Journal of Scleroderma and Related Disorders最新文献

Nephrogenic systemic fibrosis typically occurs in patients with renal failure and is strongly associated with gadolinium exposure through stimulation of macrophage-activated fibrosis. Patients present with prominent fibrosis of the skin and internal organs. Quality of life is significantly diminished due to impairment from restrictive mobility of large and small joint contractures, pain, and ensuing psychological stress. Nephrogenic systemic fibrosis can be severe and life-threatening. Nephrogenic systemic fibrosis patients reliant on hemodialysis with cutaneous symptoms, defined as hyperpigmentation, hardening, and tethering of skin on the extremities, experience rates of mortality as high as 48%. Physician awareness and preventive strategies coincided with a reduction in the incidence of nephrogenic systemic fibrosis. Several treatments, of which physical therapy may be a key adjuvant, have been used to treat nephrogenic systemic fibrosis, with variable and inconsistent results, lacking wide consensus. Improvement of renal function may improve nephrogenic systemic fibrosis, with some patients demonstrating stabilization or improvement after renal transplantation or resolution of acute renal failure. Imatinib, a tyrosine kinase inhibitor, demonstrates antifibrotic effects in the skin and recently was used to successfully treat nephrogenic systemic fibrosis. We report a case of severe nephrogenic systemic fibrosis with extensive skin fibrosis causing extrapulmonary restriction who demonstrated improved lung function following treatment with imatinib.

Gastrointestinal involvement is a common complication in systemic sclerosis patients and must be suspected and investigated already in the early stages of the disease. Gastrointestinal symptoms and complications-such as gastroesophageal reflux disease, intestinal pseudo-obstruction, malnutrition, diarrhea, constipation, and small intestinal bacterial overgrowth-severely impair systemic sclerosis patients' quality of life and affect their prognosis. Although some pathogenetic aspects of the gastrointestinal involvement in systemic sclerosis remain unclear, defining the characteristics of the microbiota and its role could help in risk stratification, selection of candidates for microbiota-targeted therapies, prediction of standard treatment efficacy, and prognosis of systemic sclerosis patients. Finally, understanding how to modify the microbiota composition may represent an important therapeutic approach to target gastrointestinal involvement in systemic sclerosis.

Background: Malnutrition is common in systemic sclerosis and patients are frequently underweight. However, the balance between assessed dietary energy intake versus expenditure has been neglected to date. This study aimed to assess energy (dietary) intakes and expenditures and to compare discrepancies in systemic sclerosis.

Methods: Thirty-six outpatients with systemic sclerosis completed the study. Demographics and clinical data were recorded. Functional questionnaires were completed. Predicted energy requirements were calculated. Over a consecutive 3-day period, patients completed an estimated food diary and wore a specialist energy expenditure monitor (SenseWear^® Armband). Assessments of intake and expenditure were compared for individual patients, and the impact according to patient demographics, clinical manifestations and disease severity evaluated.

Results: Energy intake did not correlate with predicted (s = 0.117; p = 0.511) or measured (s = -0.039; p = 0.825) expenditures. Predicted and measured energy expenditures correlated, but actual values differed for individuals (intraclass correlation = 0.62; 95% limits of agreement = -459 to 751 kcal). Respiratory involvement was negatively correlated with number of steps (s = -0.350; p = 0.04) and time spent lying (s = 0.333; p = 0.05). There was a significant correlation between body mass index and predicted versus measured energy discrepancy (s = 0.41; p = 0.02), and this discrepancy was greater with higher body mass indices.

Conclusion: There was no correlation between intake and either predicted or measured energy expenditure. Predicted and measured energy expenditures were strongly correlated yet differed for the individual patient. In patients with systemic sclerosis, where energy expenditure must be accurately assessed, it should be directly measured.

Primary heart involvement is frequent in systemic sclerosis, even though often sub-clinical, and includes cardiac abnormalities that are predominantly attributable to systemic sclerosis rather than other causes and/or complications. A timely diagnosis is crucial to promptly start the appropriate therapy and to prevent the potential life-threatening early and late complications. There is little evidence on how to best manage systemic sclerosis-primary heart involvement as no specific treatment recommendations for heart disease are available, and a shared treatment approach is still lacking. The objective of this review is to summarize the state of the art of current literature and the overall management strategies and therapeutic approaches for systemic sclerosis-primary heart involvement. Novel insights into pathogenic mechanisms of systemic sclerosis-primary heart involvement are presented to facilitate the comprehension of therapeutic targets and novel treatment strategies.

Background: A higher risk of osteoporotic fracture was described in systemic sclerosis patients than in healthy patients.

Objective: To evaluate the relation between osteoporotic fracture risk measured by the scanographic bone attenuation coefficient of the first lumbar vertebra (SBAC-L1) on computed tomography (CT) scan and the presence of ectopic calcifications: vascular, valvular and spinal.

Methods: This monocentric retrospective study was performed on patients followed between 2000 and 2014 at Nancy University Hospital. Systemic sclerosis patients, according to ACR/EULAR 2013 criteria, followed from 2000 to 2014 and who underwent, during their follow-up, a CT including the first lumbar vertebra were included. The SBAC-L1 was measured with a threshold set at 145 Hounsfield units (HU). Vascular and spinal calcifications were studied on CT. For vascular calcifications, the Agatston score was used. Valvular calcifications were studied on echocardiography.

Results: A total of 70 patients were included (mean age: 62.3 (±15.6) years, women 88.5%). The mean SBAC-L1 was 157.26 (±52.1) HU, and 35 patients (50%) presented an SBAC-L1 ⩽ 145 HU. The reproducibility of the calcification evaluation was good, with kappa coefficients varying between 0.63 and 1. In univariate analysis, spinal and vascular calcifications were associated with an SBAC-L1 ⩽ 145 HU, with ORs of 13.6 (1.6-113.3) and 8 (95%CI: 2.5-25.5), respectively. In multivariate analysis, the SBAC-L1 was not associated with the presence of any ectopic calcifications. The SBAC-L1 decreased with age (p = 0.0001).

Conclusion: Patients with systemic sclerosis with an SBAC-L1 ⩽ 145 HU were older, but they did not have more ectopic calcification.

Trial registration: The ethics committee of Nancy Hospital agreed with this study (referral file number 166). This study was designed in accordance with the general ethical principles outlined in the Declaration of Helsinki.

Objective: Severe digital ischemia, including digital ulcers and gangrene, is considered rare in patients with antisynthetase antibodies. This study aimed to elucidate the clinical features of antisynthetase-positive patients complicated with digital ulcers and/or gangrene using a systematic literature review and case series in a single-center cohort.

Methods: A systematic literature review was conducted to identify reports describing antisynthetase-positive cases with digital ulcers and/or gangrene. Our cohort of consecutive patients with antisynthetase antibodies was stratified by the history of severe digital ischemia. Demographic and clinical features and outcomes in patients with severe digital ischemia identified in the systematic literature review and our cohort were compared with those in patients without severe digital ischemia in our cohort.

Results: The systematic literature review revealed 12 antisynthetase-positive patients with severe digital ischemia from one case series and eight case reports. Seven (7%) of 100 patients with antisynthetase antibodies in our cohort had a record of severe digital ischemia. Severe digital ischemia was often found at presentation and was associated with the classification of systemic sclerosis with or without myositis overlap. Clinical features associated with severe digital ischemia in antisynthetase-positive patients included Raynaud's phenomenon (p < 0.001), digital pitting scars (p = 0.001), and nailfold capillary abnormality (p = 0.02). Outcomes of severe digital ischemia were generally favorable with vasodilators.

Conclusion: Severe digital ischemia is an overlooked complication in antisynthetase-positive patients. Antisynthetase antibodies should be measured in patients presenting with digital ulcers or gangrene, especially in those with systemic sclerosis phenotype and features associated with antisynthetase antibodies in the absence of systemic sclerosis-specific autoantibodies.

Background: Systemic sclerosis may affect male and female fertility. Premature ovarian failure has been reported in female systemic sclerosis patients, but the effects on male fertility in systemic sclerosis have not been studied.

Objectives: We aimed to determine the prevalence and clinical associations with primary hypogonadism among male systemic sclerosis patients.

Methods: This was a cross-sectional pilot study, including 30 adult male systemic sclerosis patients attending the Scleroderma Clinic, Khon Kaen University. Testosterone deficiency symptoms were assessed using the Aging Males' Symptoms Rating Scale, urological examination, and blood testing (for total testosterone, free testosterone, follicle-stimulating hormone, and luteinizing hormone). We excluded patients with congenital hypogonadism and any acquired disorders of the testes and genitalia. The definition of primary hypogonadism was based on the International Society for the Study of the Aging Male 2015 diagnostic criteria for hypogonadism.

Results: Seven patients met the definition of primary hypogonadism-a prevalence of 23.3% (95% confidence interval: 9.9-42.3). The respective mean age and mean systemic sclerosis duration was 59.4 ± 11.9 and 5.5 ± 4.7 years. Older age at onset, high triglyceride level, and older age starting corticosteroid treatment were significantly associated with primary hypogonadism (p = 0.02, 0.02, and 0.03, respectively). Systemic sclerosis subset, disease severity, and immunosuppressant use were not associated with primary hypogonadism among Thai male systemic sclerosis patients.

Conclusion: Around one-quarter of male systemic sclerosis patients had primary hypogonadism. Elderly onset of systemic sclerosis, hypertriglyceridemia, and late corticosteroid treatment were risk factors for developing primary hypogonadism.

Patients with systemic sclerosis are at high risk of developing systemic sclerosis-associated interstitial lung disease. Symptoms and outcomes of systemic sclerosis-associated interstitial lung disease range from subclinical lung involvement to respiratory failure and death. Early and accurate diagnosis of systemic sclerosis-associated interstitial lung disease is therefore important to enable appropriate intervention. The most sensitive and specific way to diagnose systemic sclerosis-associated interstitial lung disease is by high-resolution computed tomography, and experts recommend that high-resolution computed tomography should be performed in all patients with systemic sclerosis at the time of initial diagnosis. In addition to being an important screening and diagnostic tool, high-resolution computed tomography can be used to evaluate disease extent in systemic sclerosis-associated interstitial lung disease and may be helpful in assessing prognosis in some patients. Currently, there is no consensus with regards to frequency and scanning intervals in patients at risk of interstitial lung disease development and/or progression. However, expert guidance does suggest that frequency of screening using high-resolution computed tomography should be guided by risk of developing interstitial lung disease. Most experienced clinicians would not repeat high-resolution computed tomography more than once a year or every other year for the first few years unless symptoms arose. Several computed tomography techniques have been developed in recent years that are suitable for regular monitoring, including low-radiation protocols, which, together with other technologies, such as lung ultrasound and magnetic resonance imaging, may further assist in the evaluation and monitoring of patients with systemic sclerosis-associated interstitial lung disease. A video abstract to accompany this article is available at: https://www.globalmedcomms.com/respiratory/Khanna/HRCTinSScILD.

Objective: Systemic sclerosis is an autoimmune condition with significant morbidity and mortality despite modern medical therapies. The goal of this investigation was to comprehensively analyze all reasons for hospitalization and in-hospital death of systemic sclerosis patients.

Methods: We conducted a retrospective analysis of the adult systemic sclerosis hospitalizations from the 2016-2018 National Inpatient Sample. We included patients with a primary or secondary diagnosis of systemic sclerosis and compared them to the group without the disease. The incidence of inpatient death and total hospitalization charges were recorded along with the most frequent principal diagnoses for systemic sclerosis hospitalizations and mortality categorized into subgroups.

Results: There were 94,515 adult systemic sclerosis hospitalizations recorded in the 2016-2018 National Inpatient Sample database. Systemic sclerosis patients had higher inpatient mortality compared to the non-systemic sclerosis group (4.5% vs 2.2%, respectively, p < 0.0001), were more likely to be female (84% vs 58%, p < 0.0001), had a longer mean length of stay (6.1 vs 4.7 days, p < 0.0001), and greater mean total hospital charges ($70,018 vs $53,556, p < 0.0001). Sepsis, unspecified organism (A41.9) was the most common principal diagnosis for both hospitalized and deceased systemic sclerosis patients. Cardiovascular diagnoses (21.9%) were the most common reasons for hospitalization and infectious (28%)-for in-hospital death.

Conclusion: Our analysis of the National Inpatient Sample database from 2016 to 2018 showed that infections and cardiovascular diseases were a significant cause of morbidity and mortality among hospitalized systemic sclerosis patients. Sepsis was the most frequent specific diagnosis for both hospitalization and inpatient deaths. These results stress the importance of early recognition of life-threatening infections in this patient population.

Introduction: Most pulmonary vasodilators are administered orally; however, in patients with pulmonary hypertension undergoing gastrointestinal surgery, a switch to parenteral drugs is needed. Parenteral pulmonary vasodilators carry a risk of infection and reduced quality of life owing to long-term central venous catheterization; therefore, it is preferable to switch them to oral vasodilators after surgery. Here, we present the case of a patient with systemic sclerosis complicated by pulmonary hypertension and colon cancer, for which treatment was successfully switched from epoprostenol to selexipag postoperatively.

Case description: A 59-year-old woman, who was diagnosed with mixed group I and III pulmonary hypertension and systemic sclerosis, was on oral triple pulmonary vasodilators for pulmonary hypertension and Raynaud's phenomenon. She was diagnosed as having colon cancer 3 months before admission. Despite the severe pulmonary condition and treatment with oral triple pulmonary vasodilators, colon cancer resection surgery was performed with the management for pulmonary hypertension through multidisciplinary treatments in collaboration with cardiology specialists. Medications for patients with pulmonary hypertension undergoing gastrointestinal surgery need to be switched from oral vasodilators to epoprostenol perioperatively. On postoperative day 19, 0.4 mg/day of selexipag was administered with epoprostenol. Subsequently, the epoprostenol dosage was gradually decreased, and selexipag was increased. On postoperative day 30, the dose of selexipag was increased to 1.2 mg/day and epoprostenol was discontinued. The patient was discharged on postoperative day 40.

Conclusion: In our case, transition from epoprostenol to selexipag contributed to a more useful management strategy for systemic sclerosis and pulmonary hypertension in the postoperative period.