Darier disease (DD) is a rare autosomal dominant, acantholytic disorder caused by mutations in the ATP2A2 gene (Gordon-Smith et al., 2010). The protein product of ATP2A2 is a sarcoplasmic/endoplasmic reticulum calcium pump that is required for the normal physiologic functioning of both the skin and brain (Craddock et al., 1994; Gordon-Smith et al., 2010). The disease manifests clinically with skin and mucosal eruptions of greasy, wart-like papules and plaques that are often malodorous. In addition, nail abnormalities and pitting of the skin on the palms and soles may be present to a variable degree. Rarely, DD will manifest with keratotic papules on the hard palate of the oral mucosa, but these lesions are generally asymptomatic. There is no cure for DD and the severity of symptoms may vary between family members and from generation to generation (Craddock et al., 1994).
It has been suggested that there is an association between the alleles that give rise to the DD phenotype and one or more of the susceptibility genes that predispose to major depressive disorder (MDD) and/or bipolar disorder (Cederlöf et al., 2015; Craddock et al., 1994; Gordon-Smith et al., 2010; Kennedy et al., 1995; Nakamura et al., 2016). Linkage maps have shown that the DD gene and a number of susceptibility genes for MDD and bipolar disorder are located in close proximity on Chromosome 12 (Green et al., 2005). As a consequence, the mutation in ATP2A2 may also impose a biological susceptibility to the development of neuropsychiatric disorders. Contributing factors such as physical disfigurement and social isolation may undoubtedly compound this risk to a variable degree (Craddock et al., 1994). Furthermore, the lifetime risk of an individual with DD developing a neuropsychiatric disorder may be as high as 50% (Craddock et al., 1994). Dermatology providers should be aware of the strong association of mood disorders in patients with DD and an objective assessment of the patients’ psychological well-being during every clinic visit should be performed as a facet of routine clinical care.
DD is estimated to have a worldwide prevalence of one to four per 100,000 (Cooper & Burge, 2003). Both the rarity of the disease and the wide geographic distribution of patients make it difficult to recruit these patients into clinical research. However, the information shared through social media represents an untapped opportunity for researchers and clinicians to communicate directly with potential research participants (Close, Smaldone, Fennoy, Reame, & Grey, 2013). Yet, Web-based data collection presents its own challenges. For example, there is an inherent bias in the subject population as underprivileged groups as well as more underdeveloped populations may lack access to the Internet and social media or lack familiarity with its use (Close et al., 2013). Likewise, potential respondents may not welcome unsolicited questions nor favor involvement of a person within their support group who does not share their diagnosis (Close et al., 2013). Participants may also question the researchers’ motives and may be less receptive to be recruited into a research study. Providing credentials and establishing validity of the study on social media outlets can be challenging but are crucial variables that must be addressed prior to any formal discussions.
We designed a study on DD utilizing social media to assess the frequency of mental health screening on dermatology clinic visits, lifetime prevalence of mood disorders, and proportion of patients who were subsequently referred to mental health services. This study highlights a novel approach for the recruitment of patients with rare diseases into clinical research or quality improvement projects.
Facebook is a social media platform that allows people aged 13 years and older, from around the globe, to create a public or private “profile” wherein they identify themselves and interact with other users by sharing comments, photos, videos, and discussing topics of interests (Facebook Help Center, Facebook, 2018). Users may connect directly with one another on Facebook by becoming “friends.” Users may set their profile privacy settings so that only their friends are able to see their posts, although posts may also be set to public so that they may be viewed by other users. (Facebook Help Center, Facebook, 2018). Members of discussion groups on Facebook are able to see posts within the group made by other group members, even if those other group members are not friends with the user (Facebook Help Center, Facebook, 2018). Groups may be either designated as “open” wherein any Facebook user can access the group or “closed” wherein only Facebook users who are group members may have access to group discussions (Facebook Help Center, Facebook, 2018). The group creator or other administrators control access to the group, approving or denying requests to join the group and ensuring that posts made by group members are appropriate (Facebook Help Center, Facebook, 2018). Once approved by an administrator, a member may “post” statements, questions, pictures, videos, documents, or links to outside Web sources. Members of a group who are not necessarily Facebook friends can thereby interact and discuss a topic within the confines of a group but otherwise maintain the privacy of their own personal Facebook accounts (Facebook Help Center, Facebook, 2018).
The Facebook group from which we sought participants for our study is entitled “Darier’s Disease, let’s know each other!!!” and was founded in February 2009 by a patient with DD (Facebook Groups, Facebook, n.d.). At the time that the survey was distributed, the group contained 225 members from at least 20 states in the United States and 20 different countries. The group is listed on Facebook with a “closed” membership security status to protect the identity of the members, as they may have voluntarily disclosed their diagnosis or a family member’s diagnosis on the group page. The purpose of the group is to discuss treatment successes and failures, share personal stories related to DD, and gain encouragement from other group members. The primary outcome of the survey was to assess patients’ perception of the management of dermatologic and psychiatric symptoms of DD as they have been managed by their current or past providers. We also attempted to assess the extent of involvement in screening for mental health comorbidities at dermatology clinic visits. Permission was obtained from the group administrator before posting the survey on the Facebook group. This survey study was approved by the University of Arkansas for Medical Sciences Institutional Review Board. All ethical procedures were followed in accordance with this committee in regard to data acquisition, storage, manipulation, patient anonymity, and publication.
Before the implementation of the study, the lead investigator contacted and requested membership in the Facebook DD patient support group. Once approved, the investigator introduced himself to the group and expressed the intent to distribute a survey among the group members. We allowed patients with DD and family members of any patient, including parents of pediatric patients and adult children of geriatric patients, to participate in the survey. However, participants were restricted to complete only one survey per individual. The survey was created via SurveyMonkey.com. A link to the survey, as well as a brief introductory message, was posted on the DD Facebook support group. This message emphasized the voluntary nature of the survey and provided assurance that no identifiable personal information from the patient/respondent. Consent to participate was given by completion and submission of responses to the survey form. Any participant who did not complete a survey was excluded for the sake of data analysis. The survey responses were obtained over a period of 5 weeks. The anonymous survey data were stored on the SurveyMonkey.com Web site and were username and password protected. Upon completion of data acquisition, we utilized the SurveyMonkey.com data analysis tool to compile the patient responses to create a data set that assessed for a correlation between participant demographics, DD severity/control, dermatologist follow-up, and association with comorbid mood disorders.
Thirty-three surveys were completed by the group members. The age of the participants ranged from 31 to 59 years. Eighty-seven percent of participants identified themselves as White/Caucasian, and the remaining identified themselves as of Australian ethnicity. Of the 33 participants, 31 elected to state their highest level of education achieved: 45% (13/31) had a high school diploma or equivalent, 22.5% (7/31) had completed some college or equivalent, 3% (1/31) had an associate degree, 22.5% (7/31) had a bachelor’s degree, 3% (1/31) had a master’s degree, and 3% (1/31) had a graduate degree. Eighty-eight percent (29/33) of the respondents identified as female. Most (52%) respondents first noted their cutaneous symptoms when they were between 11 and 15 years old (Table 1). In addition, most (21%) respondents were diagnosed with DD when they were either 11–15 or 31–35 years old. Eighty-seven percent (26/30) of the respondents stated that their dermatologist had provided the initial diagnosis of DD, whereas 13% (4/30) of the respondents reported that their primary care physician established the initial diagnosis of DD. Of the 30 participants who were given a diagnosis of DD, 87% (26/30) reported that a skin biopsy was required for diagnosis. Conversely, 13% (4/30) reported that they were given a DD diagnosis based on history and physical examination alone. Sixty-four percent (21/33) reported a documented family history of DD, whereas 36% (12/33) reported not having any family history of DD. Thirty-three percent (11/33) of the respondents did not require any disease-specific treatment during their lifetime. Thirty percent (10/33) of the respondents reported that their treatments were satisfactory, but could be improved (Table 1). Sixty-four percent (21/33) of the respondents sought regular care from a dermatologist to maximize control of their disease.
Seventy-eight percent of the respondents reported that the skin, hair, or nail mucosal lesions of DD make them feel down or depressed (Table 1). Yet, only 28% of the respondents reported having been formally diagnosed with MDD or BD. Fifty-three percent of the respondents reported that they were never assessed for mental health comorbidities during any dermatology clinic visit (Table 1). Only 22% of the respondents reported that they had rarely been screened for mental health comorbidities, whereas a large proportion (55% of the respondents) reported having sought mental health services for depression/anxiety related to their DD. Thirty percent of respondents reported that their DD has a minimal impact on their well-being, whereas another 30% reported that the disease has some impact on their quality of life (Table 1). Thirty-three percent of the respondents reported that their disease has a significant-to-severe impact on their quality of life. Only 6% of the respondents reported that their DD does not have any impact on their quality of life.
The cutaneous manifestations and neurobiological alterations that make up the DD phenotype can place patients at an increased risk for depression, anxiety, and other mood disturbances. Most cutaneous symptoms of DD are readily recognized and managed by dermatology providers. However, the mood disorders associated with the disease often go underrecognized or underreported and therefore remain untreated. Our study suggests that there is a need to screen for psychiatric disorders among patients with DD at every dermatology clinic visit. Dermatology clinic nurses and medical assistants have the unique opportunity to screen for symptoms of psychiatric disorders so that subsequent referrals to mental health providers can be made early in the treatment course. On the basis of reports that highlight the treatment failures of other dermatoses, it is well accepted that untreated psychiatric conditions can significantly impact the quality of life of these patients (Arbabi et al., 2011). Indeed, studies suggest that the presence of a psychiatric comorbidity can paradoxically result in an uncomfortable subjective perception of pruritus or pain, which may negatively affect treatment compliance (Arbabi et al., 2011). Given the biological predisposition to mood disorders and the implications imposed by cutaneous lesions, we believe that an assessment of quality of life at every clinic visit should be a standard procedure for all patients living with DD.
We found that most respondents regularly sought care with a dermatologist to manage their skin symptoms and most of these patients report that they are satisfied with the results of the treatments and/or interventions. Our study found that most dermatology clinic visits did not include a screening for mental health comorbidities. Furthermore, most of these patients had independently sought mental health services for anxiety/depression/mood symptoms secondary to their disease manifestations. Such findings are surprising given that these patients had been assessed by their dermatology providers or primary care providers during multiple clinic visits as part of their routine care. Further evidence to support the severity of mood disturbances of patients with DD is that a third of the respondents’ cutaneous symptoms severely limited or completely prevented their ability to do work or do things that they enjoyed.
Results obtained by the patient survey are subjective and should be regarded as such for the purposes of discussion. Furthermore, data obtained by the survey through social media have an inherent selection bias in that it will likely only sample those patients who have access to the Internet, a Facebook account, a willingness to join a Facebook support group, and a willingness to take a survey about their disease. Clearly, this is a specific and selective portion of the patient population, and the results obtained by this type of study may not be representative of the entire patient population on a global scale. These limitations do not diminish the importance of the data, but it is crucial that they be recognized and acknowledged so that the data can be interpreted appropriately. Future studies may seek to employ screening tools for mental illness within this patient population after recruitment of larger numbers of subjects through social media outlets.
To our knowledge, this is the first study that utilized Facebook as a resource to recruit and survey patients with DD. Furthermore, our study obtained subjective information on a multinational scale from multiple generations of patients with a rare disease. Such a broad range of participants is difficult to achieve with standard methods even at larger national healthcare centers. Facebook support groups provide an incredibly effective platform allows patients with rare diseases to meet, learn, and empathize with others who are combating a similar disease. These groups allow patients not only to connect to one another but also to interact with nurses, medical assistants, and physicians, thereby creating a potential venue for powerful patient-centered and patient-driven rare disease research collaborations (Gardner, 2016a, 2016b).
The Internet continues to connect our world and enhance the understanding of the human experience on a global level. Medical research must likewise evolve to embrace the Web-based opportunities to assess and develop new therapies, treatments, and quality improvement measures. We hope that this study highlights the utility of recruitment through social media and the need for clinical staff to initiate standardized screening forms as part of the patient-intake process to effectively and completely tailor care to better fit the needs of patients with DD.
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