Zeitschrift fur Rheumatologie最新文献

Background: Type I interferons (IFN-I) are key mediators of antiviral immune defence and play an important role in the pathogenesis of many rheumatic systemic diseases. Their activity can be indirectly assessed by analyzing interferon-stimulated genes (ISGs) and summarized in a type 1 interferon score (IFN score).

Objective: The aim of this review article is to outline the biological background, methodological approaches, clinical applications and limitations of IFN scores in the management of rheumatic systemic diseases.

Material and methods: A narrative literature review was performed focusing on recent original studies and consensus papers addressing the role of IFN scores in connective tissue diseases, idiopathic inflammatory myopathies, rheumatoid arthritis, macrophage activation syndrome and monogenic interferonopathies.

Results: Numerous studies demonstrate increased IFN‑I signatures across different rheumatic diseases. The IFN score can be applied as a diagnostic, predictive and monitoring biomarker. In systemic lupus erythematosus and dermatomyositis, high IFN‑I activity is associated with more severe disease courses but also with better response to IFN-I-targeted treatment. In monogenic interferonopathies, IFN scores also provide an important diagnostic marker.

Conclusion: The IFN score represents a promising biomarker complementing conventional inflammatory parameters and supporting personalized treatment approaches. The broader clinical use is currently limited by methodological heterogeneity, lack of standardization and absence of validated cut-off values. Standardized protocols and prospective studies will be essential for routine clinical implementation.

Background: The treatment of systemic lupus erythematosus in childhood and adolescence (juvenile SLE) requires patient-oriented multidisciplinary care that takes the heterogeneity of the disease into account. For adults, adolescents and children, the treat to target (T2T) approach is becoming established as the basis for SLE treatment with the aim of achieving remission. This requires patients and families to be empowered to decide on treatment hand in hand with the care team through participatory decision making. The S2‑k guidelines on juvenile SLE enables a state-of-the-art care for patients with jSLE in routine clinical practice.

Aim of the article: The article explains the key areas of treatment management and the particular challenges in the care of jSLE patients based on these guidelines. A particular focus is placed on the actual implementation and interdisciplinarity.

Results and discussion: The recommendations of these guidelines were developed based on the T2T principle and participatory decision-making process by a multiprofessional team of experts in this field in accordance with the rules of the Association of Scientific Medical Societies in Germany (AWMF). The consensus comprises 2 core statements, 11 overarching principles (OAP), 12 overarching treatment strategies (OATS) and 40 recommendations. In addition to defining treatment goals, the clinical challenge is the development of treatment strategies that are in agreement with patients and their families. There is a lack of evidence in this area. This makes it all the more important to regularly revisit and evaluate both, taking the disease damage, medication side effects, comorbidities and the achievement of a good quality of life into account.

Background and objectives: The increasing importance of ultrasound in paediatric rheumatology is reflected in many scientific projects, in the increasing number of training courses and in its everyday use. Several international working groups have been working in the last few years to develop standardised examination protocols for joint sonography.

Materials and methods: The article summarises the current progress in ultrasound diagnostics in children and adolescents with rheumatic diseases, and discusses technical developments, improved training opportunities, the implementation in the treat-to-target management and the extension to other fields of application in paediatric rheumatology.

Results: To determine disease activity and to describe pathological findings, sonographic definitions were agreed upon, taking into account age-dependent changes in the musculoskeletal system, and first paediatric scoring systems were tested in validation studies. Several publications in the last few years have shown that joint sonography is superior to clinical examination in certain joint regions. Several studies have also demonstrated its important role in therapy and follow-up monitoring. Even outside of the joint regions, such as in the depiction of salivary glands or muscles, ultrasound is gaining increasing importance in paediatric and adolescent rheumatology.

Conclusion: Advances in technical development and expertise in the field of ultrasound have led to ultrasound becoming an important tool in the care of children and adolescents with rheumatic diseases.

Pyomyositis is an uncommon bacterial infection of skeletal muscle, typically associated with tropical regions but increasingly reported in temperate climates among immunocompromised individuals. Staphylococcus aureus is the most frequently identified pathogen, whereas enterococcal pyomyositis is exceedingly rare. This report describes a case of Enterococcus faecalis pyomyositis in a patient with long-standing rheumatoid arthritis (RA) receiving combined immunosuppressive therapy. The 62-year-old woman with an 8‑year history of RA presented with a 2-month history of progressive right shoulder pain, swelling, fever, and chills. She had been treated with methotrexate, adalimumab, and low-dose corticosteroids. Laboratory evaluation revealed marked leukocytosis and significantly elevated inflammatory markers. Contrast-enhanced magnetic resonance imaging demonstrated a large multiloculated abscess involving the perihumeral muscles. Surgical drainage was performed, and cultures grew Enterococcus faecalis. The patient showed rapid clinical and laboratory improvement following appropriate antibiotic therapy. This case represents the second reported instance of enterococcal pyomyositis in a patient with RA. The findings highlight the potential cumulative immunosuppressive effect of combined disease-modifying antirheumatic drugs and corticosteroids as a predisposing factor. Clinicians should maintain a high index of suspicion for rare but serious infections such as pyomyositis in immunosuppressed patients presenting with focal muscle pain and systemic symptoms, as early diagnosis and prompt intervention are crucial for favorable outcomes.

Since the introduction of the qualification for rheumatological specialist assistants (RFA) by the German Society for Rheumatology (DGRh) and the Professional Association of German Rheumatologists (BDRh) in 2006, this advanced training has become an established component of rheumatological care. Although more than 2000 medical assistants have since completed the RFA qualification, only limited data have been available on their professional situation after completion of the program. The aim of the present nationwide online survey was to assess the current professional situation, areas of activity, job satisfaction and career paths of RFAs in Germany.In October 2024 all graduates from 2006-2024 known to the Rheumatism Academy (Rheumaakademie, n = 677) were invited via email. A total of 263 individuals completed the questionnaire (response rate 39%), of whom 243 provided complete responses.At the time of the survey 81% (n = 199/245) of respondents were still working as RFAs, mostly in rheumatology practices (71%). Independent RFA consultation hours were conducted by 44% (n = 86) of participants, with most offering their own appointments, using defined procedures and having separate consultation rooms available. The main reasons cited for leaving RFA work were high workload, lack of development opportunities, and insufficient recognition. Nevertheless, 96% of those who had left the RFA role remained employed in the medical field.The results show that the RFA has become firmly established as a key component of rheumatological care in Germany; however, due to voluntary participation and limited reachability of all graduates, selection bias is likely and particularly RFAs no longer working in the profession may be underrepresented.To sustainably strengthen and retain this professional group, structural improvements are necessary, especially legal clarification of delegable tasks, the establishment of reimbursement options for RFA consultation hours and the development of advanced qualifications and career pathways.

High levels of C‑reactive protein (CRP) in systemic lupus erythematosus are not usually a sign of disease activity but more of a severe bacterial infection. Why this is the case, even though levels of interleukin‑6 (IL-6) the most important CRP stimulator, are high in active SLE, has long been an intriguing question. Newly published results now provide an answer: in combination with interferon-alpha (IFNα), IL‑6 causes the IL‑6 receptor to be shed, i.e. enzymatically cleaved from the cell membrane. The soluble receptors constitute an IL‑6 buffer that inhibit IL‑6 biological activity in plasma. As this prevents IL‑6 from stimulating liver cells, no CRP is induced there. When IL‑6 levels are extremely high in the context of infections (and rarely lupus serositis or arthritis), the buffering capacity is exceeded and the hepatocytes respond by producing CRP.

Background: Seropositive rheumatoid arthritis (RA) is linked to cardiovascular and pulmonary morbidity. Nevertheless, there is currently no standardized screening method for early detection of RA-associated interstitial lung disease (ILD).

Purpose: This study proposes using pulmonary function testing (PFT) combined with lung ultrasound (LUS) as additional and radiation-free method to screen for ILD inRF- and ACPA-positive RA patients. Particularly in light of the increased therapeutic options, early detection of RA-ILD is associated with better outcome.

Methods: We included 214 consecutive patients with diagnosed RF- and ACPA-positive RA in our prospective study. These patients underwent PFT including spirometry, body plethysmography, and cardiopulmonary exercise testing as well as ultrasound examination of the lungs and the heart.

Results: A total of 203 patients (mean age 59 ± 12 years, 24% male, 43% current or previous smokers) were examined. The overall average RA duration was 8 ± 7 years, with 32% of all patients suffering from an erosive disease course. In PFT, 60 patients (30%) showed a limitation in forced vital capacity (FVC) as well as a diffusion disorder, defined as FVC and diffusing capacity of the lung for carbon monoxide (DLCOc) ≤ 80%. Ultrasound changes were seen in 107 patients (53%), with 29% (n = 58) showing typical LUS patterns suspicious of ILD. In summary, ILD was suspected in almost 16% of patients (n = 32). With the combination of PFT and LUS, our ILD screening protocol achieves a high level of sensitivity (93%) and specificity of 72%.

Conclusion: Our study contributes to the growing body of evidence supporting the use of LUS for screening for RA-associated ILD. We propose that LUS, in conjunction with PFT, serves as a suitable imaging tool for ILD screening in RA.

Chronic nonbacterial osteomyelitis (CNO) and SAPHO (syndrome of synovitis, acne, pustulosis, hyperostosis, osteitis) syndrome are rare autoinflammatory diseases characterized by inflammatory manifestations of the skeletal system often accompanied by skin and less frequently intestinal and pulmonary involvement. Despite familial clustering being observed, the prevailing genetic causes are yet to be fully understood. This review article summarizes the current evidence on the genetic background of CNO. Rare functional variants in LPIN2, IL1RN, and FBLIM1 have been described in isolated individuals, suggesting monogenic inheritance, while more common susceptibility factors such as the HLA-B*27 allele and P2RX7 variants indicate a more complex mode of inheritance. Genetic overlaps with familial Mediterranean fever in the Turkish population and partial response of these CNO patients to colchicine could indicate a shared pathogenetic spectrum. In conclusion, the genetic architecture of CNO appears heterogeneous, encompassing susceptibility factors and, pathogenic variants with potential therapeutic implications. Lack of many solved cases underlines the necessity to perform further genetic research.