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1.
J Dermatol ; 2024 Jul 12.
Article in English | MEDLINE | ID: mdl-38995193

ABSTRACT

Psoriatic arthritis (PsA) is characterized by multi-joint involvement, primarily affecting the small joints in the hands and feet. However, the specific pattern of joint involvement at an individual level remains uncertain. This study aimed to elucidate the pattern of joint involvement in a PsA cohort. Patients diagnosed with PsA were recruited for this cross-sectional study. Demographic, clinical, laboratory, personal and family history, and comorbidity data were collected. Descriptive statistical analysis was performed, and univariate and multivariate regression models were used to examine baseline factors influencing joint involvement. A total of 264 PsA patients (156 males) were included in the study. The results revealed a predominant involvement of peripheral facet joints. The second proximal interphalangeal joint (PIP) of the right hand exhibited the highest prevalence of swelling (18.9%), while the right knee joint had the highest prevalence of tenderness (24.2%). Older age and earlier onset of PsA were identified as independent factors associated with the swelling of the second PIP of the right hand. Older age, earlier onset of PsA, lower Psoriasis Area and Severity Index and higher Dermatology Life Quality Index scores were identified as independent factors associated with the tenderness of the right knee joint. In conclusion, the most commonly affected joints in PsA are the second PIP of the right hand and the right knee joint.

3.
Article in English | MEDLINE | ID: mdl-38724227

ABSTRACT

OBJECTIVE: Arthritis is associated with a worse prognosis in established systemic sclerosis (SSc). However, knowledge about its relevance in very early SSc (veSSc) is scarce. We aimed to assess the prevalence and phenotype of arthritis, as well as its prognostic impact, in patients with veSSc. METHODS: We analysed patients with veSSc, defined as presence of Raynaud's phenomenon and/or at least one of: puffy fingers, antinuclear antibodies (ANA), abnormal capillaroscopy, not fulfilling the ACR/EULAR classification criteria for SSc at baseline. We investigated associations between arthritis and clinical parameters, followed by a longitudinal analysis to investigate arthritis as a potential predictor of progression towards established SSc. RESULTS: We included 159 patients, of whom 108 had at least one follow-up visit. SSc-related arthritis occurred in 22/159 (13.8%) patients at baseline. Arthritis was mostly seronegative, symmetrical, oligo- or polyarticular, non-erosive, and rarely associated with elevation of inflammatory markers. More than half of the patients needed treatment with DMARDs. Anti-centromere antibodies were negatively associated with arthritis (OR: 0.707, 95% confidence interval 0.513-0.973, p = 0.033). Overall, 43/108 (39.8%) patients with follow-up progressed to established SSc during the observation time. Arthritis was not a significant predictor for progression to established SSc in a multivariable Cox regression. CONCLUSION: In this first comprehensive analysis, we found a similar prevalence of arthritis in veSSc as seen in established SSc. Moreover, the use of DMARDs indirectly suggests a relevant disease burden.

4.
Lupus ; 33(6): 638-643, 2024 May.
Article in English | MEDLINE | ID: mdl-38491423

ABSTRACT

OBJECTIVE: To determine the effect of subclinical synovitis on the progression of joint disease in a cohort of patients with systemic lupus erythematosus over a mean follow-up of 10 years. METHODS: A longitudinal follow-up of 96 patients diagnosed with lupus was performed. All patients were considered clinically free of joint disease or with minimal joint impairment at baseline and were studied through ultrasound study of their dominant hand to assess the prevalence of subclinical synovitis. Now, over 10 years after we contacted them and reviewed their evolution to determine the impact of had or had not been diagnosed with subclinical synovitis in their current joint condition. RESULTS: Thirty-one of the 91 reached patients developed clinical progression in their joint manifestations (at least one ordinal degree of worsening). Of these, 23 (74,9%) had demonstrated subclinical synovitis at baseline. In the group of patients who did not progress clinically, 46 (76,6%) did not have this finding at the start of follow-up (p < .01, OR 9,44 95%CI 3,46-25,74). The patients in whom clinical progression was demonstrated had worse combined ultrasound scores than the rest of the patients: 6,41 SD 1,45 vs. 1,15 SD 0,97 (p < .01). CONCLUSIONS: The finding of subclinical synovitis in patients with systemic lupus erythematosus is associated with the development of joint disease progression both clinically and ultrasonographically.


Subject(s)
Joint Diseases , Lupus Erythematosus, Systemic , Synovitis , Humans , Lupus Erythematosus, Systemic/complications , Lupus Erythematosus, Systemic/epidemiology , Synovitis/diagnostic imaging , Synovitis/epidemiology , Synovitis/etiology , Ultrasonography , Disease Progression
5.
Int J Rheum Dis ; 27(3): e15097, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38439176

ABSTRACT

AIM: To investigate the association of large joint involvement (LJI) with disease activity and drug retention in patients with rheumatoid arthritis (RA) who started receiving a biological disease-modifying antirheumatic drug or Janus kinase inhibitor. METHODS: Patients with RA from a Japanese multicenter observational registry were enrolled. Our definition of large joints included the shoulder, elbow, hip, knee, and ankle joints. Linear mixed-effects models were used to examine changes in the clinical disease activity index (CDAI) score at Week 24 as the primary outcome, and drug retention rates were compared between patients with and without LJI using Cox proportional hazards models. We examined the potential effect modifications of changes in the CDAI by baseline characteristics. RESULTS: Overall, 2507 treatment courses from 1721 patients were included (LJI, 1744; no LJI, 763). Although LJI was associated with significantly higher changes in CDAI from baseline at Week 24 (difference in change in CDAI: -5.84 [-6.65 to -5.03], p < .001), CDAI was significantly higher in patients with LJI over time. Retention rates were similar in both groups. The association of LJI with changes in disease activity was more prominent in patients with a short disease duration, negative anti-citrullinated peptide antibodies, and interleukin-6 receptor inhibitor (IL-6Ri) use. CONCLUSION: Although LJI was associated with a greater reduction in disease activity from baseline, higher disease activity at baseline was not offset over time in patients with LJI, demonstrating that LJI is an unfavorable predictor. An early treat-to-target strategy using an IL-6Ri may be beneficial for patients with LJI.


Subject(s)
Antirheumatic Agents , Arthritis, Rheumatoid , Janus Kinase Inhibitors , Humans , Janus Kinase Inhibitors/adverse effects , Cohort Studies , Arthritis, Rheumatoid/diagnosis , Arthritis, Rheumatoid/drug therapy , Ankle Joint , Antirheumatic Agents/adverse effects
6.
Rheumatology (Oxford) ; 63(7): 1803-1814, 2024 Jul 01.
Article in English | MEDLINE | ID: mdl-38281070

ABSTRACT

OBJECTIVES: To characterize joint involvement (JI) in sarcoidosis, a systematic search of MEDLINE, EMBASE and Cochrane Library was conducted from inception to July 2022 for publications reporting its prevalence, pattern, treatment and outcome. METHODS: The pooled prevalence estimates (PPE) with 95% CI were calculated using binomial distribution and random effects. Meta-regression method was used to examine factors affecting heterogeneity between studies. RESULTS: Forty-nine articles were identified comprising a total of 8574 sarcoidosis patients, where 12% presented with JI (95% CI 10, 14; I2 = 0%). The PPE for sarcoid arthritis (SA) was 19% (95% CI 14, 24; I2 = 95%), and 32% (95% CI 13, 51; I2 = 99%) for arthralgia. Heterogeneity was due to higher JI prevalence reported in Western Asia and the Middle East, in rheumatology clinics and via surveys. Sample size of SA varied from 12 to 117 cases. Ankles were most frequently affected (PPE 80%) followed by knees and wrists. Monoarthritis was uncommon (PPE 1%; 95% CI 0, 2; I2 = 55%). Acute SA prevailed (PPE 79%; 95% CI 72, 88; I2 = 69%) with an equal proportion of oligo and polyarthritis and was frequently accompanied by erythema nodosum (PPE 62%; 95% CI 52, 71; I2 = 16%). Chronic SA was predominantly polyarticular with a higher frequency of the upper extremity joints affected. Most common non-articular manifestations with SA included fever (52%), erythema nodosum (41%), hilar adenopathy (86%) and interstitial lung disease (23%) of which one-third required corticosteroids and/or immunosuppressants. CONCLUSION: SA occurred early in the disease with a PPE of 19% and most frequent pattern of acute oligo- or polyarthritis predominantly affecting the lower extremity large joints.


Subject(s)
Arthritis , Sarcoidosis , Humans , Sarcoidosis/epidemiology , Prevalence , Arthritis/epidemiology , Arthralgia/epidemiology , Arthralgia/etiology
7.
Mod Rheumatol ; 2023 Oct 14.
Article in English | MEDLINE | ID: mdl-37837394

ABSTRACT

OBJECTIVES: Our study aimed to evaluate the relationship of small joint involvement with demographic, clinical, and laboratory findings and to determine its possible effects on prognosis. METHODS: This retrospective observational study was conducted in patients diagnosed with oJIA in the pediatric rheumatology department of our hospital between April 2009-September 2022. The relationship between small joint involvement and demographic, clinical, laboratory findings and prognosis were investigated by statistical methods with the data recorded from the medical records of oJIA patients. RESULTS: Of the 198 patients diagnosed with oJIA, small joint involvement was observed in a total of 20 (10%) patients, 11 (5.5%) at the time of diagnosis, and 9 (4.5%) during the follow-up period. The frequency of small joint involvement in extended oJIA was significantly higher than in persistent oJIA (p=0.001). Patients with small joint involvement had significantly higher ESR and CRP values at admission (p=0.047, p=0.038) and the JADAS at 3, 6, and 12 months (p=0.001, p=0.001, p=0.018). The need for cDMARDs and bDMARDs was significantly higher in patients with small joint involvement (p=0.001, p=0.001). CONCLUSIONS: oJIA patients with small joint involvement may have higher acute phase reactants at diagnosis, a more extended course and active disease in follow-up, and the need for treatment escalation.

8.
Reumatol. clín. (Barc.) ; 19(6): 293-298, Jun-Jul. 2023. tab, ilus
Article in Spanish | IBECS | ID: ibc-221267

ABSTRACT

Objetivo: Describir el compromiso cutáneo (CC) en pacientes con lupus eritematoso sistémico (LES) al inicio de la enfermedad y durante el seguimiento. Determinar factores asociados a dicho compromiso al comienzo de la enfermedad. Materiales y métodos: Estudio retrospectivo, observacional y descriptivo, de centro único, en pacientes con diagnóstico de LES (ACR97 o SLICC2012). Se utilizó la clasificación de Gilliam modificada para el CC. Se realizó estadística descriptiva y análisis bivariado y multivariado para evaluar los factores asociados al compromiso cutáneo. Resultados: Se incluyeron 149 pacientes (91,3% mujeres) con una mediana de edad al diagnóstico de 33años. El CC al inicio de la enfermedad ocurrió en 125 pacientes (83,9%), seguido por compromiso articular en 120 (80,5%). Las lesiones no específicas fueron más frecuentes que las específicas: 92,8% versus 66,4%, respectivamente. En el análisis bivariado, la mayor demora al diagnóstico, la presencia de compromiso articular, la menor presencia de trombocitopenia y la mayor puntuación de SLEDAI-2K se asociaron con la presencia de CC al inicio de la enfermedad. En el análisis multivariado, la variable que se mantuvo asociada de manera independiente fue el compromiso articular (OR: 2,8; IC95%: 1,1-7,5; p=0,04). Durante el seguimiento, 4/24 pacientes que no habían presentado CC al diagnóstico y 51/125 pacientes que sí lo presentaron tuvieron al menos un nuevo episodio cutáneo (rango: 1-5 brotes). Conclusiones: Nuestro estudio demuestra la alta frecuencia de pacientes que presentan compromiso cutáneo en el LES, tanto en el diagnóstico como evolutivamente, y confirma los datos reportados previamente en cuanto a la existencia de un fenotipo cutáneo-articular.(AU)


Objectives: To describe skin involvement (SI) in patients with systemic lupus erythematosus (SLE) at onset and during follow-up of the disease and to determine factors associated with SI at lupus diagnosis. Materials and methods: Retrospective, observational, and descriptive study, from a single centre in patients diagnosed with SLE (ACR1982-97 or SLICC2012 criteria). The modified Gilliam classification for SI was used. Descriptive statistics and bivariate and multivariate analysis were performed to evaluate the factors associated with SI at diagnosis of the disease. Results: A total of 149 patients were included, 91.3% women, with a median age at diagnosis of 33years. SI at onset of the disease occurred in 125 patients (83.9%), followed by joint involvement in 120 cases (80.5%). Non-specific skin lesions were more frequent than specific lesions, 92.8% versus 66.4%, respectively. In the bivariate analysis, a longer delay to diagnosis, the presence of joint involvement, a lower presence of thrombocytopenia, and a higher SLEDAI-2K score were associated with the presence of SI at onset of the disease. In the multivariate analysis, the variable that remained independently associated was joint involvement (OR: 2.8: 95%CI: 1.1-7.5; P=.04). During follow-up, 4/24 patients who had not presented SI at diagnosis and 51/125 patients who had, had at least one new skin flare (range: 1-5 outbreaks). Conclusions: Our study demonstrates the high frequency of skin involvement in SLE, both diagnostically and evolutionarily, and confirms previously reported data regarding the existence of a skin-articular phenotype.(AU)


Subject(s)
Humans , Male , Female , Adult , Lupus Erythematosus, Systemic/complications , Skin/injuries , Musculoskeletal System , Medical Records , Retrospective Studies , Epidemiology, Descriptive , Rheumatology , Rheumatic Diseases , Argentina
9.
Cureus ; 15(5): e38845, 2023 May.
Article in English | MEDLINE | ID: mdl-37303336

ABSTRACT

Comminuted intra-articular fractures are among the most difficult to fix, with open reduction and internal fixation often being impossible. We report the case of a 15-year-old male who required an open reduction with external fixation after sustaining an extremely comminuted intra-articular fifth metacarpal head fracture of the right hand. The patient presented with swelling localised to the fourth and fifth dorsal metacarpals of the right hand, with radiographs demonstrating an intra-articular fracture with comminution and articular surface depression. Literature surrounding metacarpal head fractures, although scarce, suggests that whilst treatment must be individualised, most osteochondral fractures can be managed via open reduction with internal fixation either via K wires, interfragmentary screws or small headless screws. This case demonstrates that in challenging cases, with limited bone stock and cavities created through reduction of the fracture, fixation can be achieved through K wire with HK2 external fixation. It also highlights the apparent insufficiency in articles specifically detailing potential management options for intra-articular metacarpal fractures and has provided evidence of one potential fixation method.

10.
Clin Rheumatol ; 42(10): 2873-2879, 2023 Oct.
Article in English | MEDLINE | ID: mdl-37341932

ABSTRACT

INTRODUCTION: The inflammatory involvement of joints and tendons is common in Systemic Sclerosis (SSc). Ultrasonography (US) is a non-invasive tool commonly applied for the assessment of the main inflammatory arthropathies and could be also used in identifying pathological features in SSc patients, even without clinical evidence of joint complaint. So, the aim of this study was to assess the prevalence of US pathological features in a cohort of SSc patients and assessed the role of US in the detection of subclinical joint involvement. METHODS: In this retrospective study, we collected data about the prevalence of US pathological features at the level of hands and wrists in a cohort of patients with a definite diagnosis of SSc, submitted to an ultrasound examination of hands and wrists according to the clinician's opinion, with or without joint involvement symptoms, in order to assess the US ability in detecting subclinical inflammatory signs in SSc patients. RESULTS: In total, 47.5% of patients reported at least one US pathological feature. The most common was synovial hypertrophy (62.1%). Other assessed lesions were effusion (48%), tenosynovitis (37.9%), power Doppler (PD) signal (31.0%), and erosions (0.7%). Effusion and PD signal appeared significantly higher in symptomatic patients, with a p<0.01 and p=0.045, respectively. CONCLUSIONS: In this cohort of SSc subjects, almost the half of the US-positive patients were clinically asymptomatic. Therefore, the application of US could be useful to detect the musculoskeletal involvement of SSc patients, a potential markers of disease severity. Further studies are required to assess the role of US in monitoring SSc patients. Key Points • The inflammatory involvement of joints and/or tendons is common in systemic sclerosis (SSc) but could be partially covered by other disease features. • Among the diagnostic methods able to increase the sensitivity of the musculoskeletal evaluation, Ultrasonography (US) is one of the most promising to reveal subclinical inflammation and predict the joint damage progression. • We retrospectively investigated the prevalence of US pathological features in a cohort of SSc patients, with or without symptoms of joint involvement, assessing the role of US in the detection of subclinical joint involvement. • We found that joint and tendon involvement, a potential marker of disease severity, is common in SSc.


Subject(s)
Scleroderma, Systemic , Synovitis , Humans , Retrospective Studies , Wrist Joint/diagnostic imaging , Ultrasonography/methods , Hand , Ultrasonography, Doppler , Synovitis/pathology , Scleroderma, Systemic/diagnostic imaging , Scleroderma, Systemic/pathology
11.
Reumatol Clin (Engl Ed) ; 19(6): 293-298, 2023.
Article in English | MEDLINE | ID: mdl-37164883

ABSTRACT

OBJECTIVES: To describe skin involvement (SI) in patients with systemic lupus erythematosus (SLE) at onset and during follow-up of the disease and to determine factors associated with SI at lupus diagnosis. MATERIALS AND METHODS: Retrospective, observational, and descriptive study, from a single centre in patients diagnosed with SLE (ACR 1982-97 or SLICC 2012 criteria). The modified Gilliam classification for SI was used. Descriptive statistics and bivariate and multivariate analysis were performed to evaluate the factors associated with SI at diagnosis of the disease. RESULTS: 149 patients were included, 91.3% women with a median age at diagnosis of 33 years. SI at onset of the disease occurred in 125 patients (83.9%), followed by joint involvement in 120 cases (80.5%). Non-specific skin lesions were more frequent than specific lesions, 92.8% versus 66.4%, respectively. In the bivariate analysis, a longer delay to diagnosis, the presence of joint involvement, a lower presence of thrombocytopenia, and a higher SLEDAI-2K score were associated with the presence of SI at onset of the disease. In the multivariate analysis, the variable that remained independently associated was joint involvement (OR 2.8%-95% CI 1.1-7.5, p: .04). During follow-up, 4/24 patients who had not presented SI at diagnosis and 51/125 patients who had, had at least one new skin flare (range: 1-5 outbreaks). CONCLUSIONS: Our study demonstrates the high frequency of skin involvement in SLE, both diagnostically and evolutionarily, and confirms previously reported data regarding the existence of a skin-articular phenotype.


Subject(s)
Leukopenia , Lupus Erythematosus, Systemic , Female , Humans , Male , Follow-Up Studies , Lupus Erythematosus, Systemic/complications , Lupus Erythematosus, Systemic/diagnosis , Research Design , Retrospective Studies , Adult
13.
Reumatologia ; 60(1): 53-62, 2022.
Article in English | MEDLINE | ID: mdl-35645418

ABSTRACT

Joint involvement is one of the most common clinical manifestations of systemic connective tissue diseases (CTD). Joint symptoms can take various forms, ranging from joint pain to mono-arthritis or symmetrical poly-arthritis. In most cases, arthritis takes a non-destructive form, such as in the course of systemic lupus erythematosus or primary Sjögren's syndrome, to destructive arthritis in overlap syndromes of CTD with rheumatoid arthritis. In addition, apart from the wide variety of forms of joint involvement, it should be noted that joint symptoms may be one of the domains suggesting a severe course of the disease. The study attempts to present the methods of assessing the involvement of the locomotor system. The search for appropriate scales to determine the degree of joint involvement is important in assessing the severity of joint changes, has an impact on the overall degree of disease activity, and allows for timely implementation of appropriate treatment.

14.
Clin Rheumatol ; 41(5): 1483-1491, 2022 May.
Article in English | MEDLINE | ID: mdl-35041109

ABSTRACT

OBJECTIVE: Joint involvement can be observed during the course of adult IgA vasculitis (IgAV). However, clinical picture, prognosis, or pathophysiological data associated with this condition have been overlooked. We aimed to describe the clinical characteristics and outcome of IgAV patients with joint involvement and look to a specific cytokine profile. METHODS: We analyzed clinical and biological data from a nationwide study that included adult IgAV patients. Presentation and outcomes of patients with or without joint involvement were compared at baseline and during follow-up. Plasma cytokine measurements of IgAV patients included in a prospective study were also analyzed using multiplex assays. RESULTS: Among 260 patients, 62% had joint involvement. Among them, rheumatological manifestations included arthralgia (100%) or arthritis (16%), mostly involving the knees and ankles. In multivariate analysis, patients with joint involvement, compared to those without, were younger (p = 0.002; OR 0.87; 95% CI 0.80-0.95) and showed more frequent gastrointestinal tract involvement (p = 0.012; OR = 2.08; 95% CI 1.18-3.67). However, no difference in terms of clinical response, relapse, end-stage renal disease, or death was observed between groups. Among 13 cytokines measured, plasma interleukin (IL)-1ß level was higher in patients with joint involvement compared to those without (mean ± SEM IL-1ß, 3.5 ± 1.2 vs. 0.47 ± 0.1 pg/ml; p = 0.024) or healthy controls (vs. 1.2 ± 0.5 pg/ml; p = 0.076). CONCLUSION: Joint involvement is frequent in adult IgAV and is associated with more frequent gastrointestinal involvement. Increased plasma IL-1ß levels raise the question of targeting this cytokine in patients with chronic and/or refractory joint involvement. Key Points • Joint involvement in adult IgAV is a frequent manifestation. • Joint involvement is associated with more frequent gastrointestinal manifestations. • Interleukin-1ß (IL-1ß) might orchestrate joint inflammation in adult IgAV. • IL-1ß might be a therapeutic target in patients with chronic and/or refractory joint involvement.


Subject(s)
IgA Vasculitis , Cytokines , Humans , Immunoglobulin A , Phenotype , Prospective Studies
15.
Pediatr Rheumatol Online J ; 20(1): 6, 2022 Jan 29.
Article in English | MEDLINE | ID: mdl-35093127

ABSTRACT

BACKGROUND: Few published data describe how joint involvement, the most prevalent extraintestinal manifestation, affects quality of life (QoL) of children with Crohn's disease (CD). Arthritis and arthralgia rates in pediatric CD patients are reportedly 3-24% and 17-22%, respectively, but studies on pre-emptive and systematic screening of joint involvement with detailed musculoskeletal rheumatological exam are lacking. More detailed data collection on joint involvement improves our understanding of how arthropathy relates to disease activity and QoL measured by the Pediatric CD Activity Index (PCDAI) and IMPACT-III questionnaire. Our study aims were to assess joint involvement in pediatric CD and correlate it with the PCDAI and IMPACT-III. METHODS: In this cross-sectional, observational study, a pediatric gastroenterologist assessed consecutively-seen pediatric CD patients at a tertiary care center. Patients were screened for prevalence of current and previous arthropathy, including arthritis, enthesitis and arthralgia. A single experienced pediatric rheumatologist evaluated detailed musculoskeletal history, joint status, and modified Juvenile Arthritis Multidimensional Assessment Reports (JAMAR). PCDAI, IMPACT-III, sacroiliac MRI, and HLA-B27 genetic testing were also completed. RESULTS: A total of 82 (male:female, 1.2:1; age, 13.7 ± 3.2 years) patients were involved in this study. Mean disease duration at time of study was 21.6 ± 21 months; eight of the patients were newly-diagnosed. Of the 82 patients, 29 (35%) had evidence of arthritis; for 24 of those, this was revealed by physical exam during cross-sectional screening, and by prior documentation for the remaining five patients. Joint examination confirmed active arthritis in 8/24 (33%), active enthesitis in 1/24 (4%), and evidence of previous arthritis in 15/24 (62.5%) patients. Hip (41%) and knee (38%) joints were most commonly affected. Cumulative incidence of arthralgia was 48% (39/82), and 46% (18/39) of those patients had only arthralgia without arthritis, usually affecting the knee. Axial involvement was present in 10/82 (12%) patients. Joint involvement correlated with more severe CD disease activity, specifically higher PCDAI and lower IMPACT-III scores, and increased requirement for infliximab treatment. Sacroiliitis and HLA-B27 positivity were insignificant factors in this cohort. CONCLUSIONS: When a rheumatologist performed the assessment, joint involvement in pediatric CD was more prevalent than previously reported, in this cross-sectional study. Arthritis was associated with more severe CD disease activity and lower QoL.


Subject(s)
Crohn Disease/complications , Joint Diseases/etiology , Quality of Life , Adolescent , Child , Cross-Sectional Studies , Female , Humans , Hungary , Male , Surveys and Questionnaires
16.
Joint Bone Spine ; 89(1): 105270, 2022 01.
Article in English | MEDLINE | ID: mdl-34534690

ABSTRACT

OBJECTIVES: Noonan syndrome is a rare genetic disorder characterized mainly by congenital heart disease, occasional intellectual disability, and varied orthopaedic, rheumatological and haematologic anomalies. Despite potentially serious functional consequences, joint involvement has been rarely studied in the literature. Our objective was to perform a retrospective study evaluating the prevalence and characteristics of joint involvement in Noonan syndrome. METHODS: We recorded articular symptoms, including their type and frequency, in patients with Noonan syndrome followed up in French hospitals. Patients were included if the diagnosis was confirmed before the age of 20 based on the van der Burgt criteria or genetic analysis. Data are presented as frequencies or medians (ranges), and patient groups were compared using chi-square or Fisher tests. RESULTS: Seventy-one patients were included from 4 centres. The average age was 12.5 years (range: 2-36). Musculoskeletal pain was found in 18 patients (25%) and joint stiffness in 10 (14%) located in the wrists, elbows, ankles, knees and hips, which was usually bilateral. Only one destructive form was described (multiple villonodular synovitis and a giant cell lesion of the jaw). There were no cases of systemic lupus erythaematosus (SLE) or other autoimmune arthritis. Raynaud's phenomenon was observed in 3 patients. Only 50% of joint complaints led to additional exploration. SOS1 mutations (P<0.05) and treatment with growth hormone (GH) (P<0.05) were the only factors significantly related to musculoskeletal pain. Patients treated with GH did not have more SOS1 mutations. Patients experiencing pain were not more likely to experience stiffness, joint hypermobility, or coagulation abnormalities. CONCLUSION: Joint manifestations were frequent in Noonan syndrome, predominant in large joints, and rarely explored. Multiple villonodular synovitis is characteristic but rare. Auto-immune disorders were not described in this cohort. A more multidisciplinary approach could be recommended for the early detection of possibly disabling rheumatologic manifestations.


Subject(s)
Lupus Erythematosus, Systemic , Noonan Syndrome , Synovitis, Pigmented Villonodular , Synovitis , Child , Humans , Noonan Syndrome/diagnosis , Noonan Syndrome/epidemiology , Noonan Syndrome/genetics , Retrospective Studies , Synovitis, Pigmented Villonodular/pathology
17.
Curr Med Res Opin ; 37(sup2): 5-15, 2021 11.
Article in English | MEDLINE | ID: mdl-34726112

ABSTRACT

OBJECTIVE: To investigate the patient- and caregiver-reported impact of systemic sclerosis (SSc) manifestations (hand/feet/joint involvement and pulmonary complications) on the diagnostic and therapeutic journey, working productivity, and social life. METHODS: Two questionnaires (one for the patients, n = 260 and one for the caregivers, n = 47) were designed in collaboration with the patients' association Gruppo Italiano per la Lotta alla Sclerodermia (GILS). Validated questionnaires were combined with specific questions relevant to the Italian scenario. RESULTS: Pulmonary fibrosis and hand/feet/joint involvement have a major impact on patient's working status: (85.3% of patients with pulmonary fibrosis and 72.6% with hand/feet/joint involvement report loss of job/job change due to SSc. Productivity was affected as well: 60.6% of the patients (75% of those with fibrosis) reported that working productivity in the previous 4 weeks was restricted by physical limitations. The disease has a significant impact on patients' life, limiting the ability to conduct common activities, especially those related to movement, such as object manipulation (61.1%), doing small manual jobs (44.0%), writing (38.9%), and an increased impact in case of pulmonary fibrosis and hands/feet/joints involvement. Half of the patients also present some difficulties in eating-related activities a Patients also experience poorer social life, personal relationships, and sexual life. Caregivers are also deeply influenced by the manifestations of SSc. Pulmonary fibrosis and hand/feet/joint involvement represent an additional challenge. CONCLUSION: Pulmonary fibrosis and hand/feet/joint involvement are extremely burdensome complications for both SSc patients and caregivers, decreasing work productivity, limiting relationship and social life, and impacting psychological status and everyday activities.


Subject(s)
Caregivers , Scleroderma, Systemic , Efficiency , Hand , Humans , Quality of Life , Scleroderma, Systemic/complications , Surveys and Questionnaires
18.
Lupus ; 30(13): 2029-2041, 2021 Nov.
Article in English | MEDLINE | ID: mdl-34666547

ABSTRACT

Systemic lupus erythematosus (SLE)-related arthritis has been traditionally defined as non-erosive and is therefore considered a minor manifestation requiring a mild treatment. However, the concept of non-erosive arthritis in SLE has been challenged with the advent of sensitive imaging techniques, such as high-resolution ultrasound with power Doppler or magnetic resonance. The application of these new imaging tools has demonstrated that up to 40% of SLE patients with joint involvement can develop erosive damage. Thus, this more aggressive phenotype can be identified not only in patients overlapping with rheumatoid arthritis (RA). This issue has been considered for the first time in the classification criteria proposed by Systemic Lupus International Collaborating Clinics in 2012, in which the old definition of "non-erosive arthritis" was replaced with either synovitis or tenderness in two or more joints with morning stiffness, suggesting the possible presence of an erosive phenotype. Accordingly, the 2019 EULAR/ACR's SLE recommendations advise treatment with immunosuppressant or biological drugs for patients with RA-like moderate arthritis. As a result, several studies have investigated the presence of biomarkers associated with SLE erosive damage. A relevant role seems to be played by the autoantibodies directed against post-translational modified proteins: above all, a significant association has been observed with antibodies directed against citrullinated and carbamylated proteins. Conversely, the rheumatoid factor was not associated with this more aggressive SLE-related arthritis. Nonetheless, some pro-inflammatory factors have been associated with erosive damage in SLE patients. These results suggest new pathogenic mechanisms underlining erosive arthritis, only partially shared with RA. Hence, in the present narrative review, we summarized available data about erosive arthritis in SLE patients, in the light of its impact on therapeutic decisions.


Subject(s)
Arthritis, Rheumatoid , Lupus Erythematosus, Systemic , Synovitis , Arthritis, Rheumatoid/drug therapy , Autoantibodies , Humans , Lupus Erythematosus, Systemic/complications , Lupus Erythematosus, Systemic/drug therapy , Rheumatoid Factor
19.
Rheum Dis Clin North Am ; 47(4): 607-617, 2021 11.
Article in English | MEDLINE | ID: mdl-34635294

ABSTRACT

Patients with juvenile idiopathic arthritis (JIA) often have involvement of the temporomandibular joint (TMJ) during their disease course. Active arthritis of the TMJ remains difficult to assess. Clinical signs and symptoms alone are unreliable, and active TMJ arthritis needs confirmation by gadolinium-enhanced MRI. In recent years, changes in treatment approach have occurred. This article discusses the latest evidence on diagnosis and treatment of JIA-associated TMJ arthritis.


Subject(s)
Arthritis, Juvenile , Temporomandibular Joint Disorders , Arthritis, Juvenile/diagnostic imaging , Humans , Magnetic Resonance Imaging , Temporomandibular Joint/diagnostic imaging , Temporomandibular Joint Disorders/diagnostic imaging , Temporomandibular Joint Disorders/etiology , Temporomandibular Joint Disorders/therapy
20.
Hautarzt ; 72(11): 946-952, 2021 Nov.
Article in German | MEDLINE | ID: mdl-34591123

ABSTRACT

BACKGROUND: Psoriatic arthritis is the most important "comorbidity" of psoriasis, which impacts the work of dermatologists in many ways. OBJECTIVE: The relevance of joint involvement in psoriasis patients for the practicing dermatologist is considered. METHODS: An analysis of publications listed in PubMed® (Bethesda, MD, USA) on the topic of psoriatic arthritis in English, German, or French was carried out. RESULTS: Psoriatic arthritis affects between 6 and 42% of psoriasis patients, often occurring several years after the onset of psoriasis of the skin. Questionnaires represent validated tools to screen for psoriatic arthritis. Timely initiation of treatment using disease-modifying antirheumatic drugs (DMARD) results in particularly good long-term outcomes, as structural joint damage and functional loss can be prevented. To achieve this goal, increasing numbers of systemic treatment methods are becoming available, which are also approved for the treatment of psoriasis. CONCLUSION: In recent years it has become increasingly less complicated to effectively and safely treat all clinical facets of psoriasis and psoriatic arthritis within the framework of monotherapy. Dermatologists are important sentinels when it comes to early diagnosis, which in turn is decisive for the long-term prognosis. The presence and extent of psoriatic arthritis are key criteria in the therapeutic decision-making of dermatologists.


Subject(s)
Antirheumatic Agents , Arthritis, Psoriatic , Psoriasis , Antirheumatic Agents/therapeutic use , Arthritis, Psoriatic/diagnosis , Arthritis, Psoriatic/drug therapy , Arthritis, Psoriatic/epidemiology , Humans , Psoriasis/diagnosis , Psoriasis/drug therapy , Psoriasis/epidemiology , Skin , Surveys and Questionnaires
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