Sicca syndrome represents a heterogeneous group of conditions, such as Sjögren syndrome, causing xerophthalmiaand xerostomia. This study characterizes in depth patients with Sicca syndrome and ...evaluates salivary gland ultrasound (SGUS).
Principal component analysis and hierarchical clustering of clinical parameters, such as ESSPRI, ESSDAI and laboratory data, were performed on all referrals for assessment of Sicca symptoms between October 2018 and March 2021. SGUS and labial gland biopsies were compared across groups.
A total of 583 patients were assessed. Objective dryness was confirmed in 73% of the patients. Cluster analysis identified 3 groups with
analysis confirming distinct phenotypes:
(283/583; 49%) with more frequent symptoms but limited objective dryness;
(DAF
, 206/584; 35%), and
(DAF
, 94/584;16%). DAF
patients had highest autoantibody titers (anti-SSA(Ro) 240 vs. 3.6 vs. 3.8;
< 0.001), most extra-glandular manifestations (
< 0.001), and highest median SGUS Score (DAF
: 8 IQR 4-10 vs. SG: 2 1-4 vs. DAF
4 2-5;
< 0.001). No tangible correlation with primary Sjögren syndrome criteria was observed.
SGUS score correlated with a subset of patients with Sjögren syndrome, identified in the DAF
cluster. This study highlights heterogeneity within sicca and, indeed, Sjögren syndrome, highlighting the need for further studies.
Primary Sjögren's syndrome (pSS) is associated with an increased prevalence of traditional risk factors and cardiovascular diseases (CVDs). The study aimed to identify specific risk factors for CVD ...in pSS patients.
PSS patients with and without CVD were compared. All patients fulfilled the EULAR/ACR classification criteria. Patients with CVD presented at least one of the following manifestations: myocardial infarction, transient ischemic attacks, ischemic or hemorrhagic stroke, peripheral artery disease, coronary artery disease, and carotid plaques. Data were collected by a standardized protocol and review of medical records.
61/312 (19.6%) pSS patients presented with CVD. Traditional risk factors such as hypertension, hypercholesterinemia and diabetes (
< 0.05), pSS manifestations, in particular vasculitis (
= 0.033) and Raynaud's phenomenon (
= 0.018) were associated with CVD. Among patients with ischemic events (28/312, 9%), particularly cerebrovascular disease (
= 12/28, 42.9%), correlations with increased EULAR Sjögren's Syndrome Disease Activity Index (ESSDAI) (
= 0.039) and EULAR Sjögren's Syndrome Patient Reported Index (ESSPRI) (
= 0.048) were observed. Age at first cerebrovascular event was 55.2 48.9-69.6 years. Multivariate analysis confirmed hypertension odds ratio (OR) 3.7, 95% confidence interval (CI) 1.87-7.18,
< 0.001, hypercholesterinemia (OR 3.1, 95% CI 1.63-5.72,
< 0.001), male gender (OR 0.4, 95% CI 0.17-0.78,
= 0.009), Raynaud's phenomenon (OR 2.5, 95% CI 1.28-4.82,
= 0.007), and CNS involvement (OR 2.7, 95% CI 1.00-7.15,
= 0.048) as independent CVD predictors.
Raynaud's phenomen as well as vasculitis and high ESSDAI have shown a significant association to CVD. PSS patients with cerebrovascular events were younger than expected. Knowledge about risk factors may help clinicians to identify pSS patients at risk for CVD. After diagnosis of pSS, patients should be screened for risk factors such as hypertension and receive appropriate therapy to prevent or at least reduce sequelae such as infarction. However, further investigations are necessary in order to achieve a reliable risk stratification for these patients.
ObjectivesCardiovascular comorbidities are common in patients with autoimmune diseases. This study investigates the extent of subclinical atherosclerosis in patients with primary Sjögren’s syndrome ...(pSS). Correlations with clinical factors such as organ involvement (OI) or disease activity were analysed and oxLDL antibodies (oxLDL ab) were measured as potential biomarkers of vascular damage.MethodsPatients with pSS were consecutively included from the rheumatology outpatient clinic. Age- and sex-matched controls were recruited (2:1 ratio). Data collection was performed by a standardised questionnaire and Doppler ultrasound to evaluate the plaque extent and carotid intima-media thickness (cIMT). Propensity score matching included all cardiovascular risk (CVR) factors and corresponding laboratory markers.ResultsData were available for 299 participants (199 pSS/100 controls), aged 59.4 years (50.6–65.0), 19.1% male. After matching, the pSS cohort had greater cIMT (p<0.001) and plaque extent (OR=1.82; 95% CI 1.14 to 2.95). Subgroup analyses of patients with pSS revealed that OI was associated with increased cIMT (p=0.025) and increased plaque occurrence compared with patients without OI (OR=1.74; 95% CI 1.02 to 3.01). OxLDL ab tended to be lower in patients with plaque (p=0.052). Correlations of higher Oxidized Low Density Lipoprotein (oxLDL) ab with EULAR Sjögren’s Syndrome Disease Activity Index (p<0.001) and anti–Sjögren's-syndrome-related antigen A autoantibodies (SSA/Ro antibodies) (p=0.026) were observed.ConclusionsSubclinical atherosclerosis occurs earlier and more severely in patients with pSS. The difference in cIMT between pSS and controls seems mainly driven by patients with OI, suggesting that this subgroup is particularly at risk. OxLDL ab might protect against atherosclerotic progression in patients with pSS. CVR stratification and preventive medications such as Hydroxymethylglutaryl-CoA (HMG-CoA) reductase inhibitors should be discussed and further longitudinal studies are needed.
Objective
Neurological manifestations of Sjögren’s syndrome can be severe but also treatment-responsive. We aimed to systematically evaluate neurological manifestations of primary Sjögren’s syndrome ...and find clinical features allowing sufficient identification of affected patients (pSSN) among those with Sjögren’s syndrome without neurological involvement (pSS).
Methods
Para-/clinical features of patients with primary Sjögren’s syndrome (2016 ACR/EULAR classification criteria) were compared between pSSN and pSS. At our university-based center, patients with suggestive neurological symptoms undergo screening for Sjögren’s syndrome, and newly diagnosed pSS patients are thoroughly evaluated for neurologic involvement. pSSN disease activity was rated by the Neurological Involvement of Sjögren’s Syndrome Disease Activity Score (NISSDAI).
Results
512 patients treated for pSS/pSSN at our site between 04/2018 and 07/2022 were included (238 pSSN patients 46% vs. 274 pSS patients 54%, cross-sectional design). Independent predictors of neurological involvement in Sjögren’s syndrome were male sex
p
< 0.001, older age at disease onset
p
< 0.0001, hospitalization at first presentation
p
< 0.001, lower IgG levels
p
= 0.04 and higher eosinophil values (treatment-naïve)
p
= 0.02. Univariate regression additionally showed older age at diagnosis
p
< 0.001, lower prevalence of rheumatoid factor
p
= 0.001, SSA(Ro)/SSB(La) antibodies
p
= 0.03;
p
< 0.001, higher white blood cell count
p
= 0.02 and CK levels
p
= 0.02 (treatment-naïve) in pSSN.
Interpretation
Patients with pSSN had different clinical characteristics than patients with pSS and represented a large proportion of the cohort. Our data suggest that neurological involvement in Sjögren’s syndrome has been underestimated. Intensified screening for neurologic involvement should be included in the diagnostic algorithm for Sjögren’s syndrome, especially in males of older age and with severe disease course requiring hospitalization.
Zusammenfassung
Hintergrund
In der ambulanten Versorgung wurde Telemedizin im Lockdown von März bis Mai 2020 eingesetzt. Ziel der Studie war es, Patienten aus einer Praxis und der Hochschulambulanz ...bezüglich Patientenzufriedenheit mit Telemedizin, COVID-19-Sorgen und Impfverhalten auszuwerten sowie die Gesprächsführung durch eine rheumatologische Fachassistenz (RFA) mit einem Arzt zu vergleichen.
Methoden
Patienten mit rheumatoider Arthritis, Psoriasisarthritis oder Spondyloarthritis ohne Therapieänderung seit der letzten Vorstellung wurde ein telemedizinischer Ersatztermin im Rahmen dieser Studie bei Terminabsage durch die versorgenden Zentren angeboten. Randomisiert wurden sie von einem Arzt oder einer RFA (RFA nur Universität) telemedizinisch versorgt. Die Anamnese erfolgte telefonisch standardisiert mittels Fragebogen. Die Krankheitsaktivität wurde mittels modifizierten Clinical Disease Activity Score (CDAI) und BASDAI festgestellt. Im Anschluss erhielten die Patienten einen pseudonymisierten Evaluationsbogen.
Ergebnisse
Von 112/116 (96 %) eingeschlossenen Patienten schickten 88/112 (79 %) den Fragebogen zurück. RFAs führten 19/112 (17 %) Telefonate. Die Therapie wurde in 19/112 (17 %) geändert. Die meisten Sorgen bezüglich COVID-19 hatten Patienten mit der höchsten Krankheitsaktivität (
p
= 0,031), den meisten schmerzhaften Gelenken (
p
= 0,001) sowie den meisten Schmerzen (VAS Score ≥7) (
p
= 0,009). Diese Patienten hätten auch selbst ihren Termin abgesagt (
p
= 0,015). Die Patientenzufriedenheit mit der Gesprächsführung war gut (Mittelwert 4,3/5,0 modifizierter FAPI), unabhängig von der Institution, der Gesprächsdauer oder dem Gesprächspartner. Patienten mit hoher Schmerzintensität waren am unzufriedensten (
p
= 0,036); 42/100 (38,2 %) Patienten waren gegen Pneumokokken und 59/100 (53,6 %) gegen Influenza geimpft.
Zusammenfassung
Für ausgewählte Patienten ist die telemedizinische Versorgung im Rahmen eines Telefongespräches gut geeignet. Hinsichtlich der Patientenzufriedenheit ist die Delegation einer telefonischen Visite an eine RFA möglich. Bezüglich des Impfverhaltens besteht Verbesserungsbedarf.
Telemedicine was implemented in outpatient care during the lockdown between March and May 2020. The aim of the study was to assess patients from a private practice and the university outpatient ...department with respect to patient satisfaction with telemedicine, COVID-19 worries and vaccination behavior and to compare the teleconsultation by a medical assistant for rheumatology (RFA) and a physician.
Patients with rheumatoid arthritis, psoriatric arthropathy or spondylarthritis without treatment modifications since the previous presentation were offered a telemedical replacement appointment within the framework of this study in the case of appointment cancellation by the treating center. Participants were randomized to a telemedicine appointment by a physician or an RFA (RFA university only). The patient history was carried out by telephone and standardized using a questionnaire. The disease activity was determined using the modified clinical disease activity score (CDAI) and the BASDAI. Subsequently, all patients received a pseudonymized evaluation questionnaire.
In total 112/116 (96%) patients participated. Of these 88/112 (79%) returned the questionnaire. The RFAs conducted 19/112 (17%) of the telephone calls. The treatment was modified in 19/112 (17%) patients. Concerns about contracting COVID-19 correlated with high disease activity (p = 0.031) including the presence of painful joints (p = 0.001) and high pain levels (VAS ≥7, p = 0.009). These patients would have also cancelled their appointment themselves (p = 0.015). Patient satisfaction with the consultation was good (mean 4.3/5.0 modified FAPI) independent of the institution, the duration of the consultation and the consultation partner. Patients with a high pain intensity were the least satisfied (p = 0.036). Only 42/100 (38.2%) of the patients had been vaccinated against pneumococci and 59/100 (53.6%) against influenza.
Telemedical care within the framework of a telephone consultation is well-suited for selected patients. With respect to patient satisfaction the delegation of a telemedical consultation to an RFA is possible. There is a need for improvement with respect to the vaccination behavior.
Pleiotropy, which consists of a single gene or allelic variant affecting multiple unrelated traits, is common across cancers, with evidence for genome‐wide significant loci shared across cancer and ...noncancer traits. This feature is particularly relevant in multiple myeloma (MM) because several susceptibility loci that have been identified to date are pleiotropic. Therefore, the aim of this study was to identify novel pleiotropic variants involved in MM risk using 28 684 independent single nucleotide polymorphisms (SNPs) from GWAS Catalog that reached a significant association (P < 5 × 10−8) with their respective trait. The selected SNPs were analyzed in 2434 MM cases and 3446 controls from the International Lymphoma Epidemiology Consortium (InterLymph). The 10 SNPs showing the strongest associations with MM risk in InterLymph were selected for replication in an independent set of 1955 MM cases and 1549 controls from the International Multiple Myeloma rESEarch (IMMEnSE) consortium and 418 MM cases and 147 282 controls from the FinnGen project. The combined analysis of the three studies identified an association between DNAJB4‐rs34517439‐A and an increased risk of developing MM (OR = 1.22, 95%CI 1.13‐1.32, P = 4.81 × 10−7). rs34517439‐A is associated with a modified expression of the FUBP1 gene, which encodes a multifunctional DNA and RNA‐binding protein that it was observed to influence the regulation of various genes involved in cell cycle regulation, among which various oncogenes and oncosuppressors. In conclusion, with a pleiotropic scan approach we identified DNAJB4‐rs34517439 as a potentially novel MM risk locus.
What's new?
Genetic variants can have multiple, seemingly unrelated, effects. Often, these so‐called “pleiotropic” variants play a role in cancer. Here, the authors set out to identify new pleiotropic variants involved in multiple myeloma (MM) risk. They analyzed 28,684 independent single nucleotide polymorphisms (SNPs) that had been identified in genome‐wide association studies as having an effect on a human trait. This analysis revealed an association between increased MM risk and a variant called DNAJB4‐rs34517439‐A. That variant has been associated with changes in expression of a DNA‐ and RNA‐binding protein that helps regulate cell cycle genes.
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