Effect of Genetic and Laboratory Findings on Clinical Course of Antisynthetase Syndrome in a Hungarian Cohort

Szabó, Katalin; Bodoki, Levente; Nagy‐Vincze, Melinda; Vincze, Anett; Zilahi, Erika; Szodoray, Péter; Dankó, Katalin; Griger, Zoltán

doi:10.1155/2018/6416378

“…To the best of our knowledge, this is the largest study from India of anti–Jo-1 antisynthetase syndrome. Age was lower (40 years) in our study, which is similar to Hungarian cohort, 17 but lower than that reported (fifth decade) in larger studies. Similarly, female predominance was more marked (4:1) compared with others (1.5 to 3:1) except the study from Hungary.…”

Section: Discussionsupporting

confidence: 74%

Anti–Jo-1 Syndrome Often Misdiagnosed as Rheumatoid Arthritis (for Many Years)

Kumar

¹

,

Jha

²

,

Dhooria

³

et al. 2019

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Background: Antisynthetase syndrome is characterized by a triad of myositis, arthritis, and interstitial lung disease. Anti-Jo-1 is the most common associated autoantibody. This study planned to look at the presentation of anti-Jo-1 antisynthetase syndrome in a single Indian center. Methods and Materials:This was a medical records review singlecenter study that included patients with anti-Jo-1 antisynthetase syndrome over 10 years.Results: This study included 27 patients with anti-Jo-1 antisynthetase syndrome, with mean age of 40 ± 9.2 years and female preponderance (female-to-male ratio, 4:1). At presentation, the characteristic triad was present in only 4 patients. A majority presented with the incomplete form, with 2 clinical features (of triad) in 11 and single feature (of triad) being present in 12 patients at initial presentation. Seven presented only with polyarthritis, out of which 6 had been earlier diagnosed as rheumatoid arthritis. Time gap from diagnosis of "rheumatoid arthritis" to antisynthetase syndrome ranged from 3 to 20 years. In patients who had only arthritis in the beginning, there was a significantly longer delay to diagnosis of antisynthetase syndrome, higher frequency of rheumatoid factor, and lower frequency of anti-Ro-52. Overall, outcome was good, with Eastern Cooperative Oncology Group class 1 or 2 in most except 2 patients.Conclusions: Anti-Jo-1 antisynthetase syndrome commonly presented as incomplete (not a triad) and often only with arthritis. These patients are diagnosed and treated as rheumatoid arthritis for many years, before a diagnosis of antisynthetase syndrome is made. Being aware of this presentation may help in earlier diagnosis by actively searching for subtle clues.

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“…Comparison of these results with historical data of our 49 anti-Jo-1-positive patients [ 22 ] showed similar age at diagnosis, male/female ratio, average CK, or LDH levels at diagnosis, but ESR levels at diagnosis was significantly higher in overlap group (40.26 vs. 24.24 mm/h; p < 0.01). Twenty-eight binary variables (symptoms and laboratory parameters) were compared between the 2 groups with Fisher's exact test, applying Hochberg's correction for multiple comparisons.…”

Section: Resultssupporting

confidence: 64%

“…Similar results were seen with the frequency of DQA1∗05 : 01 (Fisher's exact test: p < 0.0001, OR: 17.4; 95% CI: 3.6 to 83.5). We then compared this data with genetic results of our anti-Jo-1 ASSD patients [ 22 ], but found no significant difference between the frequency of neither the DQA1∗05 : 01 nor the DRB1∗03 genotype in the overlap and anti-Jo-1 group (Fisher's exact test: p > 0.1; Figure 2 ). The presence of HLA − DRB1∗03 − HLA − DQA1∗05 : 01 haplotype in overlap patients with different parameters of the disease phenotype (organ involvement, laboratory parameters, and serological status) were also investigated; however, significant correlations could not be detected (data not shown).…”

Section: Resultsmentioning

confidence: 99%

Clinical, Serological, and Genetic Characteristics of a Hungarian Myositis-Scleroderma Overlap Cohort

Szabó

¹

,

Bodoki

²

,

Nagy‐Vincze

³

et al. 2022

BioMed Research International

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Overlap myositis is a distinct subgroup of idiopathic inflammatory myositis (IIM) with various clinical phenotypes. The aim of this study was to determine the clinical, serological, and genetic features of systemic sclerosis (SSc)-IIM overlap patients. It was a retrospective study using clinical database of 39 patients, fulfilling both the criteria of SSc and IIM. 56.4% of the patients had limited cutaneous, 43.6% had diffuse cutaneous SSc, whereas 7.7% of the patients had dermatomyositis and 92.3% polymyositis. The two diseases occurred simultaneously in 58.97%, while 10.26% in myositis and 30.77% in scleroderma were initially diagnosed. The frequencies of organ involvement were interstitial lung disease 71.8%, dysphagia 66.7%, cardiac involvement 41%, pulmonary arterial hypertension (PAH) 30.8%, and renal involvement 12.8%, respectively. The presence of human leukocyte antigen HLA − DRB 1 ∗ 03 and DQA 1 ∗ 051 ∗ 01 alleles were significantly higher in the overlap patients than in healthy controls (82.35% vs. 27.54%; p < 0.0001 and 88.24% vs. 30.16; p < 0.0001 ). Certain clinical parameters, such as fever at diagnosis (41.67% vs. 7.41%, p = 0.0046 ), cardiac involvement (83.33% vs. 22.22%, p = 0.0008 ), subcutaneous calcinosis (41.66 vs. 11.11, p = 0.01146 ), and claw hand deformity (25% vs. 11.11%, p = 0.00016 ) were significantly associated with the presence of PAH. Upon comparison, the overlap patients and anti-Jo-1 positive antisynthetase patients showed similarities in terms of genetic results and major clinical features; however, SSc-IIM overlap patients could be distinguished with higher erythrocyte sedimentation rate (ESR) level, more frequent presence of Raynaud’s phenomenon ( p < 0.0001 ; OR: 20.00), dysphagia ( p < 0.0001 ; OR: 15.63), and infrequent livedo reticularis ( p < 0.01 ; OR: 0.11). SSc-IIM overlap myositis is a unique group within IIM-s possessing characteristic clinical features.

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“… 1–4 Improving treatment for MM thus remains a top healthcare priority, and in recent years, targeted treatments have substantially improved response and survival in patients diagnosed with MM. 5 , 6 Despite these advances in efficacy, treatment regimens have become increasingly complex and time-consuming, 5 and healthcare providers (HCPs) are often overburdened and may struggle to keep up with patient demand. 7 Complex treatment schedules requiring multiple hospital visits, lengthy infusion procedures, and potential side effects from infusions present a major burden to patients’ health-related quality of life (HRQoL) and healthcare systems.…”

Section: Introductionmentioning

confidence: 99%

Results of a Time and Motion Survey Regarding Subcutaneous versus Intravenous Administration of Daratumumab in Patients with Relapsed or Refractory Multiple Myeloma

Slavcev

¹

,

Spinelli

²

,

Absalon³

et al. 2021

CEOR

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Purpose Daratumumab (DARA) is a humanized anti-CD38 monoclonal antibody and approved as monotherapy or in combination with standard of care regimens for the treatment of multiple myeloma (MM). DARA intravenous (IV) administration is time-consuming; availability of DARA subcutaneous (SC) is expected to reduce this burden. A time and motion survey was undertaken to elicit healthcare providers’ (HCPs’) understanding of the workflow and time estimates for administration of DARA IV and SC (beyond treatment time) in patients with relapsed/refractory MM. Patients and Methods This web-based, prospective survey collected data from HCPs at sites that actively enrolled patients in the phase 3 COLUMBA trial, a multicenter, noninferiority study of DARA IV versus DARA SC. Data collection included time actively spent on pre-specified drug preparation and drug administration/patient care activities; active HCP and chair time were extrapolated for first and subsequent treatments. Results Compared with DARA IV, DARA SC reduced median total active HCP time by 63.8% (from 265.9 to 96.3 minutes) and 49.5% (from 179.2 to 90.4 minutes) for first and subsequent treatments, respectively. When extrapolated to the anticipated number of treatments per year (23 in Year 1 and 13 in Year 2, per label), estimated active HCP time per patient was reduced by 50% in Years 1 (from 70.1 to 34.8 hours) and 2 (from 38.8 to 19.6 hours) for DARA SC versus DARA IV. Estimated chair time for DARA SC was decreased by 97% versus DARA IV for first (from 456.9 to 13.3 minutes) and subsequent treatments (from 238.0 to 8.1 minutes). Conclusion These results suggest that DARA SC is associated with less active HCP involvement during drug preparation and drug administration/patient care compared with DARA IV, potentially reducing burdens on patients and caregivers and creating efficiencies for HCPs and healthcare facilities, allowing more patients access to care.

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Effect of Genetic and Laboratory Findings on Clinical Course of Antisynthetase Syndrome in a Hungarian Cohort

Cited by 11 publications

References 46 publications

Anti–Jo-1 Syndrome Often Misdiagnosed as Rheumatoid Arthritis (for Many Years)

Anti–Jo-1 Syndrome Often Misdiagnosed as Rheumatoid Arthritis (for Many Years)

Clinical, Serological, and Genetic Characteristics of a Hungarian Myositis-Scleroderma Overlap Cohort

Results of a Time and Motion Survey Regarding Subcutaneous versus Intravenous Administration of Daratumumab in Patients with Relapsed or Refractory Multiple Myeloma

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