Zeitschrift fur Rheumatologie最新文献

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.

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: 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.

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.

Background: Demographic change and a growing shortage of healthcare professionals pose significant challenges to the German healthcare system. Rheumatology is particularly affected due to increasing patient demand and evolving societal expectations regarding work-life balance, family compatibility, and gender equity. As a result, flexible working time models are gaining importance.

Objective: This study aimed to assess existing and desired working time models in rheumatology, their feasibility, and perceived barriers from the perspectives of both employees and leadership.

Methods: The Commission of Equal Opportunities of the German Society for Rheumatology (DGRh) developed two online questionnaires targeting rheumatology healthcare professionals in employee and leadership roles asking about their current employment situation, existing flexible working time models, and preferences and feasibility of various working time models. The survey was distributed between September 2024 and March 2025 via the mailing lists of the DGRh and the Association of Rheumatological Acute Clinics (VRA), and via personal contacts by email, and subsequently evaluated descriptively.

Results: A total of 151 individuals participated (111 employees, 40 leaders). Part-time work, especially in outpatient care, was common and frequently desired. The 4‑day workweek and hybrid models (e.g., home office) were considered attractive but posed organizational challenges. Of the employees, 24% reported having changed jobs due to a lack of flexible options; 30% of leaders had lost staff for the same reason. Most respondents prioritized flexibility over reduced working hours.

Conclusion: Flexible working time models are generally desired and often feasible in rheumatology but require tailored implementation and structural support. They are essential for improving job satisfaction and staff retention and should be strategically promoted to ensure sustainable rheumatologic care.

Objective: Belimumab and anifrolumab are two biologic therapies currently employed in the management of systemic lupus erythematosus (SLE). Belimumab is approved for both SLE and lupus nephritis (LN), whereas anifrolumab is not currently approved for LN and has only been evaluated for LN in one published phase II trial. Direct head-to-head comparative data are lacking. This meta-analysis aims to indirectly compare the efficacy and safety of belimumab and anifrolumab using evidence from randomized controlled trials (RCTs).

Methods: We performed a comprehensive search of MEDLINE, Embase, and the Cochrane Central Register of Controlled Trials. Indirect comparative analyses were conducted using odds ratios (ORs) and hazard ratios (HRs) derived from clinical trial data comparing both belimumab and anifrolumab with placebo for SLE and LN. Primary endpoints included SRI‑4 response, SELENA-SLEDAI ≥ 4 reduction, corticosteroid dose reduction, incidence of severe flares, normalization of anti-dsDNA, and normalization of C3/C4 in SLE as well as complete renal response (CRR), renal event-free survival, and immunologic biomarkers in LN. Safety was evaluated based on the incidence of herpes zoster, serious infections, and mortality.

Results: Seven RCTs comprising 4332 patients treated with either belimumab or anifrolumab for SLE or LN were included in this meta-analysis. For SLE, belimumab demonstrated superior SRI‑4 response rates (OR = 1.99, 95% CI: 1.25-3.16) relative to anifrolumab, whereas anifrolumab yielded greater benefit in steroid tapering (OR = 0.31, 95% CI: 0.19-0.51) and immunologic normalization (anti-dsDNA: OR = 0.69, 95% CI: 0.43-1.10; C3/C4: OR = 0.69, 95% CI: 0.42-1.13). In LN, both agents improved CRR rates compared to placebo; however, indirect comparisons between the two agents were not definitive due to wide confidence intervals (CRR: OR = 0.83, 95% CI: 0.22-3.10). Safety profiles were similar in terms of serious infections and mortality, although anifrolumab was linked to higher rates of herpes zoster (7.2% vs. 3.2-4.6% for belimumab).

Conclusion: Belimumab confers greater benefit in terms of SRI‑4 response for SLE, while anifrolumab is more effective for corticosteroid tapering and immunologic parameter normalization. In LN, the comparative efficacy remains uncertain. Both agents exhibit similar safety profiles, but anifrolumab is associated with an increased risk of herpes zoster. Differences in study design, inclusion criteria, and assessment protocols among included trials may limit direct comparability.

Digital health applications (DHA) can provide exercise therapy, behavioral interventions or patient education. These interventions are of high relevance in axial spondyloarthritis (axSpA). Therefore, axSpA represents a potentially promising area of DHA usage; however, no DHA has yet been officially approved for axSpA. Currently, the medical apps Axia and RheCORD Plus are in the DiGA approval track. So far, published study results are only available for Axia and appear promising. In addition to these apps, DHAs such as ViViRA or HelloBetter Chronic Pain are being tested in axSpA, and initial study results also show positive effects in this context. The use of DHAs in axSpA thus shows promising potential, although further research is needed to evaluate long-term effectiveness, cost-effectiveness and user acceptance.

Dual-energy X‑ray absorptiometry (DXA) assessing the lumbar spine and bilateral proximal femurs is the current guideline-recommended standard method for quantitative measurement of bone density. The output of DXA-the T score-reflects the number of standard deviations by which the measured bone density differs from the average of a healthy young reference population. The operational World Health Organization (WHO) definition of osteoporosis is based on a T score ≤-2.5 at the femoral neck, although other measurement locations are interpreted analogously in clinical routine. Numerous studies have shown that a decrease in bone density is associated with an exponential increase in the fracture risk. However, consideration of the bone density in isolation is inadequate to predict the real fracture risk. Therefore, DXA results must always be interpreted within the context of other clinical risk factors. Additional DXA methods and further analyses can significantly improve the diagnostic accuracy.