Reumatologia最新文献

Introduction: The importance of the kynurenine pathway in normal immune system function has led to an appreciation of its possible contribution to autoimmune disorders such as rheumatoid arthritis (RA). The aim of the study was to evaluate the effect of treatment with tumor necrosis factor α (TNF-α) inhibitors on the activity of the kynurenine pathway in patients with RA.

Material and methods: This was an investigator-initiated, prospective, observational study. The study was performed on 30 RA patients (Caucasian, 11 male, 19 female; mean age 45 ±16 years) treated with TNF-α inhibitors. All patients were assessed before and after 6 months of therapy. As a control group, age- and sex-matched, 20 healthy volunteers were recruited. Disease activity was evaluated by the Modified Disease Activity Score with 28-joint count (DAS28). Inflammatory markers were assessed routinely by the hospital central laboratory. Serum concentrations of kynurenine, serotonin and tryptophan were measured with specific immunoassays. To estimate indoleamine 2,3-dioxygenase (IDO) activity, kynurenine-to-tryptophan ratio was calculated.

Results: The results of our study showed changes in tryptophan metabolism in RA patients, compared with healthy controls. Surprisingly, RA patients had statistically significant decreased kynurenine-to-tryptophan ratio (p = 0.003), which could indicate diminished IDO activation in RA. Moreover, we found no significant changes in kynurenine-to-tryptophan ratio after treated with TNF-α inhibitors (p = 0.490), despite disease remission. Additionally, tryptophan metabolism activity did not correlate with objective markers of inflammation.

Conclusions: The RA patients had altered tryptophan metabolism, compared with healthy controls. The mechanisms affecting tryptophan metabolism in RA may be complex. We believe that continuing elucidation of pathophysiological pathways relevant in RA offer substantial hope for the development of specific pharmacotherapy for treatment of RA - especially for comorbidity of RA and depression.

Introduction: Antiphospholipid syndrome (APS) manifests with thrombosis and pregnancy losses and may significantly impair the health-related quality of life (HRQoL). So far, APS has been perceived as a less burdensome disease than systemic lupus erythematosus (SLE), but data on this are scarce. The purpose of the present study was to evaluate HRQoL in APS patients by applying the Short Form 36 Health Survey (SF-36) and World Health Organization Quality-of-Life Scale (WHOQoL-BREF); to examine the impact of primary APS and with coexisting SLE (APS/SLE) on patient HRQoL; and to provide a description of the APS patient population.

Material and methods: One hundred twelve patients with APS were included in the study, 57 of them with primary APS and 55 with coexisting SLE. HRQoL was measured by the 36-Item SF-36 and WHOQoL questionnaires.

Results: Mean age was 47 years (47.6 ±13.8), and 96 patients were (85.7%) women. The mean disease duration was 72 months. Health-related quality of life impairment was found in both components for all APS patients in comparison to the healthy Polish population (p < 0.0001). There was no difference between APS and APS/SLE groups in HRQoL (mental component p = 1.0, physical component p = 0.337). The history of venous thrombosis was associated with HRQoL impairment only in the APS/SLE group in the physical component (p = 0.0118), not in primary APS (p = 0.6862). The mental component of SF-36 was associated with all domains of WHOQoL-BREF, while the physical component was associated only with physical health (p < 0.001).

Conclusions: Primary APS and APS secondary to SLE lead to equal impairment in HRQoL. Diagnosis and proper management of all patients with APS are essential to prevent thrombosis and miscarriages, which ultimately will lead to longer survival with optimal life quality.

Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by high heterogeneity of clinical manifestations and an uncertain prognosis. Although the mortality rate due to SLE has decreased significantly in recent decades, there is still a need to find good tools to measure disease activity for early detection of exacerbations and treatment planning. Over the decades, more than a dozen disease activity scales/indicators have been developed, with the SLE Disease Activity Index (SLEDAI) being the most popular. More recently, the new SLE Disease Activity Score (SLE-DAS) has been introduced. This paper compares the two methods of assessing SLE activity, and presents the relevance of these scales in pregnant SLE patients and their use in formulating definitions of remission and low disease activity. The results show that the SLEDAI and the SLE-DAS are of comparable value in assessing SLE activity and complement each other.

Systemic autoinflammatory diseases caused by dysregulation of the innate immunity are a known cause of recurrent fevers. We present the molecular diagnosis results of 12 children with recurrent fever, analyzing the correlation between molecular findings and clinical symptoms. No pathogenic variants confirming autoinflammatory disease were found. One child was diagnosed with SRP54 deficiency, linked to congenital neutropenia with a cyclic pattern. Variants of uncertain significance were found in 6 patients in genes associated with autoinflammatory disorders, though two lacked clinical correlation. Variants of uncertain significance in the NLRC4 gene were detected in 2 patients with periodic fever, aphthous stomatitis, pharyngitis, adenitis (PFAPA) syndrome, in the PLSG2 gene in 1 child with systemic juvenile idiopathic arthritis, and in the MEFV gene in 1 patient with syndrome of uncertain recurrent fever. COVID-19 was identified as a triggering factor in 54.5% of cases. Further research is needed to clarify the role of genetic variants and environmental factors in recurrent fevers.

H syndrome (HS) is a rare autosomal recessive genodermatosis characterised by cutaneous hyperpigmentation, hypertrichosis, sclerodermatous thickening, and multisystemic involvement. It results from mutations in the SLC29A3 gene encoding the human equilibrative nucleoside transporter 3, leading to impaired histiocyte apoptosis and unchecked proliferation. We report the case of a 24-year-old Moroccan male who had a history of insulin-dependent diabetes mellitus. He developed hyperpigmented skin patches with hypertrichosis and induration. Musculoskeletal findings included bilateral hallux valgus, pes planus, reducible flexion contractures of the proximal interphalangeal joints, and restricted ankle dorsiflexion. Additional findings consist of lymphadenopathy, hepatomegaly, hypogonadism, and ophthalmic manifestations. Investigations showed elevated sedimentation rate, anaemia, and osteopaenia. Ankle ultrasound revealed calcaneal enthesopathy and subcutaneous infiltration. In reporting this case, we aim to highlight the significant rheumatological involvement that can arise in patients with H syndrome and explore potential treatment options to improve the musculoskeletal findings.

The presence of chronic liver diseases such as metabolic dysfunction-associated steatosis liver disease, viral hepatitis, and cirrhosis may affect the treatment plan in patients with rheumatologic disorders, with concern about the adverse effects of the rheumatic medications on the course of liver disease. Advanced liver disease can change the elimination and activation of many drugs. In addition, there are concerns about the risk of viral reactivation after using biologics and immunosuppressants in patients with chronic viral hepatitis. This narrative review will assess the considerations that should be made before starting the most frequently used drugs in all common rheumatic diseases and patients with chronic liver diseases including chronic viral hepatitis.

Introduction: The aim of the study was to investigate the associations between the presence and level of rheumatoid factor (RF) in the blood serum and the clinical and laboratory characteristics of patients with systemic lupus erythematosus (SLE).

Material and methods: This retrospective tricentric cross-sectional study analyzed a Ukrainian contingent of SLE patients. Medical records of 495 patients were evaluated. Rheumatoid factor serum concentration was tested in 206 of them (41.6%) using turbidimetry technique. Clinical manifestations, routine laboratory parameters, specific immunological tests, disease activity (SLEDAI-2K), and damage indices (SLICC/ACR DI) were evaluated.

Results: Our study revealed that RF was elevated in 27.7% of patients. The RF-positive patients experienced a longer delay in SLE diagnosis (2.0 vs. 0.5 years, p = 0.046), less frequent kidney involvement (42.1% vs. 59.4%, p = 0.045) and fever (42.1% vs. 59.2%, p = 0.046), and more frequent lymphadenopathy (59.6% vs. 42.3%, p = 0.039) compared to RF-negative patients. Patients with RF positivity had higher levels of C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), and antinuclear antibody (ANA) titer, and were more frequently positive for antibodies to Ro/SSA and La/SSB. Rheumatoid factor concentration directly correlated with CRP (r = 0.318; p < 0.01) and ESR (r = 0.228; p = 0.04) levels. However, no associations were found between RF levels and SLEDAI-2K, joint involvement frequency, SLICC/ACR DI or drug therapy content. Univariate logistic regression analysis showed that RF positivity was independently associated with lymphadenopathy, presence of anti-Ro/SSA and anti-La/SSB antibodies, and negatively associated with kidney involvement.

Conclusions: In RF-seropositive SLE patients (approximately 28%), the diagnosis is established later compared to RF-seronegative ones; kidney involvement and fever are less common, while lymphadenopathy develops more frequently. Rheumatoid factor seropositivity is associated with higher levels of ESR, CRP, ANA, and the presence of antibodies to Ro/SSA and La/SSB. According to the results of univariate logistic regression analysis, an independent association with RF positivity was confirmed only for kidney involvement, lymphadenopathy, and antibodies to Ro/SSA and La/SSB.

Introduction: Ocular involvement is quite common in Behçet's disease (BD) and may cause crucial functional complications. Even though the mechanisms of BD remain unclear, advances in genetic and immunological fields have improved our understanding of the immunopathogenesis of BD ocular involvement. Little is known about the expression of a proliferation-inducing ligand (APRIL) in terms of ocular involvement in BD. The objective of this study was to determine whether serum APRIL concentrations are associated with ocular involvement in patients with BD.

Material and methods: The study included 60 patients diagnosed with BD matched by age and sex to 30 healthy individuals. Every patient underwent a clinical evaluation, and the Behçet's Disease Current Activity Form (BDCAF) was utilized to quantify disease activity. All patients underwent a comprehensive ophthalmological assessment. Serum APRIL was assessed for patients as well as controls.

Results: One or more ocular manifestations were found in 42 BD patients (70%), while 18 patients (30%) had no ocular involvement. The mean level of serum APRIL levels was markedly elevated in BD patients, particularly those with ocular involvement, compared to both BD patients without ocular involvement and healthy individuals. A statistically significant association was determined between high APRIL concentration and development of uveitis, cataract, and hypopyon. Cutaneous lesions and arthritis were strong independent predictors for ocular involvement in BD patients.

Conclusions: Overexpression of APRIL in patients with BD, particularly in terms of uveitis, cataract, and hypopyon, lends credence to the idea that B cell activating factors have an important function in BD. These findings may indicate that serum APRIL concentrations can differentiate a clinical subgroup of BD patients with ocular disease. As a result, finding a new therapeutic strategy targeting the APRIL pathway might be beneficial in BD patients suffering from ocular involvement.