An anti-RNA polymerase III antibody-positive systemic sclerosis patient with thymic carcinoma whose digital ulcers healed during treatment with macitentan and sildenafil for pulmonary arterial hypertension

2020 ◽  
Vol 30 (2) ◽  
pp. 207-209
Author(s):  
Mariko Takaoka ◽  
Tomonori Takekoshi ◽  
Rina Nakajima ◽  
Asuka Furukawa ◽  
Yuichi Tamura ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Rna Polymerase ◽  
Thymic Carcinoma ◽  
Rna Polymerase Iii ◽  
Digital Ulcers ◽  
Polymerase Iii ◽  
Pulmonary Arterial ◽  
Systemic Sclerosis Patient

Characteristics of patients with systemic sclerosis suffering from a lower limb amputation: Results of a French collaborative study

2020 ◽  
Vol 5 (3) ◽  
pp. 224-230
Author(s):  
Julien Bertolino ◽  
Elisabeth Jouve ◽  
Sophie Skopinski ◽  
Christian Agard ◽  
Aurélie Achille ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Lower Limb ◽  
Lower Limb Amputation ◽  
Limb Amputation ◽  
Digital Ulcers ◽  
Multicentric Study ◽  
Limb Segment ◽  
Pulmonary Arterial

Objective: Systemic sclerosis mainly affects the microvascular network. However, macrovascular manifestations have been reported. We aimed to investigate the characteristics of systemic sclerosis patients with an amputation of a lower limb segment. Methods: We designed a retrospective, case–control, multicentric study on systemic sclerosis patients with amputation of a lower limb segment secondary to critical ischemia via the French Research Group on Systemic Sclerosis. For each case, a control (systemic sclerosis patient without lower limb symptom) was matched with sex, age (±5 years), and cutaneous subset of systemic sclerosis. Results: In total, 26 systemic sclerosis patients (mean age of 67.2 ± 10.9 years, 20 females, 21 limited cutaneous forms) with a lower limb amputation and 26 matched controls (mean age of 67.3 ± 11.2 years, 20 females, 22 limited cutaneous forms) were included. At the time of amputation, the mean disease duration was 12.8 (±8.6) years. In comparison to controls, systemic sclerosis patients with amputation had more digital ulcers (p = 0.048), history of digital ulcers (p = 0.026), and a higher prevalence of pulmonary arterial hypertension (p = 0.024). Systemic sclerosis patients with amputation were more often smokers (p = 0.008) and under corticosteroids (p = 0.015). In the multivariate model, pulmonary arterial hypertension, smoking status, and corticosteroids were independent markers associated with lower limb amputation in systemic sclerosis. In the follow-up, 10 patients (38.5%) had recurrent ischemia requiring a new limb amputation, and five patients (19.2%) had an amputation of the contralateral limb. Conclusion: This study identifies some markers associated with lower limb amputation in systemic sclerosis such as digital ulcers and pulmonary arterial hypertension and points out the high risk associated with tobacco consumption and corticosteroid use.

scholarly journals A Unique Presentation of Anti-RNA Polymerase III Positive Systemic Sclerosis Sine Scleroderma

2016 ◽  
Vol 2016 ◽  
pp. 1-4
Author(s):  
Cody M. Lee ◽  
Diana Girnita ◽  
Arundhati Sharma ◽  
Surabhi Khanna ◽  
Jean M. Elwing
Keyword(s):  
Systemic Sclerosis ◽  
Rna Polymerase ◽  
Wide Spectrum ◽  
Rna Polymerase Iii ◽  
Clinical Manifestations ◽  
Autoimmune Disorder ◽  
Scleroderma Renal Crisis ◽  
Polymerase Iii ◽  
Digital Ischemia ◽  
Pulmonary Arterial

Systemic sclerosis is a rare autoimmune disorder with a wide spectrum of clinical manifestations and a multitude of autoantibodies that are associated with it. In the past several years, advances in serologic testing have led to research indicating important prognostic and phenotypic associations with certain subsets of autoantibodies. In particular, anti-RNA polymerase III (anti-RNAP III) has been associated with diffuse cutaneous disease, scleroderma renal crisis, a temporal relationship with malignancy, myositis, synovitis, joint contractures, and gastric antral vascular ectasia. However, anti-RNAP III has not been associated with systemic sclerosis sine scleroderma. We describe a patient with an atypical presentation of anti-RNAP III positive systemic sclerosis sine scleroderma who presented without the typical features of anti-RNAP III disease. Instead, she presented with critical digital ischemia, pulmonary arterial hypertension, gastroesophageal reflux disease, interstitial lung disease, and no clinically detectable sclerodactyly.

scholarly journals AB0564 HEART VALVULAR ALTERATIONS IN A MULTICENTRE ITALIAN COHORT OF SSC PATIENTS

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1579.2-1579
Author(s):  
M. Colaci ◽  
C. Schinocca ◽  
Y. Dal Bosco ◽  
M. L. Aprile ◽  
G. Guggino ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Pulmonary Arterial Hypertension ◽  
Aortic Valve ◽  
Arterial Hypertension ◽  
Disease Duration ◽  
Digital Ulcers ◽  
Flow Profile ◽  
Calcific Aortic Valve Disease ◽  
Valve Insufficiency ◽  
Pulmonary Arterial

Background:systemic sclerosis (SSc) in a chronic autoimmune disease characterized by endothelial dysfunction, diffuse microangiopathy, and fibrosis of skin and visceral organs. Typical cardiac involvement may includes microvascular ischemia, contraction band necrosis, and patchy fibrosis, leading mainly to arrythmias and conduction defects, diastolic dysfunction, or right ventricular failure (secondary to pulmonary arterial hypertension) [1]. Valvular diseases are poorly described and generally not considered a typical sign of SSc [2-4].Objectives:we aimed to describe valvular alterations in a multicentre cohort of SSc patients.Methods:we consecutively recruited 118 SSc patients (M/F: 14/104, mean age 56.7±12.4 years, median disease duration 10 years, limited/diffuse skin subsets: 95/23, anti-centromere/anti-Scl70/others autoantibodies: 35/37/46) in 3 Rheumatology Centres in Sicily, Italy, from January to December 2019.Considering the cardiovascular risk factors, 40 (34%) patients were smokers, 7 (6%) diabetics, 12 (10%) showed hypercholesterolemia, 38 (32%) arterial hypertension, while none was obese. Transthoracic echocardiogram was carried out in all patients during their follow-up.Results:valvular abnormalities were as follow: mitral valve: insufficiency 85 (72%) cases - mild in 77/85, stenosis 2 (2%) - mild in 25/28, sclerosis/tickening 36 (30%), and calcification 9 (8%) patients; aortic valve: insufficiency 28 (24%), stenosis 4 (3%), sclerosis 29 (25%), and calcification 7 (6%) patients; tricuspid valve: insufficiency 91 (77%) cases, no cases of stenosis, sclerosis 5 (4%), and calcification 1 (1%) patients; pulmonary valve: insufficiency in 13 (11%) patients.As expected, tricuspid insufficiency (TI) was associated with pulmonary arterial hypertension (PAH) (moderate TI in 20% of patients with every TI and PAH vs. 4% of patients with TI without PAH, p=0.019).Aortic sclerosis (AS) was associated with the presence of arthritis (AS in 35% of patients with arthritis vs. 16% of patients without, p=0.029).No association was found with age, gender, disease duration, skin subset, autoantibodies, capillaroscopic patterns, presence of digital ulcers, lung, renal, or digestive involvements.Conclusion:in this multicentre SSc cohort study, we found that cardiac valve alterations are very common, even though generally not clinically relevant. The presence of PAH was associated with more severe TI. Finally, AS was associated with arthritis that could be considered sign of chronic inflammatory state, which is often linked with accelerated atherosclerosis and remodeling process of aortic valve [5].References:[1]Lambova S. Cardiac manifestations in systemic sclerosis. World J Cardiol 2014; 6:993-1005.[2]D’Angelo W, Fries JF, Masi AT, Shulman LE. Pathologic observations in systemic sclerosis (scleroderma).A study of fifty-eight autopsy cases and fifty-eight matched controls. Am J Med 1969; 46:428-440.[3]Kazzam E, Caidahl K, Hallgren R, et al. Mitral regurgitation and diastolic flow profile in systemic sclerosis. Int J Cardiol 1990; 29:357-363[4]Wranicz J, Zielińska M, Cygankiewicz I, et al. Early cardiovascular involvement in patients with systemic sclerosis (SSc). Med Sci Monit. 2002; 8:CR78-82.[5]Coté N, Mahmut A, Bosse Y, et al. Inflammation is associated with remodeling of calcific aortic valve disease. Inflammation 2013; 36:573-581.Disclosure of Interests:Michele Colaci: None declared, Claudia Schinocca: None declared, Ylenia Dal Bosco: None declared, Maria Letizia Aprile: None declared, Giuliana Guggino Grant/research support from: Pfizer, Celgene, Speakers bureau: Celgene, Sandoz, Pfizer, Ilenia De Andres: None declared, Alessandra Azzurra Russo: None declared, Domenico Sambataro: None declared, Gianluca Sambataro: None declared, Lorenzo Malatino: None declared

scholarly journals AB0557 CO-EXISTENCE OF SYSTEMIC SCLEROSIS HALLMARK AUTOANTIBODIES ASSOCIATES WITH DISTINCT CLINICAL PHENOTYPE

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1575.2-1575
Author(s):  
C. Campochiaro ◽  
K. Clark ◽  
L. Host ◽  
A. Sari ◽  
S. Nihtyanova ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Clinical Features ◽  
Topoisomerase I ◽  
Clinical Phenotype ◽  
Rna Polymerase Iii ◽  
Scleroderma Renal Crisis ◽  
Fisher Exact Test ◽  
Pulmonary Arterial

Background:Systemic sclerosis (SSc) is typically manifests with distinct SSc-specific antibodies (SSc-Abs): anti-topoisomerase I (ATA), anti-centromere (ACA), anti-RNA polymerase III (ARA), anti-U3RNP (u3RNP), anti-U1RNP (U1RNP), anti-PmScl (PmScl), anti-Ku (Ku) and anti-Th/T0 (Th/T0), each being characterised by different clinical features and prognosis. The presence of >1 SSc-Abs is rare with minimum data about these patients’ clinical phenotype.Objectives:To describe and compare the clinical features of SSc patients with >1 SSc-AbMethods:The autoantibody profiles of 2799 SSc patients from February 2001 to June 2017 were retrospectively reviewed. Patients with >1 SSc-Abs were identified. Clinical features were collected and compared to historical cohorts of SSc patients with single SSc-Ab positivity. Patients were excluded if treated prior to their immunology test with rituximab, iv immunoglobulins or stem cell transplantation. Statistical analysis was performed using Fisher exact test.Results:72 patients (2.6%) with >1 SSc-Ab were identified. Full clinical data were available for 63 patients. 60 patients (2.1%) had double Ab positivity and 3 patients had triple Ab positivity (0.1%). 13 Ab combinations were present. U1RNP and ATA was the most frequent combination (35%), patients were significantly younger (51.38 years) than both U1RNP (58.64 years, p=0.050) and ATA (62.03 years, p=0.002) patients and more commonly of diffuse subset (dcSSc) (p=0.001 and p=0.041 respectively). Compared to ATA patients overlap features were more frequent (43% vs 15%, p=0.004) including inflammatory arthritis (p=0.025) and myositis (p=0.013) (Table 1). U1RNP and ACA had a significantly higher prevalence of pulmonary arterial hypertension compared to U1RNP (p=0.039) and ACA (p=0.022) patients, and compared to ACA patients they were younger (57.88 vs 68.75, p=0.015) with a higher incidence of myositis (p=0.001). U1RNP and ARA patients were more frequently dcSSc subtype compared to U1RNP patients (75% vs 21%, p=0.040). U1RNP and PmScl patients had a higher prevalence of myositis compared to U1RNP patients (p=0.006). ATA and ACA patients behaved similarly to ATA patients with a significantly higher prevalence of lung fibrosis (p=0.006) and myositis (p=0.041) compared to ACA. ACA and PmScl (7%) had higher prevalence of myositis compared to ACA patients (p=0.04).Table 1. Frequency of clinical features in some of the double antibody group combinations, compared to our cohort of patients with only one of the SSc specific antibody. Significant p values (<0.05) highlighted in bold. ILD (interstitial lung disease), PAH (pulmonary arterial hypertension), SRC (scleroderma renal crisis).Conclusion:Coexistence of hallmark autoantibodies is exceedingly rare in SSc patients. When combined, both SSc-Abs have the potential to synergistically interact and modify the clinical phenotype.Disclosure of Interests:Corrado Campochiaro Speakers bureau: Novartis, Pfizer, Roche, GSK, SOBI, Kristina Clark: None declared, Lauren Host: None declared, Alper Sari: None declared, Svetlana Nihtyanova: None declared, Christopher Denton Grant/research support from: GlaxoSmithKline, CSL Behring, and Inventiva, Consultant of: Medscape, Roche-Genentech, Actelion, GlaxoSmithKline, Sanofi Aventis, Inventiva, CSL Behring, Boehringer Ingelheim, Corbus Pharmaceuticals, Acceleron, Curzion and Bayer, Voon Ong: None declared

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