Article
Immunology
Giacomo De Luca, Giulio Cavalli, Corrado Campochiaro, Cosimo Bruni, Alessandro Tomelleri, Lorenzo Dagna, Marco Matucci-Cerinic
Summary: Systemic sclerosis (SSc) is a rare and severe connective tissue disease characterized by endothelial and vascular damage, immune activation, leading to inflammation and fibrosis of skin and internal organs. Cardiac involvement is common in SSc, often asymptomatic initially, with myocardial fibrosis considered the immunopathologic hallmark. Interleukin (IL)-1 and inflammasome play key roles in SSc-heart inflammation, and targeted inhibition of IL-1 is proposed as a potential treatment strategy.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Rheumatology
Reto D. Kurmann, Edward A. El-Am, Yasser A. Radwan, Avneek S. Sandhu, Cynthia S. Crowson, Eric L. Matteson, Kenneth J. Warrington, Rekha Mankad, Ashima Makol
Summary: Patients with systemic sclerosis have a nearly 4-fold increased prevalence of moderate/severe valvular heart disease at diagnosis compared to non-SSc patients. They also have a 4-fold increased risk of developing moderate/severe valvular heart disease after diagnosis of SSc. Coronary artery disease is the only significant risk factor for valvular heart disease in these patients.
JOURNAL OF RHEUMATOLOGY
(2021)
Review
Health Care Sciences & Services
Francesco Reggiani, Gabriella Moroni, Claudio Ponticelli
Summary: Systemic sclerosis is a chronic autoimmune disease that often involves the kidneys. Scleroderma renal crisis is the most serious renal event associated with this condition, and early and aggressive treatment is necessary to prevent irreversible organ damage and death.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Review
Medicine, General & Internal
Laura Ross, Elizabeth Paratz, Murray Baron, Andre La Gerche, Mandana Nikpour
Summary: Cardiac disease in systemic sclerosis (SSc) is a leading cause of death, with sudden cardiac death (SCD) occurring more commonly in SSc patients. Diffuse myocardial fibrosis, myocarditis, and ischemic heart disease are prevalent in SSc and contribute to the increased risk of SCD. Further research is needed to understand the specific risk factors for SCD in SSc and identify opportunities for primary prevention.
Review
Medicine, General & Internal
Mahmoud Nassar, Victoria Ghernautan, Nso Nso, Akwe Nyabera, Francisco Cuevas Castillo, Wan Tu, Luis Medina, Camelia Ciobanu, Mostafa Alfishawy, Vincent Rizzo, Saphwat Eskaros, Mamdouh Mahdi, Mohamed Khalifa, Mohamed El-Kassas
Summary: The gastrointestinal tract is frequently affected in individuals with systemic/localized scleroderma, leading to various GI manifestations and complications. Females are more susceptible to developing scleroderma, and esophageal and intestinal symptoms are common. Abnormal bowel movement and bacterial overgrowth contribute to malabsorption and increased mortality rate. Fecal incontinence is a common symptom that can lead to depression.
Review
Cardiac & Cardiovascular Systems
Peter Glynn, Sarah Hale, Tasmeen Hussain, Benjamin H. Freed
Summary: Systemic sclerosis (SSc) is a complex connective tissue disease that can affect various structural components of the heart, often being clinically silent in early disease. A review of cardiac imaging modalities emphasizes the importance of early detection and treatment optimization in SSc patients.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Review
Immunology
Ayumi Yoshizaki, Takemichi Fukasawa, Satoshi Ebata, Asako Yoshizaki-Ogawa, Shinichi Sato
Summary: This article outlines the role of B cells in the development of systemic sclerosis (SSc), including their involvement in autoimmune abnormalities, pro-inflammatory actions, and inhibitory functions. Studies have found B-cell depletion therapy to be effective for SSc.
FRONTIERS IN IMMUNOLOGY
(2022)
Review
Chemistry, Medicinal
Barbara Ruaro, Marco Confalonieri, Marco Matucci-Cerinic, Francesco Salton, Paola Confalonieri, Mario Santagiuliana, Gloria Maria Citton, Elisa Baratella, Cosimo Bruni
Summary: Systemic sclerosis patients often suffer from interstitial lung disease, with early diagnosis playing a pivotal role in improving prognosis. Treatment strategies typically involve a combination of immunosuppressants and targeted biological therapies based on disease severity and progression risk. Hematopoietic autologous stem cell transplantation has shown benefits for progressive SSc patients, while lung transplantation is considered for refractory cases of SSc-ILD.
Review
Immunology
Marc Scheen, Arnaud Dominati, Valerie Olivier, Samih Nasr, Sophie De Seigneux, Arsene Mekinian, Naim Issa, Fadi Haidar
Summary: Systemic sclerosis is a rare autoimmune vasculopathy that causes generalized systemic fibrosis due to dysregulated innate and adaptive immunity. Renal involvement is common in systemic sclerosis and is associated with a poorer prognosis. Scleroderma renal crisis, the most studied renal complication in systemic sclerosis, has seen a decrease in mortality rate with the use of ACE inhibitors and improved management.
AUTOIMMUNITY REVIEWS
(2023)
Article
Rheumatology
Francesco Zulian, Gloria Lanzoni, Biagio Castaldi, Alessandra Meneghel, Francesca Tirelli, Elisabetta Zanatta, Giorgia Martini
Summary: This study reports the first case series of patients with ssJSSc, a rare condition in childhood characterized by no skin involvement. Compared to classic JSSc, ssJSSc showed a longer diagnostic delay, higher frequency of cardiac involvement, and worse outcomes.
Article
Medicine, General & Internal
Burabha Pussadhamma, Ajanee Mahakkanukrauh, Siraphop Suwannaroj, Ratanavadee Nanagara, Chingching Foocharoen
Summary: Cardiac involvement in patients with systemic sclerosis can progress slowly or even be reversed. The incidence of symptomatic cardiac involvement after 2 years is low, with pulmonary arterial hypertension being the most prevalent symptom. Male patients have a higher risk of mortality.
AMERICAN JOURNAL OF THE MEDICAL SCIENCES
(2021)
Review
Immunology
Georgia-Savina Moysidou, Athanasia Dara, Alexandra Arvanitaki, Anastasia Skalkou, Eleni Pagkopoulou, Dimitris Daoussis, George D. Kitas, Theodoros Dimitroulas
Summary: This review discusses the various aspects of cardiac involvement in systemic sclerosis, including pathophysiology, clinical presentation, diagnosis, and treatment. Imaging modalities such as cardiac magnetic resonance have emerged as important tools for understanding the mechanisms and early detection of myocardial fibrosis.
EXPERT REVIEW OF CLINICAL IMMUNOLOGY
(2023)
Article
Rheumatology
Melody P. Chung, Christopher A. Mecoli, Jamie Perin, Carrie Richardson, Zsuzsanna H. McMahan
Summary: The objective of this study was to determine the association between perifollicular hypopigmentation and demographics, clinical features, and autoantibody profiles in systemic sclerosis patients. The results showed that perifollicular hypopigmentation was associated with black race, diffuse cutaneous SSc, higher skin scores, myopathy, pulmonary fibrosis, lower lung function, and anticentromere antibodies exhibited an inverse association. After adjusting for age, race, and disease duration, diffuse cutaneous SSc and increased skin scores were significantly associated with perifollicular hypopigmentation.
JOURNAL OF RHEUMATOLOGY
(2022)
Review
Cardiac & Cardiovascular Systems
Abukar Mohamed Ali, Yakup Yakupoglu, Tobias A. Fuchs, Terje H. Larsen, Pal Aukrust, Ragnar Gunnarsson, Sahrai Saeed
Summary: Despite advances in managing systemic vasculitides, cardiovascular morbidity and mortality remain a primary concern. Noninvasive imaging techniques, including echocardiography, cardiac magnetic resonance, positron emission tomography, and computed tomography angiography, play essential roles in identifying and guiding the treatment of cardiac involvement in vasculitides.
CURRENT PROBLEMS IN CARDIOLOGY
(2023)
Article
Rheumatology
Alexia Steelandt, Nouria Benmostefa, Jerome Avouac, Luc Mouthon, Yannick Allanore
Summary: A study comparing Black and White SSc patients in France found that Black patients have more severe skin and lung involvements, while White patients are more likely to carry specific antibodies. These differences suggest that racial disparities may influence the disease presentation in SSc.
Letter
Rheumatology
Cosimo Bruni, Marco Matucci-Cerinic
ANNALS OF THE RHEUMATIC DISEASES
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Nicholas Landini, Martina Orlandi, Mariaelena Occhipinti, Cosimo Nardi, Lorenzo Tofani, Silvia Bellando-Randone, Pierluigi Ciet, Piotr Wielopolski, Thomas Benkert, Cosimo Bruni, Silvia Bertolo, Alberto Moggi-Pignone, Marco Matucci-Cerinic, Giovanni Morana, Stefano Colagrande
Summary: The purpose of this study was to test the application of respiratory-triggered ultrashort echo-time (UTE) Spiral VIBE-MRI sequence in the assessment of systemic sclerosis-interstitial lung disease (SSc-ILD) compared with computed tomography (CT). The results showed that the UTE sequence had high reliability in assessing the extent of ILD and GGO.
JOURNAL OF THORACIC IMAGING
(2023)
Article
Rheumatology
Ariane Barbacki, Murray Baron, Mianbo Wang, Yuqing Zhang, Wendy Stevens, Joanne Sahhar, Susanna Proudman, Mandana Nikpour, Ada Man
Summary: This study found distinct trajectories of damage accrual in patients with systemic sclerosis, with age, gender, disease type, tendon friction rubs, and C-reactive protein level being associated with the different trajectories. These findings may be helpful in identifying patients who require early aggressive treatment.
ARTHRITIS CARE & RESEARCH
(2023)
Article
Rheumatology
Alexandru Garaiman, Klaus Steigmiller, Catherine Gebhard, Carina Mihai, Rucsandra Dobrota, Cosimo Bruni, Marco Matucci-Cerinic, Joerg Henes, Jeska De Vries-Bouwstra, Vanessa Smith, Andrea Doria, Yannick Allanore, Lorenzo Dagna, Branimir Anic, Carlomaurizio Montecucco, Otylia Kowal-Bielecka, Mickael Martin, Yoshiya Tanaka, Anna-Maria Hoffmann-Vold, Ulrike Held, Oliver Distler, Mike Oliver Becker
Summary: The DU-VASC model was developed and validated to assist in decision-making for the management of digital ulcers in patients with systemic sclerosis. The model showed that PI treatment was the most important predictor associated with reduced occurrence of digital ulcers.
Article
Rheumatology
Laura Ross, Susanna Proudman, Jennifer Walker, Wendy Stevens, Nava Ferdowsi, Alannah Quinlivan, Kathleen Morrisroe, Murray Baron, Mandana Nikpour
Summary: This study aimed to evaluate whether patient and physician global assessment of gastrointestinal tract (GIT) disease in systemic sclerosis (SSc) are linked to a meaningful change in disease status. Logistic regression analysis was used to assess the relationship between patient-reported and physician-assessed GIT disease status and symptoms, quality of life measures, and GIT disease severity. The study found that patient-reported worsening of GIT symptoms was associated with more severe GIT disease, while physician-assessed GIT disease activity was not significantly associated with disease severity or quality of life scores.
JOURNAL OF RHEUMATOLOGY
(2023)
Review
Clinical Neurology
Laura Ross, Penny McKelvie, Katrina Reardon, Huon Wong, Ian Wicks, Jessica Day
Summary: This study compared the diagnostic utility of needle muscle biopsy, conchotome biopsy, and open surgical biopsy. The results showed that moderate- to large-gauge needle muscle biopsy and conchotome technique have an equivalent diagnostic yield to open surgical biopsy when a histological diagnosis of myopathy is required.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2023)
Article
Rheumatology
Sophie Mavrogeni, Alessia Pepe, Luna Gargani, Cosimo Bruni, Emilio Quaia, George D. Kitas, Petros P. Sfikakis, Marco Matucci-Cerinic
Summary: Systemic sclerosis (SSc) is characterized by internal organ fibrosis, including the heart, leading to high morbidity and mortality. Cardiac magnetic resonance (CMR) can assess myocardial function and tissue characteristics in the same examination. The Lake Louise criteria (LLC) can be used to identify recent myocardial inflammation using CMR. Abnormal values include myocardial over skeletal muscle ratio, early gadolinium enhancement values, and epicardial/intramyocardial late gadolinium enhancement.
SEMINARS IN ARTHRITIS AND RHEUMATISM
(2023)
Review
Genetics & Heredity
Silvia Peretti, Sara Torracchi, Edda Russo, Francesco Bonomi, Elisa Fiorentini, Khadija El Aoufy, Cosimo Bruni, Gemma Lepri, Martina Orlandi, Maria Sole Chimenti, Serena Guiducci, Amedeo Amedei, Marco Matucci-Cerinic, Silvia Bellando Randone
Summary: This review highlights the application of pharmacomicrobiomics in the treatment of rheumatic diseases such as Rheumatoid Arthritis and Spondyloarthritis. It suggests that gut microbiota can influence the therapeutic response and efficacy of drugs, and future research in pharmacomicrobiomics may help identify effective biomarkers for treatment guidance and optimization in inflammatory arthritides.
Article
Rheumatology
Cosimo Bruni, Corrado Campochiaro, Jeska K. de Vries-Bouwstra
RHEUMATIC DISEASE CLINICS OF NORTH AMERICA
(2023)
Review
Rheumatology
Laura Ross, Nancy Maltez, Michael Hughes, Jan W. Schoones, Murray Baron, Lorinda Chung, Dilia Giuggioli, Pia Moinzadeh, Yossra A. Suliman, Corrado Campochiaro, Yannick Allanore, Christopher P. Denton, Oliver Distler, Tracy Frech, Daniel E. Furst, Dinesh Khanna, Thomas Krieg, Masataka Kuwana, Marco Matucci-Cerinic, Janet Pope, Alessia Alunno
Summary: A systematic literature review found that intravenous iloprost, phosphodiesterase-5 inhibitors, and atorvastatin are effective for the treatment of SSc digital ulcers. Bosentan can reduce the occurrence of future ulcers. Limited evidence supports the effectiveness of Janus kinase inhibitors, while immunosuppression or anti-platelet agents have insufficient data to support their use. Further research is needed to define the optimal treatment regimen.
Review
Rheumatology
Cosimo Bruni, Maya H. Buch, Aleksandra Djokovic, Giacomo De Luca, Raluca B. Dumitru, Alessandro Giollo, Ilaria Galetti, Alexia Steelandt, Konstantinos Bratis, Yossra Atef Suliman, Ivan Milinkovic, Anna Baritussio, Ghadeer Hasan, Anastasia Xintarakou, Yohei Isomura, George Markousis-Mavrogenis, Sophie Mavrogeni, Luna Gargani, Alida L. P. Caforio, Carsten Tschoepe, Arsen Ristic, Sven Plein, Elijah Behr, Yannick Allanore, Masataka Kuwana, Christopher P. Denton, Daniel E. Furst, Dinesh Khanna, Thomas Krieg, Renzo Marcolongo, Alessia Pepe, Oliver Distler, Petros Sfikakis, Petar Seferovic, Marco Matucci-Cerinic
Summary: The aim of this study was to establish consensus guidance on the screening, diagnosis, and follow-up of systemic sclerosis primary heart involvement. A systematic literature review was performed, and the extracted data were discussed to formulate overarching principles and guidance statements. The consensus emphasized the importance of patient counseling, differential diagnosis, multidisciplinary team management, and defining screening and diagnostic approaches. This guidance provides a foundation for standard of care and future feasibility studies.
JOURNAL OF SCLERODERMA AND RELATED DISORDERS
(2023)
Review
Rheumatology
Jessica L. Fairley, Laura Ross, Alannah Quinlivan, Dylan Hansen, Elizabeth Paratz, Wendy Stevens, Peter M. Kistler, Alex McLellan, Andre La Gerche, Mandana Nikpour
Summary: This study aimed to investigate the occurrence rate of sudden cardiac death (SCD), arrhythmia, and conduction defects in SSc patients. The findings showed that the annual incidence of SCD in SSc patients ranged from 1.0% to 3.3%, which is at least 10 times higher than the general population. Additionally, arrhythmias were common even in SSc patients without known or suspected SSc-associated heart involvement.
SEMINARS IN ARTHRITIS AND RHEUMATISM
(2023)
Article
Rheumatology
Jessica L. Fairley, Dylan Hansen, Laura Ross, Susanna Proudman, Joanne Sahhar, Gene-Siew Ngian, Jennifer Walker, Lauren Host, Kathleen Morrisroe, Diane Apostolopoulous, Nava Ferdowsi, Michelle Wilson, Maryam Tabesh, Wendy Stevens, Mandana Nikpour
Summary: This study describes the clinical phenotype and prognosis of patients with pulmonary arterial hypertension (PAH) with or without interstitial lung disease (ILD) in the Australian Scleroderma (SSc) Cohort Study. The study found that patients with both PAH and ILD or only PAH had worse prognosis compared to those with ILD alone. PAH conferred a poorer overall prognosis than extensive ILD.
ARTHRITIS RESEARCH & THERAPY
(2023)
Article
Rheumatology
Weijin Zhang, Guohai Huang, Kedi Zheng, Jianqun Lin, Shijian Hu, Shaoyu Zheng, Guangzhou Du, Guohong Zhang, Cosimo Bruni, Marco Matucci-Cerinic, Daniel E. Furst, Yukai Wang
Summary: The study aimed to establish and use a machine learning algorithm to predict possible risk factors for malignancy in IIM patients. Age, ALT<80U/L, and anti-TIF1-gamma were found to be risk factors, while ILD was a protective factor in constructing the prediction model. Compared with other machine learning algorithm models, the logistic regression (LR) model performed well in predicting malignancy in IIM. The established prediction model helps clinicians screen, evaluate, and follow up high-risk IIM patients by constructing a diagnostic nomogram.
CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
(2023)
Review
Clinical Neurology
Laura Ross, Penny McKelvie, Katrina Reardon, Huon Wong, Ian Wicks, Jessica Day
Summary: This study aimed to compare the diagnostic utility of needle muscle biopsy (NMB), conchotome biopsy, and open surgical biopsy in the assessment of neuromuscular disorders. The results showed that moderate- to large-gauge NMB and the conchotome technique had an equivalent diagnostic yield to that of an open surgical biopsy.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2023)
