating uncertainty
Some patients were frightened and exasperated when their symptoms progressed and remained unexplained despite seeking medical support. Patients had their symptoms dismissed or were misdiagnosed as having depression, cancer, or other illnesses. When a diagnosis was finally made, this brought great relief and a sense of closure to some. One patient stated, “I was so thrilled… It didn’t matter that it is a potentially fatal disease”27.
Some patients felt confused and misinformed by poor communication about their illness. Patients “felt obliged to do their own research”14, but became disturbed by images of facial changes or statistics on reduced life expectancy. They mistrusted some health professionals who were perceived as being uneducated and suspected that some medications were unnecessary. Another problem was that the timing and the characteristics of disease manifestations were unpredictable. Symptoms could “jump from place to place”13. Patients could feel well and then “something else pops up”13. Patients were terrified of developing breathing difficulties, facial or hand changes, and the possibility of impending death. Some felt they had no control over what could happen, and were unable to understand why symptoms worsened.
Alone and misunderstood
Although support groups offered a rare opportunity to meet other patients, some found the experience horrifying. Seeing other patients with physical deformities, in wheelchairs, or taking supplemental oxygen was a frightening glimpse into their potential future. Accordingly, 1 patient remarked that it was common for patients to “avoid interaction with one another”11. Some patients were concerned about scaring others who were less affected. In contrast, others found support groups a valuable way to share their experiences and felt hope when they met others who were living well with SSc.
Patients without visible features of SSc were angered by family members who told them they “looked good” or were “doing fine”23. Although they had “pain, fatigue, and constant worry”26, if they brought these up, they felt they were being perceived as “complainers”23.
Gradual acceptance and relative optimism
Over time, some patients became confident and determined that they knew “how to handle”13 their disease. For example, patients were able to apply their own eyeliner, wash dishes by using a smaller sponge, or open cans by using a towel or knife. They created their “own therapy mix” for finger ulcers and pain14. Patients accepted new restrictions such as not being able to ski because of Raynaud phenomenon or having to take breaks or accept help to cope with home and work life.
Some patients were grateful for the experience of having SSc because it helped them appreciate life, work harder, and achieve more. One patient described the illness as a “path of personal growth and spiritual transformation”28. Some attributed this attitude to being an older person or having a positive character. Other patients, including those with life-threatening disease, transitioned from devastation and despair to relative optimism and peace.
Patients held faith in their religion or advances in medicine to discover a cure for SSc. Some patients were hopeful that they would remain stable in their disease course and not become affected like others with advanced SSc.
Being treated in the same way by family and friends despite physical changes of SSc was particularly important for patients. One patient was touched by her husband who said, “After 30 years of marriage, we are the same people inside, we just have different wrappers”12. Patients found enjoyment in their relationships with family and friends in the place of physical leisure activities. Women appreciated husbands who would help them with household chores and looking after their children.
Patients valued honest and empathetic communication by physicians, which helped to counter the devastation of being told of frightening disease manifestations. Another source of great relief was to be diagnosed early in the course of the illness. In contrast to the frustration felt by patients when encountering doctors who were uneducated about SSc, 1 patient was grateful and impressed by the enthusiasm of a health professional to learn more about SSc and to teach others.
DISCUSSION
Patients with SSc contend with an uncertain prognosis and feel isolated by the rarity of the disease. Fatigue, pain, and hand deformities created frustration and guilt because patients were unable to fulfill their previous work and family roles. Also, the visible physical changes affecting their face and hands marred their self-perception such that they described their appearance as unsightly and repulsive. For this reason, some withdrew within themselves, which consequently placed strain on relationships and intimacy with their partner. Some learn to cope and adapt and felt their experience of being severely ill or having facial deformities led to personal enlightenment and emotional growth. While some patients were well supported in their workplace, others felt aggrieved by perceived discrimination.
There were some apparent differences across populations using qualitative comparisons. Older patients with established disease appeared to cope better with physical deformities because over time they had learned to adapt and accept their limitations. Younger patients at earlier stages of their disease were more emotionally affected by facial and hand deformities and found it difficult to cope with work and looking after families.
Some of the findings in our study are similar to the experiences of patients with other chronic conditions. The uncertain course of the illness, fatigue, pain, role reversals, and dependence on others have been identified in patients with systemic lupus erythematosus and rheumatoid arthritis (RA)36,37. Patients with psoriasis also experience issues with self-esteem, stigmatization, and embarrassment38. The effect of facial changes was particularly striking in our review and highlights the importance of this aspect of the disease in patients with SSc. Some avoid meeting others with the same condition because the physical changes in others are so painful to observe.
Our study provides a range of insights about the concerns, attitudes, and experiences of patients with SSc. We coded the data using software to facilitate a systematic and auditable process. Researcher triangulation was conducted to ensure that all data were reflected in the analysis, and independent assessment of transparency of reporting was performed. However, our study has some potential limitations. Studies that did not report participant quotations contributed to a lesser extent to the findings. The majority of studies were conducted in English-speaking, high-income countries, and although many of these countries are multicultural, the transferability of our findings to other cultures is uncertain. We were unable to describe the differences between sexes because the majority of data from the included studies were from women. The differences between types of SSc (limited or diffuse) and specific organ involvement could also not be included because this was largely unreported.
Patients with SSc appreciate doctors who communicate empathetically and openly to them about their disease. Comprehensive education about the diagnosis, disease manifestations, treatment options, and likely prognosis balanced with empathy, support, and fostering hope for better outcomes and advances in medicine can help to mitigate fear and confusion. Online and written patient educational material from patient support organizations such as the Scleroderma Australia and New South Wales (Australia), Scleroderma Foundation (United States), Scleroderma Society of Canada, and the Federation of European Scleroderma Associations (Europe) can be useful adjuncts in patient education. A study of 49 patients with SSc found that a mail-delivered, self-management program including a workbook and exercise DVD was effective in decreasing depression, fatigue, and pain, and improved self-efficacy in managing pain39. This program included information on medical aspects of the disease, dysphagia, fatigue management, advocacy, activities of daily living, oral hygiene, skin and wound care, psychosocial changes, and exercises. Another study evaluated online information and support in a survey of 429 patients with SSc40. The study found that many patients with SSc use online resources and concluded that they need more information on physical, psychological, and social consequences of their disease. An interactive health communication application that includes e-consults and home access to electronic medical records and provides information about disease and treatments, and online peer-support forums, were perceived to be potentially useful by these patients.
The psychosocial effect of SSc is complex and requires a multidisciplinary approach. Women may feel unattractive and lose self-esteem, isolating themselves and withdrawing from society. Social workers and psychologists as well as patient-support forums may help provide counseling for patients. Use of cosmetics and skin care, advice from other patients, online resources, dermatologists, or beauticians may help improve appearance and self-esteem. Cognitive behavioral therapy can improve stress, depression, and disease activity in patients with RA41. In patients with body dysmorphic disorder, cognitive behavioral therapy has been used to successfully modify intrusive thoughts of body dissatisfaction, overvalued beliefs about physical appearance, exposure to avoided body image situations, and elimination of body checking42.
Patients can struggle to maintain work and experience discrimination and lack of support in the workplace. Research has highlighted the importance of multidisciplinary care in improving patient outcomes in rheumatic diseases. Occupational therapy interventions in patients with RA and osteoarthritis (OA) have shown improved functional and work outcomes including work satisfaction and work performance, and decreased pain, helplessness, and disease activity43,44.
Conducting adequately powered trials of interventions to improve health-related quality of life is difficult in patients with rare diseases such as SSc. The Scleroderma Patient-centered Intervention Network is an international collaboration of patient organizations, clinicians, and researchers that aims to develop a research infrastructure to test accessible, low-cost, self-guided online interventions to reduce disability and improve quality of life for people with SSc45. Our review suggests that interventions focusing on changes in appearance and improving self-esteem, practical tips on how to cope with disability, fatigue, and pain, improving workplace support and understanding, and promoting self-efficacy and resilience are needed. A review of 34 controlled psycho-educational trials in arthritis reported that although comparisons with the varied interventions are difficult, overall there is improved pain, depressive symptoms, self-efficacy, coping abilities, and self-management behaviors with these interventions. Most patients in these trials had either RA or OA and evaluated either cognitive-behavioral therapy or self-management programs46. Trials aimed at improving quality of life outcomes in patients with SSc are lacking.
The Health Assessment Questionnaire-Disability Index (HAQ-DI) and the Medical Outcomes Study Short Form-36 (SF-36) are validated outcome measures of function and quality of life in SSc that have met the Outcome Measures in Rheumatology Clinical Trials filter47. The Scleroderma HAQ is a modified version of HAQ-DI with additional SSc-specific items48. All of these measures, however, do not assess the effect of changes in physical appearance or self-esteem, which we have found are important to patients in our study. Other quality-of-life tools addressing this, such as satisfaction with appearance scales49, have been used in patients with SSc and could be incorporated into existing tools. The European League Against Rheumatism Scleroderma Trials and Research group initiative is currently developing an International Classification of Functioning (ICF) core set for SSc50,51. Our systematic review could help guide initial data collection for this ICF core set. For example, the ICF is used to quantify the effect and burden on functioning of health conditions, but does not identify all the domains (e.g., personal identity).
Our systematic review has identified several knowledge gaps that require further study. This includes patients’ perspectives on medication taking and fears of genetic transmission onto future children. Understanding of how patients learn to cope well with their illness including practical tips for other patients would be useful for designing future educational programs and interventions. Finally, the male SSc experience and the differences between subtypes of SSc are other undetermined areas for further research.
SSc is a rare and unpredictable illness that can be perceived as disfiguring. It undermines patients’ sense of certainty and control, and impairs their self-image and daily functioning. A multidisciplinary approach to patient-centered care that encompasses strategies to promote self-esteem, self-efficacy, and open communication may help to improve treatment satisfaction, health, and quality of life outcomes for patients with SSc.
Acknowledgment
We acknowledge Associate Professor Kathleen Tymms for providing input on the interpretation of the data and manuscript revision.
APPENDIX 1.
Search strategy
Footnotes
Supported by Scleroderma New South Wales, Australia. AT is supported by an Australian National Health and Medical Research Council Fellowship (ID 1037162).
- Accepted for publication March 1, 2016.
