Familial Segregation of Venous Thromboembolism in Sweden: A Nationwide Family Study of Heritability and Complex Segregation Analysis

Background This is the first nationwide segregation analysis that aimed to determine whether familial venous thromboembolism (VTE) is attributable to inheritance and/or shared environment, and the possible mode of inheritance. Methods and Results The Swedish Multi‐Generation Register was linked to the Swedish patient register for the period 1964 to 2015. Three generational families of Swedish‐born individuals were identified. Heritability was examined using Falconer regression. Complex segregation analysis was conducted using the Statistical Analysis for Genetic Epidemiology software (version 6.4, 64‐bit Linux). Among the 4 301 174 relatives from 450 558 pedigrees, 177 865 (52% women) individuals were affected with VTE. VTE occurred in 2 or more affected relatives in 61 217 (13.6%) of the pedigrees. Heritability showed age and sex dependence with higher heritability for men and young individuals. In 18 933 pedigrees, VTE occurred only in the first generation and was not inherited. Segregation analysis was performed in the remaining 42 284 pedigrees with inherited VTE and included 939 192 individuals. Prevalence constraints were imposed in the models to allow for the selection of the pedigrees analyzed. The sporadic nongenetic model could be discarded. The major‐type‐only model, with a correlation structure compatible with some polygenic effects, was the preferred model. Among the Mendelian models, the mixed codominant (plus polygenic) model was preferred. Conclusions This nationwide segregation analysis of VTE supports a genetic cause of the familial aggregation of VTE. Heritability was higher for men and younger individuals, suggesting a Carter effect, in agreement with a multifactorial threshold inheritance.

Respiratory infections during lithium and valproate medication: a within-individual prospective study of 50,000 patients with bipolar disorder

Background In vitro studies have demonstrated that lithium has antiviral properties, but evidence from human studies is scarce. Lithium is used as a mood stabilizer to treat patients with bipolar disorder. Here, the aim was to investigate the association between lithium use and the risk of respiratory infections in patients with bipolar disorder. To rule out the possibility that a potential association could be due to lithium’s effect on psychiatric symptoms, we also studied the effect of valproate, which is an alternative to lithium used to prevent mood episodes in bipolar disorder. Method We followed 51,509 individuals diagnosed with bipolar disorder in the Swedish Patient register 2005–2013. We applied a within-individual design using stratified Cox regression to estimate the hazard ratios (HRs) of respiratory infections during treated periods compared with untreated periods. Results During follow-up, 5,760 respiratory infections were documented in the Swedish Patient Register. The incidence rate was 28% lower during lithium treatment (HR 0.73, 95% CI 0.61–0.86) and 35% higher during valproate treatment (HR 1.35, 95% CI 1.06–1.73) compared with periods off treatment. Conclusions This study provides real-world evidence that lithium is associated with decreased risk for respiratory infections and suggests that the repurposing potential of lithium for potential antiviral or antibacterial effects is worthy of investigation.

Sociodemographic changes in the population frequency of colonoscopy following the implementation of organised bowel cancer screening: An analysis of data from Swedish registers, 2006–2015

Objective To assess sociodemographic changes in the population frequency of colonoscopy (PFC; number of colonoscopies per 1000 inhabitants per year) among people aged 50–74 in relation to the implementation of a regional colorectal cancer screening programme for people aged 60–69 in the Stockholm-Gotland region (RSG) in 2008. Method The PFC was estimated by year (2006–2015), pre- and post-implementation of colorectal cancer screening programme (2006–2007 vs. 2014–2015), age, sex, residential region, immigrant status and educational level. The data were obtained from Swedish patient and population registers. Results The PFC largely increased during 2006–2015 in all six Swedish regions. The estimated increase in the pre- vs. post period PFC (ΔPFC) within the RSG was (i) greater for men than for women (5.8 vs. 4.5) and (ii) smaller for people aged 70–74 than for those aged 60–69 (5.5 vs. 9.0), while the corresponding ΔPFCs within each of the other regions were (i) not greater, or even smaller, for men and (ii) not smaller, or even larger, for elderly people aged 70–74. Conclusion A regional implementation of an organised colorectal cancer screening programme did not lead to a higher PFC increase in the screening relevant age group 50–74 years. Nevertheless, changes in the PFC were more pronounced for men and less pronounced for people aged 70–74 than those invited to participate in the screening programme (60–69 years), as compared with the rest of Sweden (without organised colorectal cancer screening).

PARE0010 THE VR DOCTOR – THE IDEAL DOCTOR’S APPOINTMENT

Background:With new technology available, health care is evolving quickly, and new solutions are constantly being presented. Although few of these solutions focus on patient-participation and patient empowerment. That’s what we wanted to create! Using virtual reality, we figured we could prepare and empower patients before meeting their doctor – and also giving doctor’s a chance to see what it’s like sitting across the table.Objectives:The main objective was to show an example of how an ideal visit to the doctor could look like, to empower patients. By knowing their rights and what kind of care they are entitled to, we wanted to make patients more prepared and feel safer and more comfortable before a doctor’s appointment. The experienced is based on the Swedish Patient Act. We also wanted to be able to show health care professionals what it’s like being a patient, and giving them the opportunity to try it out.Methods:We teamed up with fellow patient organizations Proud Bellies (Stolta Magar) and Youth with Psoriasis (Ung med Psoriasis), pharmaceutical company AbbVie and e-health company Cambio to create the virtual reality experience. Together we workshopped what the ideal doctor’s appointment would be like, based on the Swedish Patient Act, and wrote the script. Our example doctor’s visit is generic, meaning all of our three organizations could use it even though we represent different diseases and diagnoses. But we also created three other virtual reality experiences. They are disease specific, and one is for RA. In the film, you get to go inside the joint to see what happens when you have rheumatism, while a speaker explains it to you.Results:We launched the VR Doctor in January of 2019 with a great event. Patients, health care professionals, press and others were gathered and got to try a visit to the VR Doctor. It was very-well received, especially by other patients. Since then, we have used the tool during our member activities such as summer camps, to empower our members. And we have introduced the tool for health care professionals at several rheumatology clinics throughout Sweden.Conclusion:With new technology comes great opportunities to simplify complicated matters. The VR Doctor is essentially a crash course in the Swedish Patient Act, making it a very useful tool for both patients and health care professionals. By giving an example of what an ideal doctor’s appointment could be like, we are letting patients take matters into their own hands and bringing them a sense a power and control over a situation that normally could be tough and sometimes intimidating. With empowered patients who feel safe, we are one step closer full patient-participation and in the long run a better health care system for all.References:[1]https://vrdoktorn.se/[2]https://ungareumatiker.se/vr-doktorn-starker-patienter-i-motet-med-varden/[3]https://www.youtube.com/watch?v=FMw9XmyVh0g[4]https://www.youtube.com/watch?v=xz056alBBkc&t=1sDisclosure of Interests:None declared

Respiratory infection during lithium and valproate medication: a within-individual prospective study of 50,000 patients with bipolar disorder

ObjectiveIn vitro studies have demonstrated that lithium has antiviral properties, but evidence from human studies is scarce. Lithium is used as a mood stabilizer to treat patients with bipolar disorder. Here, the aim was to investigate the association between lithium use and the risk of respiratory infections in patients with bipolar disorder. To rule out the possibility that a potential association could be due to lithium’s effect on psychiatric symptoms, we also studied the effect of the most common alternative to lithium to prevent mood episodes in bipolar disorder, valproate.MethodWe followed 51,509 individuals diagnosed with bipolar disorder in the Swedish Patient register 2005–2013. We applied a with-individual design using stratified Cox regression to estimate the hazard ratios (HRs) of respiratory infections during treated periods compared with untreated periods.ResultsDuring follow-up, 5,760 respiratory infections were documented in the Swedish Patient Register. The incidence rate was 28% lower during lithium treatment (HR 0.73, 95% CI 0.61–0.86) and 35% higher during valproate treatment (HR 1.35, 95% CI 1.06–1.73) compared with periods off treatment.ConclusionsThis study provides real-world evidence that lithium protects against respiratory infections and suggests that the repurposing potential of lithium for antiviral effects is worthy of investigation.

Risk of Stroke in Patients With Atrial Fibrillation Is Associated With Stroke in Siblings: A Nationwide Study

Background It remains unclear whether heritable factors can contribute to risk stratification for ischemic stroke in patients with atrial fibrillation (AF). We examined whether having a sibling with ischemic stroke was associated with increased risk of ischemic stroke and mortality in patients with AF . Methods and Results In this nationwide study of the Swedish population, patients with AF and their siblings were identified from the Swedish patient registers and the Swedish MGR (Multi‐Generation Register). Ischemic stroke events were retrieved from the Swedish patient registers and CDR (Cause of Death Register). Risk of ischemic stroke was compared between patients with AF with and without a sibling affected by ischemic stroke, AF , or both ischemic stroke and AF . The total study population comprised 113 988 subjects (mean age, 60±12 years) diagnosed with AF between 1989 and 2012. In total, 11 709 of them were diagnosed with a first ischemic stroke and 20 097 died during a mean follow‐up time of 5.5 years for ischemic stroke and 5.9 years for mortality. After adjustment for covariates having a sibling with ischemic stroke, or both ischemic stroke and AF , was associated with increased risk of ischemic stroke (hazard ratio, 1.31; 95% CI, 1.23–1.40 or hazard ratio, 1.36; 95% CI , 1.24–1.49, respectively). Furthermore, ischemic stroke in a sibling was associated with all‐cause mortality (hazard ratio, 1.09; 95% CI , 1.05–1.14). In contrast, the risk of stroke was only marginally increased for patients with AF with a spouse affected by ischemic stroke. Conclusions Having a sibling affected by ischemic stroke confers an increased risk of ischemic stroke and death independently of traditional risk factors in patients with AF.

Juvenile idiopathic arthritis and risk of cancer before and after the introduction of biological therapies

BackgroundThe risk of cancer, including any secular trends in risk, in patients with juvenile idiopathic arthritis (JIA) is incompletely understood.MethodsWe performed a register-based cohort study of patients with JIA from 2001 until 2017, identified via the Swedish Patient Register. Patients with JIA were matched to five population reference subjects. Patients and referents were followed up for incident cancers (via linkage to the Swedish Cancer Register) until 18 years of age or 31 December 2016.ResultsAmong the 6721 patients with JIA, we observed 10 incident malignancies (5 lymphoproliferative cancers) during 34 951 person-years of follow-up, corresponding to an excess incidence of 0.09 cancers per 1000 person-years (one extra case per 11 000 patients per year), an HR for cancer (all sites) of 1.4 (95% CI 0.7 to 2.9) and an HR for lymphoproliferative malignancies of 3.6 (95% CI 1.1 to 11.2). The rates of cancer in JIA did not increase over the study period. We noted no differences in the excess risk comparing periods before and after the introduction of biologic disease-modifying antirheumatic drugs (bDMARDs).DiscussionChildren and adolescents with JIA are at a slightly increased risk of lymphoproliferative (but not of other) malignancies. At the group level, there is no sign that this risk has increased further after the introduction of bDMARDs.

Quality of Websites about Long-Acting Reversible Contraception (Preprint)

BACKGROUND Long-acting reversible contraception are recommended for those who wish to prevent unintended pregnancies. Use of the Web for information about contraception is widespread, but there is a risk that patients come in contact with sources of low quality. OBJECTIVE The overarching aim was to investigate the quality of websites about long-acting reversible contraception. METHODS Swedish patient-oriented websites were identified through searches in Google (n=46 included websites). Reliability and information about treatment choices was assessed by two assessors with the DISCERN instrument, transparency was analyzed with the Journal of the Medical Association benchmarks, completeness was assessed with content analysis, and readability was analyzed with Readability Index. RESULTS The mean DISCERN was 44.1 (SD 7.7) for total score, 19.7 (SD 3.7) for reliability, 22.1 (SD 4.1) for information about treatment choices, and 2.3 (SD 1.1) for overall quality. A majority of the included websites had low quality concerning if it included information when the information was produced (87%), if it was clear which sources that were used to compile the publication (78%), and if it provided additional sources of support and information (66%). Less than half of the websites adhered to any of the JAMA benchmarks. We identified 23 categories of comprehensiveness. The most frequent was treatment mechanism, which was covered by 39 (85%) websites. The least frequent was when treatment may be initiated following an abortion, which was covered by 3 (7%) websites. Mean Readability Index was 42.5 (SD 6.3, Range 29-55) indicating moderate or difficult readability levels. CONCLUSIONS The quality of patient-oriented websites about long-acting reversible contraception is poor. There is an undeniable need to support and guide laypersons that intend to use web-based sources about contraceptive alternatives, so that they may reach informed decisions based on sufficient knowledge.