Katrina Nordyke

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

BackgroundTo 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.MethodsIn 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.ResultsThe 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).ConclusionsThe 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.

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

BackgroundCeliac 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.MethodsA 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.ResultsThe 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).ConclusionsThe 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.

Health-related quality-of-life in children with coeliac disease, measured prior to receiving their diagnosis through screening

Objective To compare the health-related quality-of-life (HRQoL) of children with screening-detected coeliac disease (CD), before they learned of their diagnosis, with that of children without CD and in those previously diagnosed with CD. Methods In a cross-sectional CD screening study (‘ETICS’: Exploring the Iceberg of Coeliacs in Sweden), of 10,041 Swedish 12-year-olds invited, 7567 (75%) consented to participate, and 7208 (72%) children without previously diagnosed CD had serological markers analysed. Before the screening results were known, 7218 children (72%) and 6524 of their parents (65%) answered questionnaires. Questionnaires included the Swedish child-friendly pilot version of the EQ-5D instrument and proxy version of the EQ-5D instrument, which are generic tools used to describe HRQoL. Results We found no significant difference in HRQoL between the groups of children with screening-detected CD, without CD, and those previously diagnosed with CD. Conclusion The HRQoL reported by 12-year-olds with screening-detected CD, before they learned of their diagnosis, was not worse than that of the children without CD or those previously diagnosed with CD. Thus, mass screening for CD should not be justified on the basis that children with unrecognized CD have a poor HRQoL. However, because these children rated their HRQoL before diagnosis and treatment, they may not have recognized or perceived symptoms as severe enough to seek medical attention which demonstrates how difficult clinical/active case finding can be. Mass screening may still, therefore, be considered if the aim is early detection and prevention of future complications.

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.

Relaxation and guided imagery used with 12-year-olds during venipuncture in a school-based screening study

Needle-related procedures are reported to be problematic for children. In a school-based celiac disease screening, 12-year-olds’ experiences with relaxation and guided imagery (R-GI) during venipuncture were investigated. One group tried nurse-led R-GI (n = 60) and another group received standard care (SC; n = 49). A mixed method design was applied using short written narratives, facial affective scale (FAS), and visual analog scale (VAS) for pain intensity. Qualitative content analysis highlighted that diversity and contradictions when facing blood tests. FAS scores were significantly lower in the SC group before (p = 0.01), during (p = 0.01), and after (p = 0.01) venipuncture. VAS scores did not differ between the groups. The blood test was mostly experienced as unproblematic, and GI during venipuncture did not decrease pain or affect. However, the fact that a number of children scored high FAS indicates a need for effective methods to help children cope with needle-related school-based procedures.

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

BackgroundMass 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.MethodsAdolescents 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.ResultsThe 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”.ConclusionsThere 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.

655 Health-Related Quality of Life in Adolescents With Screening-Detected Celiac Disease: Assessments Before Diagnosis and After One Year With Gluten-Free Diet

G A A b st ra ct s diabetes, 1st degree relative with CD, autoimmune diseases) accounted for the remainder. Only 43.2% of indicated CD screening was performed; luminal GI clinic tested 53.5%, IBD clinic tested 39.2%, hepatology tested 27%, and biliary clinic tested 34.3%. Anti-tissue transglutaminase IgA was performed in 68.7% (0.04% abnormal), quantitative IgA level in 48.2% (0.05% abnormal), antigliadin antibody in 30.1% (0.02% abnormal), endomysial antibody in 44% (0.04% abnormal), and deamidated gliadin peptide in 12% (all normal). Duodenal biopsy was performed by the referring doctor in 36%, after serology in 9%, and before serology in 8.4% of patients. Of 166 patients screened, 4 patients (2.4%) had serology consistent with CD, of which 2 were proven by duodenal biopsy. Using this proportion, an additional 4 patients could have been diagnosed in 170 unscreened patients. Based on our results, need for testing is highest in the luminal GI and IBD clinics, followed by biliary, and lowest in hepatology (p<0.0001). Screening rate is highest in luminal GI clinic (p= 0.002). CONCLUSIONS: Greater than half of patients seen in a tertiary GI clinic have indications for CD screening, but less than half of indicated cases are actually screened. Case-finding techniques are therefore suboptimal, constituting a gap in patient care and an important target for future quality improvement initiatives. The value of screening may be enhanced in populations with higher prevalence of CD.