Objectives
Although dyslipidemia is a strong risk factor for thrombosis in antiphospholipid syndrome (APS), it has been poorly studied. This study aimed to assess lipids profile and risk factors for ...unachieved cholesterol levels in a real-life APS population.
Methods
Inclusion criteria were: APS diagnosis according to international classification criteria, referring to the out-patients clinic of our tertiary care center for their follow-up, and having a blood sample collection for lipids levels determination. Cholesterol level targets for each patient were defined according to 2019 ESC/EAS guidelines for the management of dyslipidemia.
Results
Between January 2020 and April 2021, 114 APS patients were included (male 37 (32.5%); mean age 49 ± 14 years). Among them, 40 (35.1%) had a history of dyslipidemia, 48 (42.1%) were under lipid-lowering therapies, and 59 (51.8%) had a history of cardiovascular disease (CVD). Mean levels of low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), and triglyceride were, respectively, 110 ± 40 mg/dL, 60±20 mg/dL, and 120 (80–190) mg/dL. Unachieved LDL-C levels were found in 77 (67.5%) patients of whom 53 had history of CVD. Overall, 90 (78.9%) had protective HDL-C and 31 (27.2%) had hypertriglyceridemia. In the multivariate analysis, independent risk factors for unachieved LDL-C levels were older age and history of CVD; triple aPL negativity, defined as complete disappearance of aPL over time in APS patients who were previously positive in accordance to international criteria, was an independent protective factor for unachieved LDL-C.
Conclusion
Our finding suggested that dyslipidemia is frequent in APS patients and mainly insufficiently treated, especially in patients with history of CVD, who are at highest risk of future CV events.
(1) Background: Systemic sclerosis (SSc) is a heterogeneous connective tissue disease with a high mortality and morbidity rate. Identification of biomarkers that can predict the evolution of SSc is a ...key factor in the management of patients. The aim of this study was to assess the association of routine laboratory parameters, widely used in practice and easily available, with the severity and progression of SSc. (2) Methods: In this retrospective monocentric cohort study, 372 SSc patients were included. We gathered clinical and laboratory data including routine laboratory parameters: C-reactive-protein (CRP), erythrocyte sedimentation rate (ESR), complete blood count, serum sodium and potassium levels, creatinin, urea, ferritin, albumin, uric acid, N-terminal pro-brain natriuretic peptide (NTproBNP), serum protein electrophoresis, and liver enzymes. Associations between these routine laboratory parameters and clinical presentation and outcome were assessed. (3) Results: Median (interquartile range) age was 59.0 (50.0; 68.0) years. White blood cell, monocyte, and neutrophil absolute counts were significantly higher in patients with diffuse cutaneous SSc and with interstitial lung disease (ILD) (p < 0.001). CRP was significantly higher in patients with ILD (p < 0.001). Hemoglobin and ferritin were significantly lower in patients with pulmonary hypertension (PH) including pulmonary arterial hypertension and ILD associated PH (p = 0.016 and 0.046, respectively). Uric acid and NT pro BNP were significantly higher in patients with PH (<0.001). Monocyte count was associated with ILD progression over time. (4) Conclusions: Overall, our study highlights the association of routine laboratory parameters used in current practice with the severity and progression of SSc.
To determine whether the severity of salivary-gland involvement, assessed using salivary gland ultrasonography SGUS, histological focus score, or the unstimulated whole salivary flow UWSF, was ...associated with the response to rituximab in patients with primary Sjögren's syndrome pSS.
Among the 120 patients with pSS enrolled in the randomised TEARS trial of rituximab versus placebo, 35 underwent either centralised minor salivary-gland biopsy or SGUS at inclusion. The echostructure of each parotid and submandibular gland was graded on a scale of 0 to 4. Histologic minor salivary gland involvement was assessed by the focus score. Among rituximab-treated patients with available data (n = 14), half met the Sjögren's Syndrome Responder Index SSRI-30 definition of a response at week 24.
The SGUS score correlated positively to the focus score r = 0.61 and negatively to the UWSF r = -0.68. The focus score was not correlated to the UWSF. The median total SGUS grade at inclusion was 9 6-11 in responders versus 16 11-16 in non-responders p = 0.04. The proportion of SSRI-30 responders was 0% among patients with SGUS grade 4 and 88% among those with SGUS grade ≤3. Low baseline SGUS scores were associated with sicca-related outcomes improvement, but not with fatigue or biological improvement. Median baseline focus score was 0.3 0.0-1.3 in the responders versus 4.0 2.7-5.3 in the non-responders p = 0.02. Baseline UWSF was not associated with the response rate.
In patients with pSS, the highest SGUS grade or a high histological focus score is associated with absence of a response to a single rituximab course after 6 months. Further studies, including more patients and different treatment strategies, are required to confirm the clinical utility of these potential biomarkers in pSS.
Objectives
The objective of this study is to better characterize the features and outcomes of a large population of patients with mixed connective tissue disease (MCTD).
Methods
We performed an ...observational retrospective multicenter cohort study in France. Patients who fulfilled at least one diagnostic criterion set for MCTD and none of the criteria for other differentiated CTD (dCTD) were included.
Results
Three hundred and thirty patients (88% females, median interquartile range age of 35 years 26–45) were included. The diagnostic criteria of Sharp or Kasukawa were met by 97.3% and 93.3% of patients, respectively. None met other classification criteria without fulfilling Sharp or Kasukawa criteria. After a median follow‐up of 8 (3–14) years, 149 (45.2%) patients achieved remission, 92 (27.9%) had interstitial lung disease, 25 (7.6%) had pulmonary hypertension, and 18 (5.6%) died. Eighty‐five (25.8%) patients progressed to a dCTD, mainly systemic sclerosis (15.8%) or systemic lupus erythematosus (10.6%). Median duration between diagnosis and progression to a dCTD was 5 (2–11) years. The presence at MCTD diagnosis of an abnormal pattern on nailfold capillaroscopy (odds ratio OR = 2.44, 95% confidence interval 95%CI 1.11–5.58) and parotid swelling (OR = 3.86, 95%CI 1.31–11.4) were statistically associated with progression to a dCTD. Patients who did not progress to a dCTD were more likely to achieve remission at the last follow‐up (51.8% vs. 25.9%).
Conclusions
This study shows that MCTD is a distinct entity that can be classified using either Kasukawa or Sharp criteria, and that only 25.8% of patients progress to a dCTD during follow‐up.
Objectives To assess the prevalence and characteristics of severe pyogenic, nonpyogenic, and opportunistic infections in polymyositis and dermatomyositis (PM/DM) patients and to evaluate the ...predictive values for infections on clinical presentation and biochemical findings of PM/DM to detect patients at risk for such infections. Methods The medical records of 279 consecutive PM/DM patients in 3 medical centers were reviewed. Results One hundred four severe infections occurred in our patients (37.3%), ie, pyogenic ( n = 71) and nonpyogenic/opportunistic infections ( n = 33). Pyogenic infections were mainly due to aspiration pneumonia ( n = 46) and calcinosis cutis infection. Thirty-three PM/DM patients developed nonpyogenic/opportunistic infections that were due to the following: Candida albicans , Pneumocystis jiroveci , Aspergillus fumigatus , Geotrichum capitatum , Mycobacterium ( avium-intracellulare complex, xenopi , marinum , peregrinum , tuberculosis ), Helicobacter heilmanii , cytomegalovirus, herpes simplex and zoster virus, hepatitis B and C, JC virus, Leishmania major , Strongyloides stercoralis . Esophageal dysfunction, ventilatory insufficiency, malignancy, and lymphopenia were significantly more frequent in the group of PM/DM patients with infections. Conclusion Our study underscores the high frequency of infections in PM/DM, resulting in an increased mortality rate. Our results suggest that prophylaxis against pyogenic infections should be routinely recommended for patients with PM/DM, including regular physical examination of lungs to depict aspiration pneumonia as well as risk factors of aspiration pneumonia. Finally, because a great variety of micro-organisms may be responsible for opportunistic infections, it seems difficult to initiate primary prophylaxis in PM/DM patients exhibiting risk factors for opportunistic infections.
Systemic sclerosis (SSc) is a chronic connective-tissue disease responsible for reduced life expectancy, disability and a decreased quality of life. In order to optimize patients-physicians ...relationship and care strategy we aimed to survey views of patients on SSc and its management to reveal potential hurdles and improve health care strategies.
A qualitative study combined semi-structured interviews, focus groups, and a direct observation of an information session was performed between November 2008 and January 2009.
Twenty-five patients with SSc were included. They encounter difficulties to have a clear representation of their disease. Physical, psychological, and social repercussions of SSc may lead to a psychological distress and different coping strategies, which widely differ among interviewed patients. Patients' views on their therapeutic journey and the management of their disease highlighted strong expectations about patient-physician relationship. These expectations were numerous, complex and sometimes ambivalent. Patients expected physicians to be human and attentive but also involved in research in the field and to provide psychological and affective support to help them to accept the uncertainty of disease evolution and lack of curative treatment. They also expected more individualized management, improvements in diagnosis and follow-up organization, more efforts in education and information, comprehensive behaviors and support from working colleagues and relatives, and increased funding from the health care system.
Our results suggest that SSc management could be optimized, particularly with more attention to the patient-practitioner relationship. Patient profiles should be more precisely defined in terms of coping strategies and treatment preferences to propose more individualized options.
The goal of this study was to describe the spectrum of clinical signs of mevalonate kinase deficiency (MKD).
This was a retrospective French and Belgian study of patients identified on the basis of ...MKD gene mutations.
Fifty patients from 38 different families were identified, including 1 asymptomatic patient. Symptoms began during the first 6 months of life in 30 patients (60%) and before the age of 5 years in 46 patients (92%). Symptoms consisted of febrile diarrhea and/or rash in 23 of 35 patients (66%). Febrile attacks were mostly associated with lymphadenopathy (71%), diarrhea (69%), joint pain (67%), skin lesions (67%), abdominal pain (63%), and splenomegaly (63%). In addition to febrile attacks, 27 patients presented with inflammatory bowel disease, erosive polyarthritis, Sjögren syndrome, and other chronic neurologic, renal, pulmonary, endocrine, cutaneous, hematologic, or ocular symptoms. Recurrent and/or severe infections were observed in 13 patients, hypogammaglobulinemia in 3 patients, and renal angiomyolipoma in 3 patients. Twenty-nine genomic mutations were identified; the p.Val377Ile mutation was the most frequently found (29 of 38 families). Three patients died of causes related to MKD. The disease remained highly active in 17 of the 31 surviving symptomatic patients followed up for >5 years, whereas disease activity decreased over time in the other 14 patients. Interleukin 1 antagonists were the most effective biological agents tested, leading to complete or partial remission in 9 of 11 patients.
MKD is not only an autoinflammatory syndrome but also a multisystemic inflammatory disorder, a possible immunodeficiency disorder, and a condition that predisposes patients to the development of renal angiomyolipoma.
Background:
Interstitial lung disease (ILD) is the leading cause of mortality in systemic sclerosis (SSc).
Objective:
We performed an overview of the diagnostic approaches, follow-up and treatment ...strategies used in France for the management of SSc-associated ILD (SSc-ILD).
Design: Structured nationwide online survey.Methods:
A structured nationwide online survey was submitted to participants via the French Medical Societies for Internal Medicine and Pneumology, and research groups on SSc-ILD from May 2018 to June 2020. The 79 multiple-choice and 9 open-ended questions covered the screening of ILD at baseline, monitoring of patients with established SSc-ILD and its management. Fourteen optional vignettes exploring different clinical phenotypes of SSc-ILD were submitted to evaluate therapeutic decisions.
Results:
All of the 93 participants screened SSc patients for ILD at baseline with 83 (89%) participants relying on a systematic chest computed tomography (CT) scan. Pulmonary function tests (PFT) were prescribed by 87 (94%) participants at baseline and during follow-up. Treatment was started based on abnormal PFT (95%), chest CT scan characteristics (89%), worsening dyspnoea (72%) and drop in SpO2 during 6-min walk tests (66%). First-line therapy was cyclophosphamide (CYC) (89%), mycophenolate mofetil (MMF) (83%) and prednisone (73%). Rituximab as second-line immunosuppressive therapy (41%) was preferred to antifibrotic agents (18%), and a median daily prednisone dose of 10 mg (interquartile range, 10–15) was prescribed by 73% participants. Extensive SSc-ILD with worsening PFT (95%), regardless of diffusing capacity for carbon monoxide values and skin extension, were more likely to be treated, and CYC was favoured over MMF (p < 0.01). Extensive SSc-ILD with disease duration of less than 5 years was also a criterium for treatment initiation.
Conclusion:
This overview of practices in diagnosis, follow-up and treatment of SSc-ILD in France describes real-life management of patients. It highlights heterogeneity in this management and gaps in current strategies that should be addressed to improve and harmonize clinical practices in SSc-ILD.
To describe the natural history of ischemic digital ulcers (DU) in systemic sclerosis (SSc).
This single-center, retrospective, longitudinal study identified patients by demographic data, SSc history ...and type, Rodnan score, tobacco use, presence of autoantibodies, ongoing treatment, and DU history.
One hundred three patients were enrolled, 46 with DU history and 57 without; 2 with DU were excluded. The mean duration of followup from the first non-Raynaud SSc symptoms was 12.3 +/- 6.3 years in patients with DU history and 12.1 +/- 7.0 years in patients without. In 43% of cases, first DU occurred within 1 year following first non-Raynaud SSc symptoms, and within 5 years in 73% of cases. In a multivariate analysis, younger patients at occurrence of first non-Raynaud SSc symptoms (HR = 0.77 per each 5 years older, 95% CI 0.66-0.90) with higher Rodnan scores (HR = 1.21 per 5 points, 95% CI 1.05-1.47) experienced earlier DU occurrences, which were delayed by vasodilator therapy (HR = 0.17, 95% CI 0.09-0.32). Patients with shorter durations between first and second DU episodes, particularly with a second episode within 2 years of the first, experienced a higher yearly incidence of DU episodes (0.85 +/- 0.57 and 0.48 +/- 0.26, respectively, if less or more than 2 yrs; p = 0.04). Throughout the duration of followup, the incidence of finger amputation was 1.2% per patient-year in patients with DU history.
Patients who are young at first sign of SSc, with high Rodnan scores and without vasodilator therapy, are at high risk of developing DU. Development of DU typically occurred within 5 years of the first non-Raynaud clinical symptom of SSc in the majority of patients.
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