Zeitschrift fur Rheumatologie最新文献

A 46-year-old female patient had been suffering from multiple symptoms such as arthralgia, myalgia, general fatigue, exhaustion, concentration problems, forgetfulness, difficulty falling asleep and sleeping through the night and depression since the age of 27 years old. Rheumatological preliminary findings revealed rheumatoid arthritis with a lack of response to basic treatment as well as secondary fibromyalgia. Supplementary metabolic examinations were carried out in the case of laboratory tests for hypouricemia, which showed massively increased xanthine levels in the urine. With normal renal function and unremarkable urine sediment, small concrements were sonographically visualized in the renal pelvic calyceal system on both sides. The diagnosis of xanthinuria was made. This is a rare hereditary disorder of purine metabolism with a lack of conversion of hypoxanthine via xanthine to uric acid via the enzyme xanthine oxidoreductase. Clinical courses range from asymptomatic to symptomatic urolithiasis with increased renal xanthine excretion and myalgia with intramuscular xanthine deposits. In addition, non-specific arthralgia and progressive renal insufficiency are described during the course of the disease. Clinically, the overlapping symptoms of fibromyalgia and xanthinuria make it impossible to reliably differentiate between the two entities.

Background: Familial Mediterranean fever (FMF) is the most frequent monogenic autoinflammatory disease in Germany. Genetic testing for Mediterranean FeVer (MEFV) variants is essential for diagnostic confirmation, although its impact on therapeutic decisions remains largely unclear.

Objective: Investigation of the correlation between MEFV variant type and disease course as well as the need for treatment escalation with Interleukin (IL)-1-Inhibitors.

Material and methods: In this study 59 pediatric FMF patients with at least one MEFV variant were included, classified according to INFEVERS and assigned to four cohorts based on the pathogenicity of the variants. Clinical features, colchicine dosage, and use of IL-1-Inhibitors were analyzed.

Results: Cohort 1 with two pathogenic or probable pathogenic variants, showed the longest time delay until diagnosis despite a high genetic burden and low symptom frequency. Of the patients 31% received anakinra and 15% canakinumab. Cohort 2 included patients with one pathogenic or probable pathogenic variant combined with a variant of uncertain or benign significance and had the earliest disease onset; no patient received biologics. In cohort 3, with one confirmed pathogenic variant, two patients (7%) received anakinra followed by canakinumab. Cohort 4 with only variants of uncertain or benign significance, showed mild disease courses under colchicine treatment.

Conclusion: Pathogenic MEFV variants, particularly in homozygous or compound-heterozygous form, were associated with earlier onset of symptoms, longer delay in diagnosis and greater therapeutic need. Early genetic testing could support targeted treatment escalation.

Osteoporosis as well as renal, pulmonary, and cardiovascular diseases must always be considered in the treatment of patients with inflammatory rheumatic diseases. Regardless of whether they are an organ manifestation of the underlying rheumatic disease, a medication side effect, or a comorbidity, these diseases have a decisive influence on morbidity, mortality, and therapeutic decisions. Osteoporosis and renal diseases require increased vigilance from the treating rheumatologist, as they are often initially asymptomatic. The following article provides guideline-based recommendations for monitoring and treating patients with inflammatory rheumatic diseases and comorbid osteoporotic or renal disease.

The remitting seronegative symmetric synovitis with pitting edema (RS3PE) syndrome is a rare inflammatory rheumatic disease of older adults, which can also be paraneoplastic. The main symptom is a rapidly progressing symmetric edematous swelling of both hands, sometimes also both feet, accompanied by (teno-)synovitis. Autoimmune serologies (rheumatic factor, antibodies against cyclic citrullinated peptides, antinuclear antibodies) typically remain negative. When a diagnosis of RS3PE is made, age-appropriate screening investigations for malignancies should be carried out. In addition, a comprehensive history should be taken and physical examination should be performed focusing on signs of neoplasia, followed by further investigations if necessary. The RS3PE syndrome typically shows an excellent response to treatment with glucocorticoids. A drug-free remission is frequently achieved but sometimes treatment with disease-modifying antirheumatic drugs (DMARDs) is necessary.

Background: Comics are increasingly being discussed as an innovative means of communication in healthcare. In rheumatology there has so far been a lack of studies on the acceptance and potential use of medical comics.

Aim of the study: The aim of this study was to determine the acceptance of medical comics among rheumatologists and to evaluate their potential for use in clinical practice.

Material and methods: At the German Rheumatology Congress 2024 a total of 8 medical comics designed jointly in advance by patients and artists were exhibited. Congress participants were able to take part voluntarily and anonymously in a standardized online survey. Sociodemographic data, assessments of the comprehensibility and usefulness of the comics and their potential usability in everyday clinical practice were recorded.

Results: A total of 94 people took part in the survey, 58.5% of whom had a specialist medical qualification. The exhibition was rated with a Net Promoter Score of 37.2%. The understanding effect was rated at 6.3 ± 2.7 and the potential to promote public awareness at 8.4 ± 1.8 (scale 0-10). Of the participants 78.7% could imagine displaying the comics in their practice or clinic and 63.8% were in favor of their use for therapy and diagnosis clarification.

Discussion: The results show a high level of acceptance of comics among healthcare professionals and confirm their potential for use in education and communication. A structured further development of German language, medically validated comic formats appears to make sense.

Objective: The objective of this meta-analysis was to assess the relationships of the systemic immune-inflammation index (SII) and the systemic inflammation response index (SIRI) with systemic lupus erythematosus (SLE) and to determine the correlation of these indices with disease activity as measured by the Systemic Lupus Erythematosus Disease Activity Index (SLEDAI).

Methods: We performed a systematic search of Medline, Embase, and the Web of Science databases to identify eligible studies. Standardized mean differences (SMDs) were calculated to compare SII and SIRI between individuals with SLE and healthy controls. Pooled correlation coefficients were used to estimate the strength of the associations between SII, SIRI, and SLEDAI scores.

Results: Eleven studies qualified for inclusion in the meta-analysis. The aggregated analyses indicated that SII was markedly higher in SLE patients than in healthy controls (SMD 0.961; 95% CI 0.632-1.291; p < 0.001), a finding that remained consistent irrespective of data type, study sample size, or lupus nephritis status. Similarly, SIRI was elevated in those with SLE (SMD 0.761; 95% CI 0.320-1.203; p = 0.001). Analysis of correlation revealed that SII had a statistically significant positive association with SLEDAI scores (correlation coefficient 0.322; 95% CI 0.146-0.478; p < 0.001), supporting its value as a marker of increased disease activity. In contrast, SIRI did not present a significant association with SLEDAI (correlation coefficient 0.133; 95% CI -0.119 to 0.369; p = 0.302).

Conclusion: This meta-analysis provides evidence that both SII and SIRI are significantly increased in patients with SLE compared to healthy controls, supporting their utility as inflammatory biomarkers in SLE. Additionally, SII demonstrated a moderate positive correlation with disease activity, emphasizing its relevance for evaluating SLE severity.