Zeitschrift fur Rheumatologie最新文献

Patients with immune-mediated inflammatory diseases (IMID) are characterized by increased vulnerability to spinal trauma and distinct fracture patterns. Inflammatory alterations of periosseous soft tissues, along with impaired bone metabolism, lead to reduced mechanical resilience with unfavorable spinal alignment and biomechanics. A common denominator across IMID is secondary osteoporosis, which predisposes patients to pathological or fragility fractures, often triggered by low-impact trauma. Due to the heterogeneity of postinflammatory changes, ranging from focal structural destruction to long-segment ankylosis, the fracture morphology within this patient group varies considerably. From both a pathomechanical and therapeutic perspective, osteoporotic fractures must be clearly distinguished from fractures occurring in ankylosing diseases. Although reduced bone density and insufficient residual stability may endanger the spinal cord in the long run, fractures of a fused spine carry an acute risk of displacement and spinal cord injury, potentially resulting in paraplegia. Despite these differences, the therapeutic goal remains the same: to achieve a mechanically stable osseous bridging of the fractured segment. This article highlights the distinct challenges of fracture management in various IMID types compared to structurally healthy spines. This is illustrated based on two representative clinical cases.

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.

Immunoglobulin G4 (IgG4)-related diseases are a heterogenous group of chronic inflammatory systemic disorders characterized by fibrosing inflammation with infiltration of IgG4-positive plasma cells. They can affect nearly any organ system. Typical manifestations include autoimmune pancreatitis, sclerosing cholangitis, lymphadenopathy, retroperitoneal fibrosis, and inflammatory orbitopathy as well as involvement of the salivary and lacrimal glands. Each manifestation may present in isolation or in combination with others. Diagnosis requires careful exclusion of malignant or other inflammatory conditions, as IgG4-related diseases can mimic a wide range of disease entities. A multimodal approach combining laboratory findings, histopathological evaluation and radiological imaging is essential for establishing the diagnosis. A structured diagnostic algorithm and close interdisciplinary collaboration are crucial to avoid misdiagnosis and enable appropriate treatment.

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: STING-associated vasculopathy with onset in infancy (SAVI) is a rare monogenic autoinflammatory disorder. It is characterized by excessive interferon activity due to gain-of-function mutations in the STING1 gene, resulting in skin lesions and lung involvement. Some patients may also present with interstitial lung disease (ILD) only. While treatment with JAK inhibitors like baricitinib has shown some promise, long-term success is limited.

Case presentation: We report on a 10-month-old male suffering from respiratory distress since birth. He demonstrated failure to thrive and progressive ILD. The patient lacked skin lesions, arthritis, hepatosplenomegaly, lymphadenopathy, and any clues indicating vasculitis. Erythroid sedimentation rate was normal, and C‑reactive protein (CRP) was slightly elevated. However, CRP became elevated to 115 mg/L during the course of disease. Despite antibiotics and steroids, his condition deteriorated. Chest imaging revealed features suggestive of ILD, prompting further investigation. Whole-exome sequencing confirmed a heterozygotic c.461A > G (p.Asn154Ser) variant in the STING1 gene, thereby diagnosing the patient with SAVI. Despite treatment with baricitinib and tocilizumab, his condition worsened, and he ultimately passed away.

Conclusion: This case highlights that SAVI should be considered in the differential diagnosis of ILD, even without typical skin lesions.

Over the past 25 years, the results of treatment in pediatric rheumatology have greatly improved due to enormous developments in medical therapies. Today, reaching inactive disease or remission has become a realistic aim. Controlling inflammation and avoiding damage still remain the most important issues. Scores and tools for the measurement of disease activity have mostly been designed to be applicable in studies. Priorities may be different in a patient's perspective. This paper illustrates the different perspectives from a patient's and physician's view, thus, trying to describe the requirement, potentials, and limitations of shared decision-making in children, adolescents and young adults suffering from rheumatic diseases.

The non-interventional observational study employed both retrospective and prospective approaches to analyze the treatment reality of 114 patients with adult chronic non-bacterial osteitis (CNO) at three German university centers over the period 1985-2025. The primary objective was to characterize treatment courses among adult CNO patients in Germany for and to compare these with the international consensus recommendations published in 2024. According to these recommendations, nonsteroidal anti-inflammatory drugs (NSAIDs) are preferred as first-line therapies, whereas tumor necrosis factor inhibitors (TNFi) or bisphosphonates are advised as second-line options.The results indicate that although 61% of patients initially received NSAIDs, only 20% were treated at the recommended first-line dosage. In contrast, 46% of patients received conventional synthetic disease-modifying antirheumatic drugs (csDMARDs) as first-line therapy. Owing to their limited efficacy, csDMARDs are currently recommended only in selected cases with overlapping features of adult CNO and either axial spondyloarthritis (axSpA) or psoriatic arthritis (PsA). Our data demonstrate that overlap was present in 70% of the adult CNO cohort. As recommended, TNFi were the predominant second-line therapy (n = 32/86; 37%), whereas bisphosphonates were administered to only one patient.The observed therapeutic response, assessed by the rate of treatment discontinuation within 12 months, reached a maximum of 53%. These findings underscore the importance of current consensus recommendations in standardizing terminology and optimizing treatment strategies for CNO. However, the lack of a dedicated ICD-10 code and the absence of regulatory approval for the recommended therapeutic agents in Germany remain unresolved challenges.

The assessment of the earning capacity of patients with rheumatoid arthritis must be uniform, comprehensible, and reproducible. The aim of this monocentric retrospective cross-sectional study was to identify suitable assessments that have predictive value in relation to the prognosis for earning capacity. A total of 283 patients were included. Of these, 43 (15%; cohort 1) had a suspended or severely compromised earning capacity and 240 (84%; cohort 2) had a positive prognosis for their ability to work. The disease activity of cohort 1 was slightly higher than in cohort 2 (Disease Activity Score 28 [DAS28]: 2.4 ± 1.2 vs. 2.3 ± 0.8; p < 0.05, r = 0.11). Highly significant, clinically relevant differences were found in everyday activities (Hannover functional questionnaire [FFbH]: 61 ± 15 vs. 80 ± 14; p < 0.001, r = 0.38) and hand strength (19 ± 11 kg vs. 23 ± 10 kg, p < 0.001, r = 0.29). The 6‑minute walk test showed clear, clinically relevant differences (430 ± 89 m vs. 552 ± 84 m, p < 0.001, r = 0.32), as did the Timed-up-and-go-Test (TUG; 10.4 ± 4.5 s vs. 7.9 ± 3.9 s, p < 0.01, r = 0.35) and in the Chair-rising-Test (CRT; 23 ± 11 s vs. 11 ± 4.6 s; p < 0.001, r = 0.44). The scores for anxiety and depression were only slightly higher in cohort 1 than in cohort 2 (Patient Health Questionnaire 4 [PHQ-4]: 5.0 ± 3.2 vs. 4.0 ± 2.4, p < 0.001, r = 0.27), as were the scores for fatigue (Modified Fatigue Impact Scale [MFIS] psych: 2.9 ± 0.6 vs. 2.1 ± 0.8, p < 0.001, r = 0.34; MFIS cog: 2.3 ± 0.8 vs. 1.6 ± 0.9, p < 0.001, r = 0.25; MFIS psych-soc: 2.9 ± 0.8 vs. 1.8 ± 1, p < 0.001, r = 0.30). The erosion status (according to the Larsen score) did not differ significantly between cohorts 1 and 2. The data obtained indicate that the FFbH, 6‑minute walk test, TUG, CRT, and hand strength are particularly helpful in assessing the occupational prognosis of patients with rheumatoid arthritis.

Protocols concerning classification, monitoring and treatment were developed for the oligoarticular form of juvenile idiopathic arthritis (JIA) as part of a consensus process. The group of authors formulated 23 statements and circulated them in an online survey to medical members of the Society for Paediatric and Adolescent Rheumatology (GKJR). A total of 80 of the 124 paediatric and adolescent rheumatologists took part in the survey, which corresponds to just under 65% of the paediatric and adolescent rheumatologists who were active at the time. In a final online meeting, comments from the survey were incorporated into the statements and then agreed upon by the group of authors. For newly occurring oligoarticular JIA, 20 statements and a summary consensus treatment protocol were developed to optimise the treatment of persistent oligoarticular JIA.

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.