ARP Rheumatology最新文献

Purpose: Bone biopsy is the only technique capable of comprehensively assessing all bone parameters, including turnover, microarchitecture, and mineralization, yet its clinical utility is debated. This study evaluates its role in routine diagnostic and therapeutic applications.

Methods: A retrospective analysis was conducted on 22 horizontal transiliac bone biopsies from 20 patients referred for rheumatology consultation between August 2016 and May 2022. Diagnoses included osteoporosis, adynamic bone disease, hyperparathyroidism-related bone disease, and osteomalacia.

Results: Histopathological findings led to therapeutic strategies differing from standard anti-osteoporotic treatment in over one-third of cases. In certain cases, bone biopsy provided critical diagnostic insights that guided therapeutic decisions.

Conclusion: Although advancements in non-invasive diagnostics exist, bone biopsy remains indispensable for a subset of patients, offering essential diagnostic and therapeutic insights that significantly influence clinical management.

Introduction: Pregnancy in women with connective tissue diseases (CTDs), including systemic lupus erythematosus (SLE), systemic sclerosis (SSc), primary Sjögren's syndrome (pSS), and undifferentiated connective tissue disease (UCTD), poses significant risks for adverse outcomes. Evaluating these risks and outcomes is essential to improve maternal and fetal health.

Objectives: This study aimed to assess pregnancy outcomes in patients with CTDs, identify factors associated with adverse outcomes, and evaluate the protective effects of hydroxychloroquine (HCQ) treatment.

Methods: A study covering the period from 1990 to 2022 was conducted. Data were collected from medical records of childbearing-age women with SLE, SSc, pSS, and UCTD who were under care at our clinic. Obstetric, maternal, and fetal outcomes were analyzed across different diagnoses. Statistical analyses were performed to identify associations between disease activity, treatments, and pregnancy outcomes.

Results: A total of 295 patients (125 with SLE, 50 with SSc, 80 with pSS, and 40 with UCTD) and 465 pregnancies were included. The mean age at first pregnancy was 29.1±9.1 years. Pregnancy loss occurred in 21% of cases, while 77% resulted in live births. Adverse outcomes included preterm delivery (8%), postpartum hemorrhage (6%), and preeclampsia (5%). SLE diagnosis (OR 1.5, 95% CI [1.1-4.8], p = 0.03), double/triple antiphospholipid antibody (APL) positivity (OR 2.3, 95% CI [1.1-3.9], p = 0.04), and active disease (OR 3.4, 95% CI [1.8-5.2], p = 0.004) were identified as risk factors for adverse pregnancy outcomes. HCQ treatment demonstrated a protective effect (OR 0.34, 95% CI [0.05-0.72], p = 0.0004).

Conclusion: Two-thirds of pregnancies in women with CTDs resulted in live births, though SLE was associated with significantly higher risks. Active disease during pregnancy emerged as a major risk factor. Importantly, the use of HCQ was associated with a notable reduction in these risks, underscoring its protective role in improving pregnancy outcomes. These findings highlight the critical importance of preconception counseling, careful disease management, and the proactive use of HCQ to minimize complications and optimize outcomes in pregnancies complicated by CTDs.

Aims: Interstitial lung disease (ILD) represents a common complication of connective tissue diseases (CTD). Early detection of ILD is critical since patients often remain asymptomatic during the initial stages. While numerous studies have proposed various ultrasound protocols for ILD evaluation, we find these protocols to be time-consuming in our clinical practice. The aim of this study is to introduce a concise lung ultrasound protocol for the screening of pulmonary fibrosis.

Methods: We conducted a prospective observational pilot study involving 28 patients followed in consultation for ILDs. By implementing this streamlined protocol, we established correlations between ultrasound findings at specific locations and their corresponding tomographic patterns. Following the assessment of the protocol's diagnostic accuracy, a multidisciplinary meeting was convened to scrutinize ultrasound images from several patients and evaluate the level of agreement among rheumatologists, pulmonologists, and radiologists.

Results: Our simplified protocol revealed significant correlations between ultrasonographic pleural irregularity, discontinuity and the number of B-lines, and the tomographic findings of reticulation and honeycombing in both the upper and lower lung regions. This protocol demonstrated high sensitivity and positive predictive value in identifying reticulation and honeycombing, as well as remarkable specificity and negative predictive value for the latter. The results obtained between the specialties showed strong agreement.

Conclusion: Preliminary results suggest a role of ultrasound to detect peripheral manifestations of fibrotic ILDs, such as reticulation and honeycombing. This assessment protocol can be adopted effectively by clinicians, such as rheumatologists, to evaluate lung involvement by CTDs. A larger study is necessary to achieve more robust and generalizable results as a screening tool.

Tophaceous gout can present with aggressive tophi causing destruction of the soft tissues, joints, and bones (1,2). A 68-year-old male presented with intense pain in the upper and lower limbs persisting for several weeks. He reported no limb weakness or history of trauma. The patient's medical history included severe tophaceous gout, chronic renal insufficiency, and heart failure. The patient had a poor social condition. On physical examination, he exhibited poor hygiene, cachexia, and dehydration. Active drainage of gout tophi was observed. The normal anatomy of the hand was lost due to joint destruction and fusion of the interdigital spaces (see figure 1 - panel A). Also, a giant tophus can be observed in the first finger of the left hand as well. The patient displayed limited range of motion in the wrists, fingers, and elbows, with hindered mobilization of knees, ankles, and feet due to pain. Subsequent blood tests revealed anemia, leucocytosis with neutrophilia, serum creatinine of 2.68 mg/dL, blood urea nitrogen of 147 mg/dL, and C-reactive protein (CRP) of 15.4 mg/dL. X-rays of the hands (figure 2), elbows, and feet revealed multiple "punched-out" erosions with sclerotic margins, indicative of massive bone and joint destruction. Appropriate wound dressing was provided, and the patient was initiated on antibiotics, corticosteroids, and urate-lowering therapy. While CRP and anemia showed slight improvement, patient began to refuse nutrition, his renal function declined, and he died 10 days after admission. To the best of our knowledge, this represents an extremely rare case of joint fusion resulting from tophaceous gout, attributed to untreated aggressive disease and challenging social circumstances. In such instances, a multidisciplinary approach that includes healthcare professionals, social workers, and mental health experts is essential.

Environmental mycobacteria, or nontuberculous mycobacteria (NTM), include over 170 species, with few frequently affecting humans. M. haemophilum, a slowly growing acid-fast bacillus, is known to cause various infections in immunocompromised patients. We present a case of a 29-year-old female with systemic lupus erythematosus, under immunosuppressive treatment, who developed disseminated skin lesions. Initially presenting with painful erythematous nodules that ulcerated, her condition was initially attributed to lupus. A skin biopsy revealed chronic granulomatous inflammation positive for acid-fast bacilli, leading to treatment for what was thought an infection by M. abscessus. Molecular sequencing later identified M. haemophilum, prompting a switch to a regimen of rifampicin, isoniazid, ethambutol, and levofloxacin, resulting in clinical improvement and lesion remission. M. haemophilum infections are more common in severely immunocompromised patients, often involve dermal lesions, and require accurate diagnosis through a combination of histological, molecular, and culture methods. Immunosuppressive therapy in autoimmune diseases predisposes patients to NTM infections. While tuberculosis infection can be screened and managed preemptively, no equivalent protocols exist for NTM, making close monitoring of immunosuppressed patients crucial for early detection and treatment.

Aims: Ankylosing spondylitis (AS) is a chronic disease characterized by inflammation of the spine and joints. This study aimed to examine the multifidus (MF) and erector spinae (ES) muscles in AS patients using magnetic resonance imaging (MRI), and to evaluate the clinical implications of muscle findings.

Methods: This study included 43 patients and 40 matched controls. The total (TCSA), functional (FCSA), relative CSAs, and ratios of MF and ES muscles were compared between the groups. The Visual Analog Scale, Bath Ankylosing Spondylitis Metrology Index (BASMI), Bath Ankylosing Spondylitis Functional Index (BASFI), Ankylosing Spondylitis Disease Activity Score with CRP, Ankylosing Spondylitis Disease Activity Score with ESR, Bath Ankylosing Spondylitis Activity Index, and Ankylosing Spondylitis Quality of Life Questionnaire (ASQoL) scores of AS patients were recorded. Comparisons between the two groups were made using the Student's t-test and the Mann-Whitney U test.

Results: The TCSAs of the MF and ES were similar in the two groups. In contrast, MF relative FCSA (p = 0.003), ES relative FCSA (p < 0.001), ES FCSA (p = 0.017), MF FCSA/TCSA (p < 0.001), and ES FCSA/TCSA (p < 0.001) were decreased in AS patients. ES FCSA/TCSA was negatively correlated with BASMI (r = - 0.369, p = 0.015), while MF FCSA/TCSA was negatively correlated with BASMI, BASFI, and ASQoL (r = - 0.395, p = 0.009; r = - 0.321 p = 0.036; r = - 0.387, p = 0.010, respectively).

Conclusions: The paravertebral muscle morphology significantly deteriorates in AS patients, exhibiting decreased functional muscle areas and increased fatty degeneration.

Introduction: Introduction: Interstitial lung involvement (ILD) is one of the main complications in patients with systemic sclerosis (SSc), representing a significant cause of mortality. According to previous reports, ILD can appear in many patients from early stages (eSSc) to patients with established disease without skin involvement (ssSSc).

Methods: Patients were included in the ssSSc group if they met the ACR/EULAR 2013 classification criteria and had a Rodnan skin score 0. In the eSSc group, if they did not meet the former criteria but fulfilled the VEDOSS criteria. Patients must have undergone a high-resolution chest CT scan within the last six months. Experts in this complication reviewed the images, and the percentage of patients with ILD in each group was determined. A univariate and multivariate analysis was performed to determine potential risk factors for ILD, including conventional risk factors and clinical findings in both groups. Odds Ratios and their 95% confidence intervals were estimated. Statistical significance was considered when p was less than 0.05.

Results: Data from 353 patients with SSc: 65 (18.4%) with ssSSc, and 75 (21.2%) eSSc (VEDOSS patients) were included in the study. The proportion of patients with ILD was 38% in the ssSSc group and 20% in VEDOSS patients group (p=0.03). Regarding risk factors, anticentromere antibody positivity was found to have a protective effect (OR 0.17, 95% CI 0.03-0.44, p=0.001), and anti-SCL-70 antibody presence was identified as a risk factor for ILD (OR 35.8, 95% CI 2.6-492, p=0.007). No association was found with male gender, digital ulcers, puffy fingers, or capillaroscopic findings.

Conclusions: ILD in patients with SSc can occur from early stages or without skin involvement. Thus, an active search for ILD is warranted, as it can be present in 1 out of 5 patients with these disease subsets.

Spondyloarthritis is a group of inflammatory rheumatic diseases characterized by inflammation of the spine and sacroiliac joints. Extra-musculoskeletal manifestations may also occur, although kidney involvement is rarely reported. Immunoglobulin A nephropathy is one of the most common types of glomerulonephritis, and it can be primary or associated with various diseases, such as SpA. Several cases have been reported, mostly through case reports and small case series, pointing to a possible common pathophysiology between these two diseases. However, there is scarce information on the prevalence of renal involvement, particularly Immunoglobulin A nephropathy, among Spondyloarthritis Portuguese patients. We present 5 cases of Immunoglobulin A nephropathy in patients with Spondyloarthritis, resulting from a multicentre Portuguese collaboration, accompanied by a systematic literature review to understand this possible association.