Delay to celiac disease diagnosis and its implications for health-related quality of life

<p>Abstract</p> <p>Background</p> <p>To determine how the delay in diagnosing celiac disease (CD) has developed during recent decades and how this affects the burden of disease in terms of health-related quality of life (HRQoL), and also to consider differences with respect to sex and age.</p> <p>Methods</p> <p>In collaboration with the Swedish Society for Coeliacs, a questionnaire was sent to 1,560 randomly selected members, divided in equal-sized age- and sex strata, and 1,031 (66%) responded. HRQoL was measured with the EQ-5D descriptive system and was then translated to quality-adjusted life year (QALY) scores. A general population survey was used as comparison.</p> <p>Results</p> <p>The mean delay to diagnosis from the first symptoms was 9.7 years, and from the first doctor visit it was 5.8 years. The delay has been reduced over time for some age groups, but is still quite long. The mean QALY score during the year prior to initiated treatment was 0.66; it improved after diagnosis and treatment to 0.86, and was then better than that of a general population (0.79).</p> <p>Conclusions</p> <p>The delay from first symptoms to CD diagnosis is unacceptably long for many persons. Untreated CD results in poor HRQoL, which improves to the level of the general population if diagnosed and treated. By shortening the diagnostic delay it is possible to reduce this unnecessary burden of disease. Increased awareness of CD as a common health problem is needed, and active case finding should be intensified. Mass screening for CD might be an option in the future.</p

Mass screening for celiac disease : a public health intervention from the participant perspective

Background  Celiac disease (CD) is a chronic disorder in genetically predisposed individuals in which damage to the small intestine is caused by eating foods containing gluten. The prevalence has been shown to vary from around 1-3%, but most people with CD are undiagnosed. An option for finding those with unrecognized CD would include screening the general population, i.e., mass screening. However, screening identifies a pre-disease or disease condition in people who are presumed healthy and have not sought help. Therefore, the impacts of the screening process and being diagnosed through screening should be explored before such a public health intervention is considered. A population-based CD screening study involving 12-year-olds was undertaken in Sweden and provided an opportunity to explore these issues related to CD screening. Aims To make inferences about the potential impacts mass screening for CD can have on participants by exploring experiences and outcomes for participants involved in CD screening study. Methods and Subjects  Both qualitative (short written narratives) and quantitative (questionnaires with EQ-5D instrument) methods were used. Children who participated in the CD screening study were invited to write narratives at the time of the screening, before screening results were known, describing their experience with the screening (n=240). The EQ-5D instrument was used to measure and compare health-related quality of life reported by participants at the time of the screening and one year after the screening-detected participants received their diagnosis (screening-detected n=103, referents n=483). Those with screening-detected CD were also invited to write narratives one and five years after their diagnosis. In these narratives the adolescents described how it felt to be diagnosed with CD, how it felt to live with CD, and if they thought all children should be screened (one-year follow-up n=91, five-year follow-up n=72). Results  Even though some children experienced fear and anxiety during the screening, overall they had, or were provided with, tools that allowed them to cope well with the screening. The health-related quality of life reported by those with screening-detected CD was similar before and one year after diagnosis (and similar to that of the referents). We also found that after five years of living with the diagnosis there had been maintenance and evolution in the beliefs and practices of these adolescents. Being detected through screening and the threat of complications impacted how they felt about the diagnosis, coped with the gluten-free diet, and what they thought about CD screening. Five years after the screening-detected diagnosis the adolescents have adjusted to the disease and adapted new habits and coping strategies to deal with the gluten-free diet. However, there are still those who doubt the accuracy and benefit of the diagnosis.   Conclusions  Our findings suggest that it is possible for participants to avoid excess anxiety during CD screening. However, there was not consensus among participants that being detected and treated had improved their health-related quality of life or that the immediate benefits outweighed the harm caused by being detected in this way. When considering mass screening, the affect on the participants is important to take into account and our findings shed light on some of the potential impacts a CD mass screening could have on participants

Internalizing the threat of risk : a qualitative study about adolescents' experience living with screening-detected celiac disease 5 years after diagnosis

BACKGROUND: Mass screening could identify those with unrecognized celiac disease (CD), but the experience of being detected through screening and living with screening-detected CD should be explored before considering this as acceptable intervention. For this study we invited screening-detected adolescents to describe their experience living with screening-detected CD five years after diagnosis with the aim to explore how their perceptions, practices, and beliefs evolved. METHODS: Adolescents who were diagnosed through a population-based CD screening were invited to write narratives after being diagnosed. Of 153 adolescents who were eventually diagnosed through the screening, 91 wrote narratives one year after diagnosis and 72 five years after diagnosis. A qualitative content analysis resulted in a theme and categories that describe the experience living with screening-detected CD five years after diagnosis. RESULTS: The overall theme - "Internalizing the threat of risk" - illustrates that being detected through screening and the internalized threat of future health complications have impacted how these adolescents felt about the diagnosis, coped with the gluten-free diet (GFD), and thought about CD screening. This theme is supported by four categories: maintaining an imposed disease identity describes how they continued to define their diagnosis in relation to the screening. They also expressed moving from forced food changes to adapted diet routines by describing habits, routines, coping strategies, and the financial burden of the GFD. They had enduring beliefs of being spared negative consequences, however, even after five years, some doubted they had CD and worried that being detected and eating a GFD might not be beneficial, i.e. "continuing to fear it is "all in vain". CONCLUSIONS: There was maintenance and evolution in the perceptions, practices, and beliefs of the adolescents after five years. Some have adjusted to the disease and adapted new habits and coping strategies to deal with the GFD, while others still doubt they have CD or that being detected was beneficial. The transition to adapting to the disease and GFD is ongoing, illustrating the importance of providing ongoing support for those with screening-detected CD as they adjust to this chronic disease and the GFD.Originally included in thesis in manuscript form.</p

Health-related quality of life in adolescents with screening-detected celiac disease, before and one year after diagnosis and initiation of gluten-free diet, a prospective nested case-referent study

BACKGROUND: Celiac disease (CD) is a chronic disorder in genetically predisposed individuals in which a small intestinal immune-mediated enteropathy is precipitated by dietary gluten. It can be difficult to diagnose because signs and symptoms may be absent, subtle, or not recognized as CD related and therefore not prompt testing within routine clinical practice. Thus, most people with CD are undiagnosed and a public health intervention, which involves screening the general population, is an option to find those with unrecognized CD. However, how these screening-detected individuals experience the diagnosis and treatment (gluten-free diet) is not fully understood. The aim of this study is to investigate the health-related quality of life (HRQoL) of adolescents with screening-detected CD before and one year after diagnosis and treatment. METHODS: A prospective nested case-referent study was done involving Swedish adolescents who had participated in a CD screening study when they were in the sixth grade and about 12 years old. Screening-detected adolescents (n = 103) and referents without CD who participated in the same screening (n = 483) answered questionnaires at the time of the screening and approximately one year after the screening-detected adolescents had received their diagnosis that included the EQ-5D instrument used to measure health status and report HRQoL. RESULTS: The HRQoL for the adolescents with screening-detected CD is similar to the referents, both before and one year after diagnosis and initiation of the gluten-free diet, except in the dimension of pain at follow-up. In the pain dimension at follow-up, fewer cases reported problems than referents (12.6% and 21.9% respectively, Adjusted OR 0.50, 95% CI 0.27-0.94). However, a sex stratified analysis revealed that the significant difference was for boys at follow-up, where fewer screening-detected boys reported problems (4.3%) compared to referent boys (18.8%) (Adjusted OR 0.17, 95% CI 0.04-0.73). CONCLUSIONS: The findings of this study suggest that adolescents with unrecognized CD experience similar HRQoL as their peers without CD, both before and one year after diagnosis and initiation of gluten-free diet, except for boys in the dimension of pain at follow-up

How do children experience participating in a coeliac disease screening? A qualitative study based on children's written narratives

Aim: To explore how 12-year-old Swedish children experienced being involved in a coeliac disease (CD) screening. Methods: A qualitative approach was used to analyse short narratives written by children who had taken part in a school-based CD screening. Narratives were written after blood sampling, but prior to learning of the test results. Through an oscillation between the texts, codes, subcategories and four categories, a theme was generated describing the children's experience. Results: The theme "A Journey towards Confidence" captures the overall experience of the screening. It illustrates that, although some children faced fear or anxiety, overall they had or were provided tools allowing them to cope well and experience a journey towards confidence. The categories describe conditions that contributed to the experience. The first, being involved, reflects the importance of involvement in receiving information and deciding to participate. Being a "good citizen" refers to feeling a duty to help and a trust to be treated fairly. Being able to cope with the screening was influenced by the children's ability to manage sensations and support received. The last category, being able to balance risk, illustrates that the children were able to balance the risks of screening when they had a realistic understanding of the disease and their vulnerability and had tamed their anxiety. Conclusions: This study increases the understanding of how 12-year-old Swedish children experienced participating in a CD screening and describes conditions important for a positive experience. We show that, although some children faced anxiety, they had, or were provided with, tools allowing them to cope well and gain confidence

Balancing health benefits and social sacrifices : a qualitative study of how screening-detected celiac disease impacts adolescents' quality of life

Background Celiac disease often goes undiagnosed. Mass screening might be an option to reduce the public health burden of untreated celiac disease. However, mass screening is still controversial since it is uncertain whether the benefits of early detection outweigh the possible negative consequences. Before implementation of screening programs, the experiences of those being identified as cases should be considered. The aim of our study was to explore how screening-detected celiac disease impacts adolescents' quality of life, as perceived by themselves and their parents. Methods All adolescents (n = 145) with screening-detected celiac disease found in a Swedish screening study, and their parents, were invited to share their experiences in a qualitative follow-up study. In total, we have information on 117 (81%) of the adolescents, either from the adolescents themselves (n = 101) and/or from their parent/s (n = 125). Written narratives were submitted by 91 adolescents and 105 parents. In addition, 14 focus group discussions involving 31 adolescents and 43 parents were conducted. Data was transcribed verbatim and analyzed based on a Grounded Theory framework. Results The screening-detected celiac disease diagnosis had varying impact on quality of life that related both to changes in perceived health and to the adolescents' experiences of living with celiac disease in terms of social sacrifices. Changes in perceived health varied from "healthy as anyone else with no positive change" to "something was wrong and then changed to the better", whereas experiences of living with celiac disease ranged from "not a big deal" to "treatment not worth the price". Perceptions about living with celiac disease and related coping strategies were influenced by contextual factors, such as perceived support from significant others and availability of gluten-free products, and were developed without a direct relation to experiencing changes in perceived health. Conclusions Screening-detected celiac disease has varying impact on adolescents' quality of life, where their perceived change in health has to be balanced against the social sacrifices the diagnosis may cause. This needs to be taken into account in any future suggestion of celiac disease mass screening and in the management of these patients.This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.</p