Adult chronic nonbacterial osteitis (CNO) is a rare autoinflammatory bone disease formerly described under heterogeneous terms, such as SAPHO (acronym for synovitis, acne, pustulosis, hyperostosis and osteitis) or sternocostoclavicular hyperostosis (SCCH). New international consensus recommendations now define adult CNO as a distinct nosological entity with osteitis as the obligatory hallmark. The disease typically presents as monofocal inflammation of the anterior chest wall; cutaneous manifestations are not obligatory. Overlaps with axial spondylarthritis (axSpA) or psoriatic arthritis (PsA) are recognized but uncommon (< 30% of cases). The diagnostics follow a structured algorithm involving clinical assessment, targeted laboratory diagnostics (including bone metabolism markers) and magnetic resonance imaging (MRI)-based imaging. Treatment decisions are based on the combined presence of clinical symptoms and radiological activity. A stepwise approach is recommended, starting with nonsteroidal anti-inflammatory drugs (NSAID), followed by intravenous bisphosphonates or tumor necrosis factor (TNF) alpha inhibitors in cases of insufficient response. Treatment monitoring should be carried out every 12 weeks. In stable remission, tapering or withdrawal can be considered. All specific therapies are performed off-label and require formal reimbursement approval. The management should be rheumatologically led and interdisciplinary. Lifestyle modifications, such as smoking cessation, physical activity and dental care during bisphosphonate therapy, are integral components. The new recommendations enable a clinically applicable, standardized management of this insufficiently defined disease. Die adulte chronisch nichtbakterielle Osteitis (CNO) ist eine seltene autoinflammatorische Knochenerkrankung, die bislang unter uneinheitlichen Bezeichnungen wie SAPHO (Akronym: Synovitis, Akne, Pustulosis, Hyperostose, Osteitis) oder SCCH (sternokostoklavikuläre Hyperostose) geführt wurde. Aktuelle internationale Konsensempfehlungen definieren die adulte CNO als eigenständige nosologische Entität mit der Osteitis als obligatem Leitbefund. Die häufig monolokulär auftretende Erkrankung betrifft vorwiegend die vordere Brustwand; Hautmanifestationen sind fakultativ. Überlappungen mit axialer Spondyloarthritis (axSpA) oder Psoriasisarthritis (PsA) bestehen, sind jedoch nicht die Regel (< 30 % der Fälle). Die Diagnostik folgt einem strukturierten Algorithmus aus klinischer Beurteilung, gezielter Labordiagnostik (inklusive Knochenstoffwechsel) und Magnetresonanztomographie(MRT)-basierter Bildgebung. Die Therapieentscheidung basiert auf der Kombination klinischer Symptomatik und radiologischer Aktivität. Ein stufenweises Vorgehen beginnt mit nichtsteroidalen Antirheumatika (NSAR), gefolgt von Bisphosphonaten intravenös (i.v.) oder TNF(Tumornekrosefaktor)-α-Inhibitoren bei unzureichendem Ansprechen. Therapieevaluation erfolgt regelmäßig im 12-Wochen-Intervall. Bei stabiler Remission sind Tapering und Auslassversuche möglich. Alle spezifischen Therapien erfolgen „off-label“ und bedürfen eines Kostenerstattungsantrags. Die Versorgung sollte rheumatologisch geführt und interdisziplinär abgestimmt erfolgen. Lebensstilmaßnahmen, insbesondere Rauchstopp, körperliche Aktivität und Zahngesundheit unter Bisphosphonaten, sind integraler Bestandteil. Die neuen Empfehlungen ermöglichen ein standardisiertes, klinisch praktikables Management dieser bislang unzureichend definierten Erkrankung.

Autoimmune diseases share a general mechanism of auto-antigens harming tissues. Still. they are phenotypically diverse, with genetic as well as environmental factors contributing to their etiology at varying degrees. Associated genomic loci and variants have been identified in numerous genome-wide association studies (GWAS), whose results are increasingly used for polygenic scores (PGS) that are used to predict disease risk. At the same time, a technological shift from genotyping arrays to next generation sequencing (NGS) is ongoing. NGS allows the identification of virtually all - including rare - genetic variants, which in combination with methodological developments promises to improve the prediction of disease risk and elucidate molecular mechanisms underlying disease. Here we review current, publicly available autoimmune disease GWAS and PGS data based on information from the GWAS and PGS catalog, respectively. We summarize autoimmune diseases investigated, respective studies conducted and their results. Further, we review genetic data and autoimmune disease patients in the UK Biobank (UKB), the largest resource for genetic and phenotypic data available for academic research. We find that only comparably prevalent autoimmune diseases are covered by the UKB and at the same time assessed by both GWAS and PGS catalogs. These are systemic (systemic lupus erythematosus) as well as organ-specific, affecting the gastrointestinal tract (inflammatory bowel disease as well as specifically Crohn's disease and ulcerative colitis), joints (juvenile ideopathic arthritis, psoriatic arthritis, rheumatoid arthritis, ankylosing spondylitis), glands (Sjögren syndrome), the nervous system (multiple sclerosis), and the skin (vitiligo).

In 2018 in France, overall mean health-related out-of-pocket (OOP) expenditures were 214.00€/year/patient. To evaluate OOP expenditures for psoriasis patients in France. Observational, cross-sectional, non-comparative, multicentre study in 3000 patients with clinically confirmed psoriasis who responded to a specific digital questionnaire collecting demographic and socio-economic characteristics, assessing the 3 domains (severity, psychosocial impact and past history and interventions) of the patient's Simplified Psoriasis Index (sa-SPI) and expenditures to manage psoriasis, including OOP. Multivariate linear regression was conducted to search for factors associated with higher OOP. In total, 2681 patients completed the questionnaire and, of those, 2562 provided clinically validated data. Overall, 60% were women; the mean age was 49.4 ± 14.8 years. 30% of the patients declared that they suffered from psoriatic arthritis. The final mean sa-SPI core was 10.86 ± 9.70. Of these 2562 patients, 243 (9.5%) had severe, 442 (17.3%) moderate and 1877 (73.3%) mild psoriasis. In addition, 932 (36.4%) patients reported facial involvement, 724 (28.25%) genital impairment and 1124 (43.8%) lesions on the limbs. Mean OOP expenditures to manage psoriasis per patient were 531.00€, 439.74€ ± 939.85€ for patients with mild, 791.06€ ± 1367.67€ with moderate and 1077.64€ ± 1680.14€ for patients with severe psoriasis. For patients with psoriasis in the genital area, the median amount of expenditures (251.17€; CI95% [138.35;363.99]) was significantly higher than that for the face (183.85€; CI95% [78.76;288.94]) or limbs (199.96€; CI95% [93.77;306.15); (P < 0.001). More than 90% of the patients had OOP expenditures for over-the-counter products (97.5%) and alternative care (92.0%), especially for emollients and/or hydrating products. In France, in 2019, OOP expenditures to manage psoriasis were on average more than twice as high as the overall mean health-related OOP expenditures estimated by the French Health Agency in 2018. These results should lead health authorities to review certain standards of healthcare reimbursement.

The collaborative initiative of the European Network of Pregnancy Registers in Rheumatology (EuNeP) aims to combine data available in nationwide pregnancy registers to increase knowledge on pregnancy outcomes in women with inflammatory rheumatic diseases (IRD) and on drug safety during pregnancy and lactation. The objective of this study was to describe the similarities and differences of the member registers. From all registers, information about their structure and design was collected, as well as which parameters regarding demographics, maternal outcomes, treatment, course and outcome of pregnancy, and development of the child were available in the respective datasets. Furthermore, the current recruitment status was reported. The four registers (EGR2 (France), RePreg (Switzerland), RevNatus (Norway), and Rhekiss (Germany)) collect information prospectively and nationwide. Patients can be enrolled before conception or during pregnancy. To date, more than 3500 patients in total have been included, and data on 2200 pregnancies with an outcome are available. The distribution of diagnoses in the respective registers varies considerably, and only three entities (rheumatoid arthritis, psoriatic arthritis, and spondyloarthritis) are captured by all the registers. Broad consistency was found in non-disease-specific data items, but differences regarding instruments and categories as well as frequency of data collection were revealed. Disease-specific data items are less homogeneously collected. Although the registers in this collaboration have similar designs, we found numerous differences in the variables collected. This survey of the status quo of current pregnancy registers is the first step towards identifying data collected uniformly across registers in order to facilitate joint analyses. Not applicable.