Purpose Treatment for a chronic condition can pose a heavy burden on young people and affect their quality of life. The present study examined young people’s experiences with treatment burden and their coping strategies. Patients and Methods The body mapping method was employed, in which a life-sized outline of someone’s body is traced and populated with visual representations, symbols and words. For the present study, a digital tool for body mapping was developed. This is a chat robot which helps young people make a body map by asking questions about their lives, wellbeing and the influence of their treatment on this. In two series of three workshops, ten young people (16 to 25 years) with a chronic, somatic condition created individual body maps using this tool. The body maps were discussed in the group to obtain insight into experiences with treatment burden. The findings were analysed using thematic analysis. In all stages of the study, two adolescents with a chronic condition were involved as co-researchers. Results The results show that young people with a chronic condition experience considerable treatment burden. Although treatment reduces their symptoms, it also leads to physical and emotional side-effects, restrictions of meaningful activities, issues with future planning, reduced independence, and autonomy and loneliness. Young people apply several strategies to cope with this burden, such as seeking support from others, focusing on the positive, ignoring treatment advice, and seeing a psychologist. Conclusion Treatment burden is a subjective experience and not merely based on the number or types of treatment. It is therefore vital that young people with a chronic condition discuss their experiences with their care provider. This can help to tailor treatment decisions to their lives and needs.

Background Birt-Hogg-Dubé syndrome (BHD) is an inherited disease caused by pathogenic variants in the FLCN gene. One of the characteristics is the increased risk for spontaneous pneumothorax, likely due to the presence of pulmonary cysts mainly distributed under the carina. Due to variable expression and lack of awareness, BHD is likely to be underdiagnosed. We aimed to examine the prevalence of BHD in patients presenting with an apparent primary spontaneous pneumothorax and to evaluate the contribution of chest CT in establishing the diagnosis. Methods Patients who presented with apparent primary spontaneous pneumothorax between 2004 and 2017 in a large Dutch teaching hospital were enrolled in this quantitative cross-sectional study. A questionnaire was sent to eligible patients. Patients who completed the questionnaire and consented to further participation were invited to visit the hospital for genetic testing and low dose, volumetric chest CT. Results Genetic testing was performed in 88 patients with apparent primary spontaneous pneumothorax. Three patients were found to have a pathogenic variant in the FLCN gene (3.4%). No variants of unknown significance were detected. Pulmonary cysts were detected in 14 out of 83 participants with an available chest CT, six had more than one cyst. All three patients with BHD had multiple pulmonary cysts. Conclusions Based on previous literature and the present study, we believe that performing a chest CT in every patient presenting with primary spontaneous pneumothorax is justified. Subsequent genetic testing of the FLCN gene should be considered when multiple pulmonary cysts are present. Trial registration The study was registered at clinicaltrials.gov with reference NCT02916992. Summary at a glance Three out of 88 patients with an apparent primary spontaneous pneumothorax were diagnosed with Birt-Hogg-Dubé syndrome in this study and all three had multiple pulmonary cysts. We believe that performing a chest CT in every patient with an apparent primary spontaneous pneumothorax is justified to identify underlying diseases.

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Background Approximately 10% of ulcerative colitis (UC) patients undergoing ileal pouch-anal anastomosis (IPAA) are believed to develop ‘de novo Crohn’s disease’ (CD) of the pouch (1). Clear diagnostic criteria are lacking, but the diagnosis is mostly based on the development of fistula, strictures, treatment refractory disease, pre-pouch ileitis, or typical endoscopic findings fitting with CD, such as ulcers and patchy inflammation (1, 2). However, the findings on which this diagnosis is established may be caused by (unrecognized) surgical complications such as silent anastomotic leakage. It is important to distinguish these complications from what is truly a ‘de novo CD’ as treatment strategies differ in both groups. We aimed to investigate incidence rates and reasons for diagnosing CD of the pouch. Methods In total, 483 consecutive UC patients who underwent a proctocolectomy and IPAA in a tertiary IBD referral centre from January 1990 until December 2017 were retrospectively reviewed. Patients with a diagnosis ‘CD of the pouch’ were identified based on medical records, and could be based on either clinical, endoscopic, imaging and/or histological findings. Results Median follow-up time was 20 years (IQR 10 – 24). In 46 out of 483 patients (10%), de novo CD of the pouch was diagnosed, which was mostly based on endoscopic findings (29/46, 63%). Presence of pre-pouch ileitis was the most common reason to diagnose CD of the pouch, which was present in 18/29 patients (62%), followed by ulcerations in 6/29 (21%). On MRE, 19/46 (41%) patients had a fistula or sinus, 4/46 patients (9%) had a stricture (all proximal of the pouch). Interestingly, 12/46 patients (26%) never underwent cross sectional imaging after IPAA construction. Only ten patients (22%) showed histologic findings with a preference for CD in biopsies, revised colectomy specimen, and/or pouch excision specimen. Only two patients had granulomas, others showed signs of transmural inflammation, ulcerations or fibrosis. Other histologic findings were non-specific. Conclusion In our centre, 10% of patients were ‘diagnosed’ with de novo CD of the pouch. However, as confirmatory histological signs of CD were present in only 22%, chronic surgical complications as underlying cause might be of greater importance. It is advised to perform cross sectional imaging in every patient after a year after pouch construction to rule out silent leaks that might cause symptoms at a later stage mimicking Crohn’s disease, avoiding a diagnostic dilemma.