Journal of Scleroderma and Related Disorders最新文献

{"title":"Design of CONQUEST, a novel, randomized, placebo-controlled, Phase 2b platform clinical trial to investigate new treatments for patients with early active systemic sclerosis with interstitial lung disease.","authors":"Dinesh Khanna, Luke B Evnin, Shervin Assassi, Wade W Benton, Gregory Gordon, Karina Maslova, Juergen Steffgen, Toby M Maher","doi":"10.1177/23971983241278079","DOIUrl":"10.1177/23971983241278079","url":null,"abstract":"<p><strong>Objective: </strong>Safe, effective therapies are urgently needed for patients with systemic sclerosis. However, clinical trial recruitment is challenging given the limited number of people with systemic sclerosis and further restrictions imposed by eligibility criteria. Innovative approaches are needed to accelerate development of new therapies. This article describes the rationale and trial design for CONQUEST (NCT06195072), a novel platform clinical trial sponsored by the Scleroderma Research Foundation, a not-for-profit organization.</p><p><strong>Methods: </strong>CONQUEST is a multicentre, double-blind, randomized, placebo-controlled, Phase 2b platform trial evaluating the efficacy, safety and pharmacodynamics of multiple investigational products to treat early active systemic sclerosis with interstitial lung disease versus placebo. The primary objective is to evaluate change from baseline to Week 52 in forced vital capacity (mL). Secondary objectives include evaluating changes from baseline to Week 52 in high-resolution computed-tomography-assessed lung involvement and dyspnoea, and overall treatment response (measured using the revised composite response index in diffuse systemic sclerosis score in participants with diffuse cutaneous systemic sclerosis).</p><p><strong>Results: </strong>Patients will be enrolled across more than 150 centres in over 25 countries. Recruitment started on 15 April 2024.</p><p><strong>Conclusion: </strong>As the first platform clinical trial in the rheumatology field, CONQUEST aims to meaningfully accelerate the development of new therapies for early active systemic sclerosis. Depending on regimen-specific results, trial data could be used to plan and design a Phase 3 trial or may be used alone or together with another registrational trial to establish substantial evidence of effectiveness and safety. The first molecules to be studied, amlitelimab and nerandomilast, both have a strong scientific rationale to modify underlying disease processes in systemic sclerosis.</p><p><strong>Clinicaltrialsgov: </strong>Platform Clinical Study for Conquering Scleroderma (CONQUEST); NCT06195072; https://www.clinicaltrials.gov/study/NCT06195072.</p>","PeriodicalId":17036,"journal":{"name":"Journal of Scleroderma and Related Disorders","volume":" ","pages":"23971983241278079"},"PeriodicalIF":1.4,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11559531/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142621267","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An evaluation of autonomic and gastrointestinal symptoms, and gastric emptying, in patients with systemic sclerosis.","authors":"Michael Hughes, Elizabeth Harrison, Ariane L Herrick, Simon Lal, John T McLaughlin","doi":"10.1177/23971983241288039","DOIUrl":"10.1177/23971983241288039","url":null,"abstract":"<p><strong>Objective: </strong>Assessment of gastrointestinal and autonomic symptoms in patients with systemic sclerosis, and possible associations with gastric emptying rate.</p><p><strong>Methods: </strong>Participant and patient disease-related characteristics were collected. Gastrointestinal and autonomic symptoms were assessed by the UCLA-SCTC GIT 2.0 and COMPASS-31 questionnaires, respectively. Potentially confounding gastrointestinal medications were discontinued where possible. Gastric emptying was assessed using a non-radioactive ¹³C sodium acetate isotope, end-expiratory breath samples collected at baseline and then serial timepoints up to 120 min.</p><p><strong>Results: </strong>In total, 49 participants were studied: 17 with systemic sclerosis with variable gastrointestinal involvement, and healthy matched (n = 17) and non-matched controls (n = 15), the last to control for the impact of age rather than disease on gastric emptying and autonomic function. The total mean (range) UCLA GIT 2.0 questionnaire for patients with systemic sclerosis was 0.63 (0.0-1.5) and for both healthy matched and non-matched controls was 0.04 (0.0-0.2), and was higher in patients with systemic sclerosis across all domains. The total mean (range) COMPASS-31 score for patients with systemic sclerosis patients was 32.2 (0.0-54.9) and for healthy matched- and non-matched controls: 7.45 (0.0-24.9) and 4.25 (0.0-2.1), respectively, again higher for patients with systemic sclerosis across all domains. No association was observed between patients' UCLA GIT 2.0 total score (s = -0.039, p = 0.38), total COMPASS 31 score (s = -0.108, p = 0.68), or COMPASS-31 GI domain (s = -0.051, p = 0.85) and gastric emptying rates.</p><p><strong>Conclusion: </strong>Gastrointestinal and autonomic symptoms are overrepresented in patients with systemic sclerosis but did not associate with gastric emptying rates.</p>","PeriodicalId":17036,"journal":{"name":"Journal of Scleroderma and Related Disorders","volume":" ","pages":"23971983241288039"},"PeriodicalIF":1.4,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11559523/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142622943","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Vitamin D association with systemic sclerosis and its clinical features: A systematic review, meta-analysis, and meta-regression.","authors":"Tarak Dhaouadi, Awatef Riahi, Taïeb Ben Abdallah, Yousr Gorgi, Imen Sfar","doi":"10.1177/23971983241288591","DOIUrl":"10.1177/23971983241288591","url":null,"abstract":"<p><strong>Objectives: </strong>The aim of this review was to summarize existing data on the contribution of Vitamin D level and/or deficiency/insufficiency to systemic sclerosis susceptibility and its clinical features.</p><p><strong>Methods: </strong>An electronic literature search for eligible studies among all papers published prior to 30 June 2024 was conducted through PubMed, EMBASE, Web of science, and Scopus databases. Meta-analyses estimating pooled raw mean differences, odds ratios, and Pearson <i>r</i> together with subgroup analyses and meta-regressions were performed for the association of Vitamin D with susceptibility to systemic sclerosis and disease presentation.</p><p><strong>Results: </strong>Combined analysis revealed a significant decrease in Vitamin D level in systemic sclerosis patients comparatively to healthy controls, with raw mean differences 95% CI = -11.68 [-15.43 to -7.92] ng/mL, <i>p</i> < 1 E-10. Likewise, Vitamin D insufficiency (Vitamin D < 30 ng/mL) and deficiency (<10 ng/mL) were significantly associated with systemic sclerosis; odds ratios 95% CI = 3.58 [2.59-4.95], <i>p</i> < 1 E-10 and odds ratios 95% CI = 7.67 [3.97-14.83], <i>p</i> < 1 E-10, respectively. Moreover, decreased Vitamin D level was significantly associated with interstitial lung disease occurrence (raw mean differences 95% CI = -3.61 [-6.93 to -0.3], <i>p</i> = 0.003), while Vitamin D deficiency was associated with increased systolic pulmonary arterial pressure, raw mean differences (95% CI = 4.17 [1.44-6.89], <i>p</i> = 0.003). Besides, Vitamin D level was negatively correlated with the modified Rodnan skin score, <i>r</i> (95% CI = -0.26 [-0.44 to -0.08], <i>p</i> = 0.004). Conversely, Vitamin D level was significantly increased in systemic sclerosis patients with cutaneous calcinosis, raw mean differences (95% CI = 4.18 [1.07-7.28], <i>p</i> = 0.008).</p><p><strong>Conclusion: </strong>This meta-analysis showed that decreased Vitamin D level was associated with susceptibility to systemic sclerosis, interstitial lung disease occurrence, increased systolic pulmonary arterial pressure, and higher modified Rodnan skin score. Conversely, calcinosis was found to be associated with increased Vitamin D level.</p><p><strong>Registration: </strong>This review has been registered on PROSPERO: CRD42024565045, available from: https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42024565045.</p>","PeriodicalId":17036,"journal":{"name":"Journal of Scleroderma and Related Disorders","volume":" ","pages":"23971983241288591"},"PeriodicalIF":1.4,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11559530/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142622330","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficacy and safety of digital nerve block for pain management during sharp debridement of digital ulcers in systemic sclerosis: A prospective observational study.","authors":"Riccardo Bixio, Francesca Mastropaolo, Francesca Nava, Olta Veliaj, Elena Fracassi, Ombretta Viapiana, Maurizio Rossini, Luca Idolazzi","doi":"10.1177/23971983241285206","DOIUrl":"10.1177/23971983241285206","url":null,"abstract":"<p><strong>Introduction: </strong>Systemic sclerosis (SSc) is a chronic autoimmune disease characterized by fibrosis and vascular abnormalities, often leading to the development of digital ulcers (DUs). DUs are painful and debilitating, significantly impacting patients' quality of life. Effective pain management during debridement is crucial, yet there is no consensus on the optimal approach. This study evaluates the efficacy and safety of digital nerve block (DNB) using lidocaine and mepivacaine for pain control during sharp debridement of DUs in SSc patients.</p><p><strong>Methods: </strong>This prospective observational study was conducted from September 2023 to May 2024 at the Rheumatology Operating Unit, University of Verona. Patients were randomized to receive either 1 mL of 2% lidocaine or 2% mepivacaine for DNB. Pain levels were assessed using a categorical grading scale during the injection and debridement. The outcomes were pain control and performance of lidocaine versus mepivacaine.</p><p><strong>Results: </strong>The cohort developed 46 ulcers. The pain was abolished in almost all patients. Lidocaine achieved faster anaesthesia (127.92 ± 34.32 s) compared with mepivacaine (252.65 ± 49.89 s, <i>p</i> < 0.001). Mepivacaine resulted in less pain during injection (<i>p</i> = 0.006). No significant difference in pain levels during debridement was observed between the two anaesthetics. Three mild adverse effects (Raynaud's phenomenon) were reported. All procedures were completed successfully, and 35 ulcers healed with a mean time of 6.1 ± 7.77 weeks.</p><p><strong>Conclusions: </strong>DNB with mepivacaine provides effective pain control during DU debridement in SSc patients, with lower injection site pain and comparable efficacy to lidocaine. The procedure is safe, well-tolerated and facilitates successful ulcer healing. Further studies with larger cohorts are warranted to confirm these findings.</p>","PeriodicalId":17036,"journal":{"name":"Journal of Scleroderma and Related Disorders","volume":" ","pages":"23971983241285206"},"PeriodicalIF":1.4,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11559528/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142621687","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The importance of body image and aesthetic medicine in systemic sclerosis.","authors":"Martina Orlandi, Amelia Spinella, Marco De Pinto, Gilda Sandri, Giorgio De Santis, Dilia Giuggioli","doi":"10.1177/23971983241285212","DOIUrl":"10.1177/23971983241285212","url":null,"abstract":"<p><p>Systemic sclerosis is a progressive fibrotic autoimmune disease which mainly affects young women causing fibrosis of the skin and internal organs. In systemic sclerosis patients, facial and hand alterations are significant as these may have an impact on body image. In fact, systemic sclerosis could cause disfigurement of the most visible parts of the body, hindering self-confidence and quality of life. Therefore, the assessment of body image in systemic sclerosis is crucial in order to optimize a tailored care of the patient. In the near future, the creation of a pathway involving dedicated specialists (psychologists, physiotherapists, dermatologists, and plastic surgeons) should become an integral part of the disease management.</p>","PeriodicalId":17036,"journal":{"name":"Journal of Scleroderma and Related Disorders","volume":" ","pages":"23971983241285212"},"PeriodicalIF":1.4,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11559588/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142621885","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Improving organisation to improve care: ERN ReCONNET organisational reference model for systemic sclerosis patients' care pathway.","authors":"Rosaria Talarico, Diana Marinello, Ilaria Palla, Sara Cannizzo, Ilaria Galetti, Sue Farrington, Silvia Aguilera, Jeanette Andersen, Eva Ceccatelli, Alain Cornet, Gema Cutillas, Marco Esteves, Charissa Frank, Catarina Leite, Gabi Niehaus, Elisabeth Perez Gomez, Katleen Polfliet, Silvia Sandulescu, Rita Schriemer, Simone Barsotti, Silvia Bellando-Randone, Lorenzo Beretta, Vera Bernardino, Goncalo Boleto, Stefano Bombardieri, Gerd Burmester, Ilaria Cavazzana, Veronica Codullo, Maurizio Cutolo, Virgil Dalm, Laura Damian, Alessandra Della Rossa, Andrea Doria, Meryem-Maud Farhat, João Eurico Fonseca, Eric Hachulla, Frédéric Houssiau, Maria Grazia Lazzaroni, Maarten Limper, Valentina Lorenzoni, Carlomaurizio Montecucco, Marta Mosca, Luc Mouthon, Ulf Müeller-Ladner, Micheline Pha, Cristina Ponte, Julia Spierings, Alberto Sulli, Anna Viola Taulaigo, Simone Ticciati, Angela Tincani, Natasha Toplak, Leopoldo Trieste, P M van Hagen, Jacob van Laar, Marie Vanthuyne, Barbara Vigone, Jeska K de Vries-Bouwstra, Margherita Zen, Giuseppe Turchetti, Vanessa Smith, Marco Matucci Cerinic","doi":"10.1177/23971983241269109","DOIUrl":"10.1177/23971983241269109","url":null,"abstract":"<p><strong>Objective: </strong>To optimise the organisation of care and encourage the adoption of good clinical practices, the RarERN Path^© methodology was designed within ERN ReCONNET. The aim of our work was to report the application of RarERN Path^© on systemic sclerosis within the ERN ReCONNET centres, providing a feasible and flexible organisational reference model for optimising the systemic sclerosis care pathway in different countries.</p><p><strong>Methods: </strong>RarERN Path^© is a six-phase methodology which enables the creation of a reference organisational model co-designed on the basis of the expertise of different stakeholders. It foresees six phases, ranging from the map of existing patients' care pathways and patients' stories, to the consensus on a common organisational patient care pathways, and its key performance indicators definition.</p><p><strong>Results: </strong>The agreed reference model highlights the importance of having an organisational flow for referrals that foresees how patients may access directly the specialised unit from the different referrals. Specific specialised visits were considered as mandatory to be organised and they included cardiologist, pneumologist, gastroenterologist, psychologist, nephrologist, dermatologist, wound care specialist/nurses and other healthcare professionals (such as nurses, social workers and nutritional counselling). Moreover, specific services related to therapy were highlighted as strongly recommended to be organised, mainly represented by infusion therapy and wound care, as well as occupation therapy and physiotherapy.</p><p><strong>Conclusion: </strong>The organisational model emerged from our investigation emphasises that the organisation of specific services for systemic sclerosis treatment should be organised as a solid support for implementing the existing recommendations on systemic sclerosis management in real life.</p>","PeriodicalId":17036,"journal":{"name":"Journal of Scleroderma and Related Disorders","volume":" ","pages":"23971983241269109"},"PeriodicalIF":1.4,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11559522/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142621843","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Views of nutrition needs in patients with systemic sclerosis.","authors":"De-Arne Samm, Aimee Macoustra, Rhiannon Crane, Leah McWilliams, Susanna Proudman, Lee-Anne S Chapple","doi":"10.1177/23971983241264868","DOIUrl":"10.1177/23971983241264868","url":null,"abstract":"<p><strong>Background and aims: </strong>Systemic sclerosis is a debilitating inflammatory condition synonymous with gastrointestinal symptoms which have the potential to impact dietary intake and nutritional status. This study aimed to describe symptoms experienced by patients with systemic sclerosis that may impact on dietary intake and assess nutrition education preferences in this cohort.</p><p><strong>Methods: </strong>A 24-item online qualitative and quantitative survey distributed via REDCap^® was conducted in adult patients (aged ⩾18 years) living with systemic sclerosis and attending outpatient services at a single healthcare setting from January to March 2022. Data were collected on demographics, symptoms that may impact dietary intake, nutrition priorities and preferred nutrition education models. Data are mean ± standard deviation or number (%).</p><p><strong>Results: </strong>Of 322 eligible patients, 156 (48%) participated (63 ± 12 years, 86% female, body mass index 27 ± 7 kg/m²). Most patients experienced gastrointestinal conditions (n = 123/155; 79%), which occurred daily in 26% (n = 40/155) of patients. A third of patients (n = 48/156; 31%) reported diet manipulation for symptom management. Recent weight loss was common (n = 36/154; 23% of patients). Less than a third of patients had seen a dietitian (n = 45; 29%), while 69% of patients (n = 107) desired dietetic consultancy. The preferred methods of consultation were written resources and face-to-face, respectively, and systemic sclerosis symptom management (n = 100; 64%) and losing weight (n = 53; 34%) were the most desired education topics reported.</p><p><strong>Conclusion: </strong>Gastrointestinal conditions are common and occur frequently in patients with systemic sclerosis. Patients want to engage with dietetics services to better manage symptoms via face-to-face consultations and written resources. These results will inform future dietetic service delivery.</p>","PeriodicalId":17036,"journal":{"name":"Journal of Scleroderma and Related Disorders","volume":"9 3","pages":"216-222"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11462576/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142400577","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficacy assessment of intravenous immunoglobulin for gastrointestinal involvement in systemic sclerosis using UCLA SCTC GIT: Case-based review.","authors":"Marcelo Neto, Fernando Albuquerque, João Oliveira, Maria João Cadório, Maria João Salvador, Tânia Santiago","doi":"10.1177/23971983241273852","DOIUrl":"10.1177/23971983241273852","url":null,"abstract":"<p><strong>Objectives: </strong>To summarize the published evidence in the literature on the use of intravenous immunoglobulin in gastrointestinal tract involvement in systemic sclerosis patients and report the experience of our department.</p><p><strong>Methods: </strong>A systematic literature review was performed; and a literature search was conducted in MEDLINE and Embase until 1/5/2024, using the participants, intervention, comparator and outcomes framework. Only full-text articles involving systemic sclerosis adults, submitted to intravenous immunoglobulin (at least one administration) to treat primary gastrointestinal tract manifestations. The outcome was the University of California at Los Angeles Scleroderma Clinical Trial Consortium Gastrointestinal Tract 2.0 score to evaluate response to treatment. Two reviewers performed the assessment of data extraction and synthesis, independently.</p><p><strong>Results: </strong>Four papers (two case reports and two retrospective studies) out of 35 references were included. In addition, we added two systemic sclerosis patients from our department in this review. In 25 systemic sclerosis patients, with various gastrointestinal tract manifestations, the intravenous immunoglobulin therapy was found to improve digestive tract symptoms in SSc patients, as shown by the decrease in the scores of University of California at Los Angeles Scleroderma Clinical Trial Consortium Gastrointestinal Tract 2.0. No adverse events were reported, except for one case of low-grade fever post-administration.</p><p><strong>Conclusion: </strong>The results from this systematic literature review based on case series suggest that intravenous immunoglobulin may improve gastrointestinal tract symptoms assessed by the University of California at Los Angeles Scleroderma Clinical Trial Consortium Gastrointestinal Tract 2.0 scale, with only minor reported adverse events, suggestive of an acceptable safety profile. We believe that this systematic literature review will contribute to shed light on the efficacy and safety aspects of intravenous immunoglobulin treatment in the management of gastrointestinal tract symptoms; and multicenter randomized placebo-controlled trials are urgently needed to foster progress in this field.</p>","PeriodicalId":17036,"journal":{"name":"Journal of Scleroderma and Related Disorders","volume":" ","pages":"23971983241273852"},"PeriodicalIF":1.4,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11559525/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142621841","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Atypical morphoea, a herald of two malignancies: Lung adenocarcinoma and a neuroendocrine tumour.","authors":"Harmeet Bhullar, Miki Wada, Mandana Nikpour, Amanda M Saracino","doi":"10.1177/23971983241254442","DOIUrl":"10.1177/23971983241254442","url":null,"abstract":"<p><strong>Introduction: </strong>Morphoea is a disorder characterised by fibrosis and inflammation of the skin and on rare occasions can be precipitated by malignancy. Here, we describe a case of morphoea unmasking two malignancies.</p><p><strong>Case description: </strong>A 73-year-old woman presented with circumferential lower limb skin thickening, associated with violaceous, doughy oedema and significantly impaired mobility. Histology confirmed dermal sclerosis with no increased mucin and broader investigations excluded systemic sclerosis, scleromyxoedema and scleroedema. An atypical morphoea was diagnosed. In the context of atypical and subsequently treatment-resistant disease, further imaging uncovered a lung adenocarcinoma which was promptly treated. Despite this, the patient's atypical oedematous skin sclerosis continued to progress proximally, and she developed flatulence, bloating and atypical flushing. This prompted further investigation, which revealed a metastatic neuroendocrine tumour. The patient was commenced on octreotide, with rapid improvement in all her cutaneous and systemic symptoms.</p><p><strong>Conclusion: </strong>Atypical morphoea can be a herald for an underlying malignancy, representing a paraneoplastic presentation. Progressive treatment-resistant morphoea may be an indicator of metastatic disease, or in our case a second malignancy.</p>","PeriodicalId":17036,"journal":{"name":"Journal of Scleroderma and Related Disorders","volume":"9 3","pages":"NP1-NP4"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11457777/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142391425","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"N-terminal pro-brain natriuretic peptide is associated with pulmonary hypertension or diastolic dysfunction in patients with systemic sclerosis: An Australian prospective cross-sectional study.","authors":"Francis J Ha, Zoe Brown, Wendy Stevens, David Prior, Laura Ross, Nava Ferdowsi, Mandana Nikpour, Andrew T Burns","doi":"10.1177/23971983241249209","DOIUrl":"10.1177/23971983241249209","url":null,"abstract":"<p><strong>Introduction: </strong>Pulmonary arterial hypertension and left ventricular diastolic dysfunction are associated with significant morbidity and mortality in systemic sclerosis. N-terminal pro-brain natriuretic peptide has been proposed as part of composite screening algorithms for pulmonary arterial hypertension. Our aim was to assess the prevalence of pulmonary hypertension and diastolic dysfunction, and evaluate their association with serum N-terminal pro-brain natriuretic peptide in systemic sclerosis patients.</p><p><strong>Methods: </strong>Patients with systemic sclerosis were prospectively enrolled to undergo N-terminal pro-brain natriuretic peptide testing and transthoracic echocardiography at a tertiary Australian centre from January to October 2022. We collected demographic and transthoracic echocardiography variables including pulmonary hypertension estimated by tricuspid regurgitant velocity and diastolic dysfunction assessed by the ASE/EACVI 2016 guidelines. Pearson's correlation coefficient was used to evaluate association between N-terminal pro-brain natriuretic peptide and echocardiographic parameters.</p><p><strong>Results: </strong>Sixty-one patients were enrolled (median age = 62 years (interquartile range = 55-69 years); 84% female). Two-thirds of patients had limited systemic sclerosis (40/61). Five patients (8%) had high likelihood of pulmonary hypertension by transthoracic echocardiography. Seven patients (11%) had diastolic dysfunction; however, seven patients (11%) had indeterminate diastology. Six patients underwent right heart catheterisation, with five patients diagnosed with pulmonary hypertension. N-terminal pro-brain natriuretic peptide in patients with pulmonary hypertension or diastolic dysfunction was significantly higher (median = 207 and 226 pg/mL, respectively) compared to patients without either condition (median = 69 pg/mL, p = 0.01). N-terminal pro-brain natriuretic peptide showed a statistically significant although limited correlation with estimated pulmonary pressures measured by tricuspid regurgitant velocity (r = 0.44, p = 0.002) and left ventricular filling pressures (r = 0.27, p = 0.04).</p><p><strong>Conclusion: </strong>Pulmonary hypertension and diastolic dysfunction are both observed in systemic sclerosis. N-terminal pro-brain natriuretic peptide is associated with both conditions; however, it cannot distinguish between the two disease processes. Right heart catheterisation may be required to make this distinction.</p>","PeriodicalId":17036,"journal":{"name":"Journal of Scleroderma and Related Disorders","volume":"9 3","pages":"178-184"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11457770/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142391428","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}