Anti-phospholipid syndrome leading to digital ischaemia and rare organ complications in systemic sclerosis and related disorders

Antiphospholipid syndrome (APS) is an acquired, autoimmune thrombophilia that can occur as a primary disorder (with no associated disease) or secondary to infection, medication usage and autoimmune rheumatic diseases (ARDs). The association between APS and systemic lupus erythematosus (SLE) is well established, and practicing rheumatologists check for APS antibodies in the routine assessment of SLE, particularly if clinical features such as thrombotic events or pregnancy loss are present. APS secondary to systemic sclerosis (SSc)-related disorders is less widely recognised and easily overlooked. We describe 5 cases that highlight the varied breadth of clinical manifestations of APS in the context of SSc and related disorders. These cases range from uncomplicated Raynaud’s phenomenon, digital ulceration/necrosis, critical digital ischaemia/gangrene and rare internal organ complications of APS in SSc-spectrum disorders. To our knowledge, our cases include the first reported case of secondary APS contributing to digital necrosis in the context of RACAND syndrome (Raynaud’s phenomenon, anti-centromere antibodies and necrosis of the digits) and the first reported case of secondary APS in SSc causing posterior reversible encephalopathy syndrome (PRES). The case series is accompanied by a comprehensive review of the literature relevant to each case. Rheumatologists should be alert to the possibility of APS in SSc-spectrum disorders and should routinely check APS antibodies in all patients at diagnosis, and again later in the disease course if new features emerge that could indicate the presence of thrombotic events or other recognised APS manifestations.Key points• APS should be considered in all patients with digital ischaemic symptoms.• APS may be an important driver of SSc-related digital ulceration/necrosis.• Identification of SSc-associated APS opens up new therapeutic options for acute management and secondary prevention.</p

Behaviour change interventions for the management of Raynaud's phenomenon : a systematic review protocol

Introduction Raynaud's phenomenon (RP) describes excessive peripheral vasospasm to cold exposure and/or emotional stress. RP episodes are associated with digital colour changes, pain and reduced quality of life. Pharmacological interventions are of low to moderate efficacy and often result in adverse effects such as facial flushing and headaches. Recommended lifestyle and behavioural interventions have not been evaluated. The objectives of the proposed systematic review are to assess the comparative safety and efficacy of behaviour change interventions for RP and identify what we can learn to inform future interventions. Methods and analysis Studies eligible for inclusion include randomised controlled trials testing behaviour change interventions with a control comparator. A comprehensive search strategy will include peer review and grey literature up until 30 April 2017. Search databases will include Medline, Embase, PsychINFO and Cochrane. Initial sifting, eligibility, data extraction, risk of bias and quality assessment will be subject to review by two independent reviewers with a third reviewer resolving discrepancies. Risk of bias assessment will be performed using Cochrane risk of a bias assessment tool with quality of evidence assessed using Grading of Recommendations Assessment, Development and Evaluation(GRADE). A meta-analysis will be performed if there are sufficient data. Two subgroup analyses are planned: primary versus secondary RP outcomes; comparison of theoretically informed interventions with pragmatic interventions. Ethics and dissemination This review does not require ethical approval as it will summarise published studies with non-identifiable data. This protocol complies with the Preferred Reporting Items for Systematic Review and Meta-Analysis Protocols (PRISMA-P) guidelines. Findings will be disseminated in peer-reviewed articles and reported according to PRISMA. This review will make a significant contribution to the management of RP where no review of behaviour-change interventions currently exist. The synopsis and protocol for the proposed systematic review is registered in the International Prospective Register of Systematic Reviews (registration number CRD42017049643)

Impact of Covid-19 on clinical care and lived experience of systemic sclerosis:An international survey from EURORDIS-Rare Diseases Europe

INTRODUCTION: Outcomes related to Covid-19 in systemic sclerosis patients could be influenced by internal organ involvement and/or immunosuppressive treatment, leading to efforts to shield patients from Covid-19 transmission. We examined the impact of Covid-19 on the lived experience of systemic sclerosis with regards to other aspects of daily living including occupation and emotional well-being. METHOD: Individuals with systemic sclerosis or relatives/carers participated in an online survey, disseminated through international patient associations and social media pages, designed to examine the impact of Covid-19 on living with a rare disease. RESULTS: Responses from 121 individuals (98% were patients with systemic sclerosis) from 14 countries were evaluable. Covid-19 was considered a probable/definite personal threat (93%) or threat for the individual they care for (100%). Approximately two-thirds of responders reported either cancellation or postponement/delay to appointments, diagnostic tests, medical therapies at home (e.g. infusions), surgery or transplant, psychiatry follow-up or rehabilitation services. Twenty-six percent reported at least one systemic sclerosis medicine/treatment had been unavailable, and 6% had to either stop taking usual medications or use an alternative. Most reported online consultations/telemedicine via phone (88%) and online (96%) as being ‘fairly’ or ‘very’ useful. Respondents reported tensions among family members (45%) and difficulty overcoming problems (48%). Restrictions on movement left around two-thirds feeling isolated (61%), unhappy and/or depressed (64%), although the majority (85%) reported a strengthening of the family unit. CONCLUSION: Covid-19 has resulted in significant impact on the clinical-care and emotional well-being of systemic sclerosis patients. Changes to clinical care delivery have been well-received by patients including telemedicine consultations

Exploring the patient experience of digital ulcers in systemic sclerosis

Digital ulcers are common in patients with systemic sclerosis, affecting over half of patients during the course of their disease. For some patients, digital ulcers occur as isolated phenomena; whereas, for others, digital ulceration is recurrent, and often refractory to intervention. Demonstrating treatment efficacy for digital ulcer disease has typically focussed on clinician opinion of ulcer healing and new ulcer occurrence. Advances in management have improved outcomes which may have had the unfortunate effect of rendering traditional trial endpoints less effective at demonstrating treatment efficacy. Despite recent improvements in management, our work is not complete and digital ulceration remains a major cause of morbidity for many patients with systemic sclerosis. This review shall examine the patient experience of digital ulcers in systemic sclerosis. We shall consider how a detailed understanding of the severity and burden of digital ulceration, aetiopathogenesis, and their impact on emotional health, function, work and social participation might inform the development of novel clinical trial outcomes that can support future advances in the assessment and management of digital ulceration in systemic sclerosis.</p

Fulminant immune-mediated necrotising myopathy (IMNM) mimicking myocardial infarction with non-obstructive coronary arteries (MINOCA)

A 74-year-old man, with inflammatory arthritis, recently commenced on adalimumab, presented with a 4-week history of left-sided chest pain, malaise and shortness of breath. Admission ECG showed age-indeterminate left bundle branch block. Troponin T was 4444 ng/L (normal range <15 ng/L) and acute coronary syndrome treatment was commenced. Catheter angiogram revealed mild-burden non-obstructive coronary disease. Cardiac magnetic resonance (CMR) was performed to refine the differential diagnosis and demonstrated no myocardial oedema or late gadolinium enhancement. Extracardiac review highlighted oedema and enhancement of the left shoulder girdle muscles consistent with acute myositis. Creatine kinase was subsequently measured and significantly elevated at 7386 IU/L (normal range 30–200 IU/L in men). Electrophoresis clarified that this was of predominantly skeletal muscle origin. Myositis protocol MRI revealed florid skeletal muscle oedema. The MR findings, together with positive anti-Scl-70 antibodies, suggested fulminant immune-mediated necrotising myopathy presenting as a rare mimic of myocardial infarction with non-obstructive coronary arteries, diagnosed by careful extracardiac CMR review

Effect of coping strategies on patient and physician perceptions of disease severity and disability in systemic sclerosis

Objective. Systemic sclerosis (SSc) results in impaired function, disability, and reduced health-related quality of life. We investigated the effect of coping strategies on the patient global assessment of health (PtGA) and Health Assessment Questionnaire–Disability Index (HAQ-DI), after controlling for clinical characteristics and disease activity. We also explored the relationship between coping strategies and the correlation between the PtGA and physician global assessment (PGA) in SSc. Methods. We undertook posthoc analyses using baseline data obtained from the Raynaud Symptom Study (RSS). The PtGA, Coping Strategies Questionnaire, Pain Catastrophizing Scale, and Scleroderma Health Assessment Questionnaire were collected alongside the PGA, clinical characteristics, and patient demographics. Multivariable linear regression models and correlations were used to evaluate the relationship between coping strategies with the PtGA, HAQ-DI, and PGA. Results. Of the 107 patients with SSc enrolled in the RSS, there were sufficient data available for the analysis of 91 participants. The mean PtGA was 40/100 (SD 27) and the mean HAQ-DI was 0.87/3.0 (SD 0.73). After controlling for clinical and patient demographics, pain catastrophizing and maladaptive coping skills were significantly associated with the PtGA and HAQ-DI scores (P &lt; 0.05 for both), but not the PGA. Conclusion. The effect of coping strategies on PtGA and HAQ-DI (but not PGA in SSc) could influence the result of composite measures incorporating these outcome measures. Interventions to improve patient coping skills may support increased resilience and improve patient-perceived functional status and PtGA in SSc.</p