Showing papers on "Undifferentiated connective tissue disease published in 2022"

Antigen Reactivity and Clinical Significance of Autoantibodies Directed Against the Pyruvate Dehydrogenase Antigen Complex in Patients With Connective Tissue Disease

Abstract: Introduction Antimitochondrial antibodies (AMAs) are the hallmark of primary biliary cholangitis (PBC) but can be identified also in patients with connective tissue disease, namely, systemic sclerosis (SSc). Protein immunoprecipitation (IP) and IP-Western blot (WB) can be used to confirm AMA positivity directed at the pyruvate dehydrogenase complex (PDC) subunits E1α, E1β, E2/E3, and E3BP in patients showing a cytoplasmic reticular pattern at indirect immunofluorescence when performed in a screening setting before the onset of overt cholestasis in rheumatic patients. Patients and Methods We studied sera from 285 patients affected by connective tissue disease [SSc, n = 144; dermato/polymyositis (DM/PM), n = 56; and undifferentiated connective tissue disease (UCTD), n = 85] by indirect immunofluorescence (IIF), protein-IP, and IP-WB to identify specific PDC subunits recognized by AMA. Results Twenty percent (57/285) of sera from patients with connective tissue disease had a cytoplasmic reticular pattern at IIF, and in 77% (44/57, including 20 SSc, 12 PM/DM, and 12 UCTD) of these, we detected different titers of autoantibodies against the PDC subunits, specifically against PDC-E2. Among these sera, 4 (9%) tested positive for anti-E1α, 15 (34%) for anti-E1β, and 16 (36%) for anti-E3BP. Four of the 20 AMA-positive SSc cases (20%) had been already diagnosed with PBC, and all were positive for autoantibodies against the subunits PDC-E2, E3, and E3BP. Conclusions Using IIF and IP, we confirm that autoantibodies against the PDC components are detected in rheumatic patients with PBC or without liver dysfunction. In view of the strong predictive value of AMA for PBC, a strict follow-up of these latter patients is warranted for an early diagnosis of the disease.

Undifferentiated Connective Tissue Disease in Pregnancy: A Topic Yet to be Explored

Abstract: Undifferentiated connective tissue disease (UCTD) is characterized by signs and symptoms suggestive of a connective tissue disease (CTD), but not fulfilling criteria for a specific CTD. Although UCTD is probably the most common rheumatic disease diagnosed in pregnant women, data about disease course during pregnancy and perinatal outcomes are very limited. Compared to other CTDs, UCTD seems to have milder clinical manifestations in pregnancy. Its natural history is related to disease activity at conception. In fact, if the disease is in a state of remission or minimal activity at conception, pregnancy outcomes are generally good. On the contrary, patients who become pregnant in a moment of high disease activity and/or who have multiple antibodies positivity show an increased risk of disease flares, evolution to a definite CTD and obstetric complications, such as fetal growth restriction, preeclampsia and preterm birth. Therefore, a preconception assessment is essential in women with UCTD to evaluate maternal and fetal risks, to initiate interventions to optimize disease activity, and to adjust medications to those that are least harmful to the fetus. The aim of the present study was to review the available literature about pregnancy course, maternal and fetal outcomes and therapeutic approaches of pregnant women with UCTD.

Pregnancy Outcomes in Undifferentiated Connective Tissue Disease Compared to Systemic Lupus Erythematosus: A Single Academic Center's Experience

Abstract: Objective Systemic lupus erythematosus (SLE) patients have more pregnancy complications than healthy patients. Data regarding pregnancy outcomes in women with undifferentiated connective tissue disease (UCTD) are more limited, and existing studies are concentrated in Italy and predominantly in patients with a new diagnosis. We compared pregnancy outcomes for UCTD and SLE patients with established disease. Methods Between 2008 and 2017, patients with UCTD and SLE at an academic medical center were recruited to a prospective pregnancy registry. UCTD was defined as a positive autoantibody plus connective tissue disease symptoms, not meeting criteria for another rheumatic diagnosis. SLE was defined by ACR or SLICC classification criteria or by physician diagnosis. Data were collected throughout pregnancy and postpartum. Comparator groups included UCTD, low activity SLE, and high activity SLE. Results A total of 150 SLE and 51 UCTD pregnancies were analyzed. Disease activity was low in most patients, though more patients with SLE had severe activity during pregnancy (12% vs. 2%; p=0.05). The frequencies of prematurity and preeclampsia were significantly lower in UCTD than in high activity SLE patients (preterm: 17% vs. 45%, p=0.004 and preeclampsia: 6% vs. 34%, p=0.0008), though similar to low activity SLE patients. More SGA infants were born to SLE than UCTD patients (33% vs. 7%; p=0.0005), regardless of disease activity level. Conclusion Pregnancies in women with UCTD managed by a rheumatologist have a high rate of pregnancy success and fewer risks than those in women with active SLE.

Disease evolution in a long-term follow-up of 104 undifferentiated connective tissue disease patients

Abstract: To investigate the rate of disease evolution in a cohort of patients with undifferentiated connective tissue disease (UCTD) and to determine clinical and immunological features more frequently associated with disease progression.This retrospective single-centre long-term follow-up cohort study included patients with UCTD diagnosis, ANA positive, with a follow-up of at least 2 years.A total of 100 UCTD patients were recruited. During the follow-up (6.2±2.1 years), 44 patients (44%) developed novel clinical and/or laboratory features (rate of development patient/year of 7%), and 21 patients (21%) evolved into a definite connective tissue disease (CTD) after a mean time of 7±5.5 years with a rate of disease evolution (patient/year) of 3%. New clinical manifestations (39 patients) included: joints (36%), haematological (30%), cutaneous (13%), pulmonary (10%) and renal (10%) involvement. New laboratory findings (17 patients (17%)) included: 2 anti-ENA positivity, 3 anti-dsDNA antibodies positivity and 6 low complement levels. At follow-up, 13 patients (61.9%) met the classification criteria for systemic lupus erythematosus, 1 patient (4.8%) for mixed CTD, 5 patients (23.8%) for systemic sclerosis and 2 patients (9.5%) for Sjögren's syndrome. Patients evolving towards a new diagnosis had longer disease duration (15.2±9.7 years vs. 10±5.8 years; respectively, p<0.005), had a higher prevalence of anti-Ro/SSA antibodies (63.2% vs. 28.4%; respectively, p<0.05) and anti-RNP antibodies (21.1% vs. 7.4%; respectively, p<0.05). The statistical difference was also confirmed after the multivariate analysis.Up to 45% of UCTD patients might develop novel clinical and/or laboratory features during the follow-up, leading to evolution into a definite CTD in 1 out 5 cases.

Association of common variable immunodeficiency and rare and complex connective tissue and musculoskeletal diseases. A systematic literature review

Abstract: To perform a systematic literature review (SLR) on the association of common variable immunodeficiency (CVID) and rare and complex connective tissue and musculoskeletal diseases, namely systemic lupus erythematosus (SLE), Sjögren's syndrome (SS), idiopathic inflammatory myopathies (IIM), systemic sclerosis (SSc), relapsing polychondritis, antiphospholipid syndrome, immunoglobulin (Ig) G4-related disease, as well as undifferentiated and mixed connective tissue disease.An SLR on studies and cases about the association of CVID and rare and complex connective tissue and musculoskeletal diseases was performed. Animal studies were excluded.170 publications fulfilled the inclusion criteria. Sjögren's syndrome was the most frequent connective tissue disease in CVID-patients. Most case reports exist on SLE and CVID with SLE mostly preceding the manifestation of CVID. Multiple cases were published reporting the concurrence of CVID and inclusion body myositis and single cases were found on CVID and antisynthetase syndrome, polymyositis, limited SSc and relapsing polychondritis, respectively. There are no cases of CVID and antiphospholipid syndrome, IgG4-related disease, as well as undifferentiated and mixed connective tissue disease.The concurrence of CVID and complex connective tissue and musculoskeletal diseases, especially SS, IIM, SSc and relapsing polychondritis is rare but relevant. The measurements of Ig-levels should be performed before the initiation of immunosuppressive therapy to allow for the differentiation of primary and secondary Ig-deficiency and substitute IG if necessary.

Impact of pregnancy on progression of preclinical autoimmune disorders: a prospective cohort study.

Abstract: OBJECTIVES The objective of this study was to evaluate the role of pregnancies in the progression from the preclinical phase of autoimmune disorder to a definite rheumatic disease. METHODS A cohort study of women enrolled during the first trimester of pregnancy with symptoms and laboratory findings suggestive for autoimmune disorder. A five year follow-up with clinical and laboratory assessment. Multinomial logistic regression was used to compute the risk of progression to definite autoimmune disease correcting for confounders. RESULTS At the end of follow-up, out of 208 subjects, 81(38.9%) were considered negative, 53 (25.5%) had symptoms and abnormalities of autoantibody profile compatible with a non-criteria rheumatic status and 74 (35.6%) had a definite rheumatic disease (43 undifferentiated connective tissue disease, 5 systemic lupus erythematosus, 3 Sjögren's syndrome, 10 antiphospholipid syndrome, and 12 miscellaneous autoimmune disorders). The median time from enrolment to definite diagnosis was 28 months (IQR = 18-42). The rates of progression toward a definite autoimmune disease were 47.1% (48/102) among subjects with one or more subsequent viable pregnancies compared with 24.5% (26/106) of those with no subsequent pregnancies (Adj.OR = 4.9,95%CI = 2.4-10). The occurrence of preeclampsia during the index or subsequent pregnancies was an additional and independent risk factor for progression to a definite autoimmune disease (Adj.Or = 4.3,95%CI = 1.2-14.8). CONCLUSIONS Among women with suspected autoimmune disease during pregnancy, additional viable pregnancies and diagnosis of preeclampsia were independently associated with an increased rate of progression to definite rheumatic disorder. Hormonal modifications associated with pregnancy could worse preclinical rheumatic disorders favouring their progression to a defined autoimmune disease.

Frequency of ANA/DFS70 autoantibodies in Colombian patients with undifferentiated connective tissue disease.

Abstract: The objective was to describe the clinical characteristics and the frequency of the ANA/DFS70 autoantibodies in patients affected by undifferentiated connective tissue disease (UCTD) in a tertiary hospital in Colombia. This descriptive cross-sectional study enrolled patients who fulfilled the classification criteria for UCTD. ANAHEp- 2 test and the modified assay for ANA/DFS70 autoantibodies were performed through the indirect immunofluorescence technique. Erythrocyte sedimentation rate, C-reactive protein, rheumatoid factor, and the antibodies to anti-extractable nuclear antigens, DNA, phospholipids (IgG, IgM, IgA), and cyclic citrullinated peptide were also evaluated. Fifty-three patients were studied; 42/53 (79%) tested positive for ANA and 5/42 (11.9%) for ANA/DFS70 antibodies with a dense fine speckled fluorescent pattern (AC-2) in ANA HEp-2 test that was confirmed by a modified HEp-2-DFS70 assay. Patients had arthralgia (87%, n=47), non-erosive arthritis (66%, n=34), xerostomia (64%, n=34), xerophthalmia (42%, n=22), and Raynaud's phenomenon (17%, n=9). Arthralgia, xerophthalmia, xeroderma, and absence of disease evolution to a specific disease over five years were more frequent in patients with a positive result for the anti-DFS70 antibodies. The ANA/DFS70 autoantibodies were more frequent in patients with UCTD compared to other rheumatic diseases for which they were initially evaluated. More studies are required to support the predictive role of this antibody to the absence of progression to a well-defined connective tissue disease.

Analysis of Ana/Dfs70 Pattern in a Large Cohort of Autoimmune/Autoinflammatory Diseases Compared with First Degree Relatives and Healthy Controls Evaluated from Colombia

Abstract: Background: The presence of Antinuclear antibodies/Dense Fine Speckled 70 (ANA/DFS70) has been proposed as a negative biomarker in the process of exclusion of systemic autoimmune/autoinflammatory rheumatic diseases (SARD). The purpose was to evaluate and characterize ANA/DFS70 patients in a large Colombian population with SARD; rheumatoid arthritis (RA), Psoriasis (PsO), Undifferentiated connective tissue disease (UCTD), first-degree relatives of (FDR), and healthy controls (HC). Methods: ANA determination was performed using indirect immunofluorescence. Samples with positive dense fine granular staining in the nucleoplasm of the interphase cell (AC2) fluorescence were confirmed with CytoBead/ANA and ANA/modified (Knocked out for the PSPI1 gen). Results: 530 mestizo Colombian participants were included. ANA/DFS70 antibody positivity in the whole group was 2.3%, and 0.8% in SARD; no RA patients were positive. ANA/DFS70 positives in UCTD were three women; the average time of evolution of the disease was 9.4 years. The most frequent clinical findings were arthralgias, non-erosive arthritis, and Raynaud’s phenomenon. The PsO positive was a woman with C-reactive protein (CRP) positivity and a negative erythrocyte sedimentation rate (ESR) without any other positive autoantibody or extracutaneous manifestation. FDR and HC positives were 7/8 women. All were negative for other autoantibodies. Conclusions: ANA/DFS70 autoantibodies were present in Colombian patients with SARD at a shallow frequency, they were more prevalent in healthy individuals.

Pos1413 interstitial lung disease(ild) prevalence and trends in systemic lupus erythematosus(sle), rheumatoid arthritis(ra), scleroderma(scl), myositis and mixed connective tissue diseases(mctd) along with comparison of length of hospitalization stay(los), cost and racial predisposition among these

Abstract: ILD includes a category of lung disorders seen in a variety of autoimmune conditions. Prevalence of ILD in autoimmune diseases is variable and poorly studied. ILD is more commonly seen in systemic sclerosis, with 90% of patients showing some interstitial changes on High resolution CT scan. ILD is less common in SLE compared to SCL, with ILD not only a complication but also a poor prognostic factor in these patients. Prior studies have shown increased prevalence of ILD in RA patients over the years. For myositis, ILD can develop during the course of disease or can precede the diagnosis in a small subset of patients.Our study aims to determine the prevalence of ILD in diseases like SLE, Scleroderma, RA, MCTD, and Myositis over the years as well as identify racial predisposition, LOS, Cost of hospitalization in these patientsWe used the Nationwide Inpatient Sample database (years 2003-2018) and extracted patients with ILD using validated International Classification of Disease (ICD) codes. Data from 2015 was excluded from the study in light of the transition of the coding system from version 9 to 10. We identified cases having the diagnosis of SLE, RA, Scleroderma, MCTD or Myositis. Prevalence as well as demographics, cost of hospitalization, and length of stay (LOS) was analyzed and charted. Data was analyzed using statistical analysis system 9.4 software.We identified a total of 149,691 cases of ILD over 15 years. Patients with RA had the highest prevalence of ILD amongst the 5 studied autoimmune diseases. The prevalence rate of RA in ILD patients in 2003 was 3.3% which significantly reduced to 0.93% in 2018, with a peak of 6.42% seen in 2010 (p <0.0001). Prevalence rate of ILD with myositis decreased from 0.72% in 2003 to 0.46% in 2018 (p 0.0001). The prevalence rates of SLE, Scleroderma, and MCTD in cases with ILD significantly increased from 1.38% to 1.63%, 1.38% to 1.76%, and 0.14% to 0.54% from 2003 to 2018 respectively.The average age of ILD cases with SLE was significantly younger compared to ILD without autoimmune disease (59.28 vs 72.32 years, p <0.0001), RA (69.72 vs 72.17 years, p <0.0001), Scleroderma (62.01 vs 72.28 years, p < 0.0001), Myositis (59.56 vs 72.19 years, p <0.0001) and MCTD (59.6 vs 72.18 years, p <0.0001). On examining the racial distribution, the African American population with ILD when compared to other races were more likely to have underlying SLE, MCTD, Myositis or Scleroderma. In ILD with RA, Native Americans were the most affected racial demographic followed by African Americans.Average cost of hospitalization was higher in ILD with MCTD ($104,631 vs $71,264.6, p<0.0001), Myositis ($105,623 vs $71,232.9, p<0.0001) and Scleroderma ($88,736.2 vs $71,135.5, p<0.0001). Average LOS was significantly longer in RA (7.17 vs 6.66 days, p value 0.0006), MCTD (7.71 vs 6.67 days, p value 0.0008), Myositis (8.33 vs 6.66 days, p value <0.0001) and Scleroderma (7.07 vs 6.67 days, p value 0.0176). Though not significant, average LOS was longer in SLE (6.79 vs 6.67 days, p value 0.4999).Our study shows that the prevalence of RA in ILD cases has significantly reduced through the years. This can be attributed to the better understanding of the disease and its risk factors as well as the availability and use of newer biologic agents to obtain better control. However, the prevalence of SLE, Scleroderma, and MCTD in ILD cases has increased over the years. This points to the need for better therapies as well as highlights the fact that the overall recognition and diagnosis of these diseases have increased over the years. Racial predilection also comes to light, suggesting the need for special attention to certain races to diagnose the autoimmune disease earlier. Average LOS and cost of hospitalization were also higher in ILD cases with autoimmune disease, reflecting the higher socioeconomic burden.None declared

Pos0863 anti-nor90 antibodies in the setting of connective tissue disease: clinical significance and comparison with a cohort of patients with systemic sclerosis

Abstract: Anti-NOR90 antibodies are directed against a 90-kD nucleolar protein located in the nucleolus organizing regions (NORs), mainly described in systemic sclerosis (SSc) [1, 2, 3] but reported also in other rheumatologic and oncologic diseases [4, 5, 6]. The clinical correlates of anti-NOR90 antibodies are still to be defined because the cohorts described thus far include a low number of patients.To describe the characteristics of a large cohort of anti-NOR90 antibodies positive patients and compare them with a matched cohort of SSc patients negative for anti-NOR90 antibodies.A retrospective analysis was performed on patients positive for anti-NOR90 antibodies referring to participating centres. The concomitant positivity for anti-RNA polymerase III, Th/To, PM-Scl, Ku, and PDGFR antibodies was an exclusion criterion. In all cases the diagnoses, the different organ involvement and related clinical, instrumental and laboratory characteristics were evaluated. The EUROLINE SystemicSclerosisProfile kit from Euroimmun (Lübeck, Germany) was used to detect anti-NOR90 antibodies.We included 101 patients positive for anti-NOR90 (M/F=13/88, mean age 52.5 years). They were mainly classified as SSc (n=38), undifferentiated connective tissue disease (UCTD) (n=21), interstitial pneumonia with autoimmune features (IPAF) (n=11) (graph 1). The most frequent clinical manifestations were arthralgias (n=72), Raynaud’s phenomenon (RP) (n=58), sicca syndrome (n=49), ILD (n=40), puffy fingers (n=32), arthritis (n=30), and limited skin sclerosis (n=24). Anti-NOR90 antibodies were associated with anti-Ro52 antibodies in the 16% of cases, with anticentromere antibodies in the 7% of cases, and with anti-Scl70 in the 5% of cases. After excluding these patients, and considering the isolated anti-NOR90 positivity, 12 patients had SSc, 35 UCTD, and 11 IPAF. The most frequent clinical manifestations were arthralgias (n=40), RP (n=37), and sicca syndrome (n=21). Compared to 242 matched SSc without anti-NOR90 antibodies, patients with anti-NOR90 had more frequently joint manifestations and sicca syndrome and less frequently all vasculopathic manifestations (RP, telangiectasias, pitting scars, acral ulcers), dysphagia and fibromyalgia.Our study shows that anti-NOR90 antibodies are more commonly observed in females, and clinically associated with the occurrence of arthritis/arthralgias, sicca syndrome and RP. In more than the 50% of cases they may be found with other autoantibodies, such as the anti-Ro52, the anticentromere, and the anti-Scl70 antibodies. Anti-NOR90 seems to play an accompanying role in the context of CTDs, without strong influence on the clinical phenotype expression of the underlying CTD.[1]Rodriguez-Sanchez et al., Anti-NOR 90. A new autoantibody in scleroderma that recognizes a 90-kDa component of the nucleolus-organizing region of chromatin, 1987.[2]Hamaguchi et al., Clinical and immunologic predictors of scleroderma renal crisis in Japanese systemic sclerosis patients with anti-RNA polymerase III autoantibodies, 2015.[3]Liaskos et al., Disease-related autoantibody profile in patients with systemic sclerosis, 2017.[4]Imai et al., Immunocytochemical characterization of human NOR-90 (upstream binding factor) and associated antigens reactive with autoimmune sera. Two MR forms of NOR-90/hUBF autoantigens, 1994.[5]Fujii et al., Detection of autoantibodies to nucleolar transcription factor NOR 90/hUBF in sera of patients with rheumatic diseases, by recombinant autoantigen-based assays, 1996.[6]Yamashita et al., Clinical significance of anti-NOR90 antibodies in systemic sclerosis and idiopathic interstitial pneumonia, 2021.Figure 1.None declared

Myopericarditis : an unusual initial presentation of uctd

Abstract: Diagnosis of connective tissue diseases is often delayed because the initial symptoms are few and non specic. A new entity called undifferentiated connective tissue disease(UCTD) has been recently described. It is a diagnosis of exclusion. We report the case of a 40yr old female, not a known case of any connective tissue disorder who presented to us with fever, dyspnea and chest pain as initial symptoms and nally diagnosed as myopericarditis secondary to UCTD.

PO.2.49 Predictors of progression in undifferentiated connective tissue disease: a systematic review and meta-analysis

Abstract:

Purpose

Undifferentiated connective tissue disease (UCTD) is characterised by symptoms and immunology suggestive of a systemic autoimmune diseases that are not sufficient to diagnose a defined connective tissue disease (CTD). Approximately one third of patients with UCTD will develop a defined CTD, most commonly systemic lupus erythematosus (SLE). The identification of profiles predictive of progression has clinical, therapeutic and prognostic implications. The aim of this systematic review and meta-analysis was to identify whether demographics, clinical and immunological parameters, and novel biomarkers can predict progression from UCTD to SLE.

Methods

MEDLINE, EMBASE and the Cochrane Central Register of Randomized Controlled Trials were systematically searched from inception until February 2021. Abstracts and full-text manuscripts were screened by two reviewers. Publications were included if they included at least 20 UCTD patients, a minimum of six months of follow up, and provided data on at least one risk factor for developing a defined CTD. QUIPS tool was used to assess risk of bias and GRADE approach for grading the quality of the evidence. For predictors reported in at least two studies, meta-analysis was carried out using random-effects models to pool effect sizes. Heterogeneity was assessed using the standard chi-squared test and I2 statistic. Influence analysis was carried out to identify outlier studies with extreme effect sizes. Publication bias was assessed using visual inspection of funnel plots and Egger’s test. The study is registered with PROSPERO (ID: CRD42021237725)

Results

A total of 3871 articles were initially identified via the literature search; 2559 abstracts were screened and 196 full-texts were reviewed for eligibility. Forty-five studies were included in the systematic review, and thirty-three in the meta-analysis. Key results are summarised in Table 1. The predictors for progression to SLE with the highest quality of evidence included those with younger age, serositis or the presence of anti-dsDNA antibodies. Other clinical predictors included renal involvement, mucocutaneous involvement (malar rash, alopecia, photosensitivity), thrombocytopenia and a positive Coombs’ test. Immunological parameters associated with progression included a homogenous pattern of ANA, hypocomplementaemia, positive anti-Smith, anti-cardiolipin and/or anti-SSA antibodies. No novel biomarkers were included in the meta-analysis. HLA antigens, T-regulatory cell shift, and complement activation products were reported as potential predictors in single studies. All studies were rated as high or moderate risk of bias. Significant publication bias was not observed.

Conclusions

Demographic, clinical and immunological parameters may predict which patients with UCTD progress to SLE. The baseline predictors with the highest quality of evidence included those with younger age, serositis or presence of anti-dsDNA antibodies. Further work is required to investigate the role of novel biomarkers in predicting progression from UCTD to SLE. High study heterogeneity, risk of bias and low quality of evidence limits the extrapolation of these results.

Performance of the systemic lupus erythematosus risk probability index in a cohort of undifferentiated connective tissue disease.

Abstract: OBJECTIVES We sought to evaluate the performance of the systemic lupus erythematosus (SLE) Risk Probability Index (SLERPI) for identification of SLE in a large cohort of patients with undifferentiated connective tissue disease (UCTD). METHODS The SLERPI was applied in a cohort of patients who met classification criteria for UCTD and did not fulfill any classification criteria for other defined CTD including SLE. Patients with a SLERPI score of > 7 were "diagnosed" as SLE. Patients diagnosed with SLE and those not, were compared in terms of disease characteristics and index parameters. RESULTS A total of 422 patients with UCTD were included in the study. Median (IQR) SLERPI was 4.25 (2.5) points, while 39 (9.2%) patients had a SLERPI score >7 and were diagnosed as SLE. Patients with younger age (p = 0.026) and presence of malar rash (p < 0.0001), mucosal ulcer (p < 0.0001), alopecia (p < 0.0001), ANA positivity (p < 0.0001), low C3 and C4 (p = 0.002), proteinuria>500 mg/24 hours (p = 0.001), thrombocytopenia (p = 0.009) or autoimmune haemolytic anaemia (p < 0.0001) were more likely to fulfill criteria for SLE by the SLERPI. CONCLUSION SLERPI enabled a significant proportion of patients to be identified as SLE in our UCTD cohort. This new probability index may be useful for early identification of SLE among patients with signs of CTD without fulfilling any definite criteria set.

An Unusual Association – Multiple Sclerosis And Systemic Lupus Erythematosus

Abstract: Even though multiple sclerosis (MS) and systemic lupus erythematosus (SLE) are both autoimmune diseases, their association in the same patient is uncommon. We present the case of a 50-year-old woman who was diagnosed with MS and treated with glatiramer acetate. After 6 months she developed a systemic disease and multiple serological tests were performed. At that time, only the diagnosis of undifferentiated connective tissue disease (UCTD) could be established and treatment with hydroxychloroquine was added. The subsequent development of more clinical features led to a fulfillment of the criteria for SLE. This is one of the very few reported cases in which both MS and SLE were documented in the same patient, with the diagnosis of MS preceding the diagnosis of SLE.

Ab1384 clinical significance of dense fine speckled pattern ana

Abstract: The clinical significance of Dense Fine Speckled (DFS) pattern Anti-nuclear antibodies (ANA) by indirect immunofluorescence method (IIF) is unclear and has been inversely associated with rheumatic disease 12.Our purpose was to determine associations between DFS pattern ANA and the disease categories of inflammatory arthritis, ANA associated rheumatic diseases (AARD), fibromyalgia/chronic pain syndrome/chronic fatigue syndrome and atopic disorder.This retrospective study used data from patients tested for ANA by IIF between August 2017 to August 2019 at the University of Minnesota Medical Center. Comparisons between the diagnostic categories listed in objectives were made for patients with negative ANA, positive ANA (any pattern) and DFS pattern. Individual disease diagnoses belonging to the above categories were also analyzed. The inflammatory arthritis category included seropositive rheumatoid arthritis (RA), seronegative RA, RA with unknown serology, ankylosing spondylitis, and psoriatic arthritis. The disease category of AARD included systemic lupus erythematosus (SLE), systemic sclerosis, mixed connective tissue disease, idiopathic inflammatory myopathies, Sjogren’s syndrome (SS), and undifferentiated connective tissue disorder (UCTD). Atopic disorders included atopic dermatitis, allergic rhinitis, urticaria, and asthma. Frequency of Raynaud’s phenomenon (RP) was also calculated.13,845 patients with an ANA during the study period were identified. 9106 (65.8%) had negative ANA and 4739 (34.2%) had positive ANA by IIF (including all patterns). 640 (4.6%) had ANA positive DFS patterns. Relative risk (RR) was calculated for diagnostic categories and individual diseases. For patients with positive ANA and DFS pattern, the RR for diagnostic codes of inflammatory arthritis categories [1.35 (1.07- 1.71), p=0.02] was higher when compared to the frequency of codes in ANA negative. RR for AARD among patients with DFS pattern was also higher [1.78 (1.44- 2.2), p <0.001]. There was no significant difference in the frequency of diagnostic codes of chronic pain/fibromyalgia/chronic fatigue syndrome [1.02 (0.9- 1.2), p=0.84] atopic disorder [0.68 (0.4- 1.15), p=0.16] for DFS+ compared to the ANA group. The frequency of AARD diagnostic codes was lower for patients with DFS pattern [0.64 (0.52- 0.79), p<0.001] compared to ANA positive patients with all other patterns, consistent with published data. There was no significant difference of frequency of diagnostic codes for the rest of the disease categories when comparison was made between ANA positive DFS pattern and ANA positive with other patterns.Individual disease diagnostic codes of RA were higher among DFS+ patients when compared to ANA- patients. The frequency of diagnostic codes of SLE, SS, UCTD, fibromyalgia, Raynaud’s phenomenon, and autoimmune thyroid disease was also higher among patients with DFS pattern compared to ANA- patients. The frequency of diagnostic codes of seropositive RA was lower among patients with DFS pattern compared to ANA+ with all other patterns. The frequency of diagnostic codes of SLE, SSc, UCTD, and chronic pain was also lower among DFS+ patients, compared to those with ANA of all other patterns, consistent with prior reports.The frequency of diagnostic codes of RA, SS and Raynaud’s was higher among DFS pattern ANA compared to ANA negative group but was not significantly different from ANA positive with other patterns. This suggests that the presence of a DFS pattern should not be used to indiscriminately exclude the presence of a rheumatic disease.[1]Mariz HA, Sato EI, Barbosa SH, Rodrigues SH, Dellavance A, Andrade LEC. Pattern on the antinuclear antibody-HEp-2 test is a critical parameter for discriminating antinuclear antibody-positive healthy individuals and patients with autoimmune rheumatic diseases. Arthritis Rheum. 2011;63(1):191-200. doi:10.1002/art.30084[2]Watanabe A, Kodera M, Sugiura K, et al. Anti-DFS70 Antibodies in 597 Healthy Hospital Workers. ARTHRITIS Rheum. 2004;50(3):892-900. doi:10.1002/art.20096None declared

Ab0556 characteristics of patients diagnosed with undifferentiated connective tissue disease

Abstract: Patients with undifferentiated connective tissue disease (UCTD) struggle with physical symptoms as well as diagnostic uncertainty.1 UCTD diagnosis requires exclusion of other connective tissue diseases (CTD). Prior studies use variable definitions of UCTD that do not account for updated classification criteria thus limiting generalizability.We identified characteristics associated with rheumatologist-diagnosed UCTD, applied strict exclusion criteria, and compared UCTD patients to those with criteria-defined CTD.We recruited patients ≥18 years old seen between 2018-2022 who had rheumatologist-diagnosed UCTD with positive ANA and ≥1 sign/symptom of a CTD. We reviewed medical records to identify those who fulfilled ACR/EULAR-endorsed classification criteria for SLE, RA, SSc, Primary Sjögren’s, Idiopathic Inflammatory Myopathy, and 2006 Revised Sapporo Criteria for APS. We compared sociodemographic, clinical, serologic, and treatment variables between UCTD and CTD using chi-square, Fisher’s exact, and t-tests.Of 89 patients with rheumatologist-diagnosed UCTD (mean age 49.0 ± 13.7 years, 97.8% female, 66.3% White), 59 (66.3%) had UCTD and 30 (33.7%) had criteria-defined CTD (27 SLE, 3 SLE and RA, 1 RA, and 1 APS).Patients in both groups had similar non-criteria manifestations, most commonly arthralgia (89.8% UCTD vs. 83.3% CTD, p=0.50) and fatigue (55.9% UCTD vs. 73.3% CTD, p=0.17). Compared to patients with CTD, those with UCTD were less likely to have nonerosive arthritis (27.1% vs. 56.7%, p=0.01) (Table 1).Table 1.Characteristics of Patients with UCTD or Criteria-Defined CTDUCTD1 (n=57), N (%)CTD2 (n=32), N (%)p-valuesClinical3,4•,4nicalN (%))cs of Pa16 (27.1)17 (56.7)0.01•.0156.7) (%))cs of Patients with UCTD or Criteria31 (52.5)18 (60.0)0.65•.6560.0) (%))cs of Patient7 (11.9)4 (13.3)1.0•.013.3)) (%))cs of Patients with UCTD or Criteria-Defined C27 (45.8)14 (46.7)1.0•.0(46.7) (%))cs of Patien24 (40.7)11 (36.7)0.82Serology3•erology) (%))cs of Patients with UCTD or Criteria-Defined CTDth19 (32.2)19 (63.3)<0.01•0.013.3) (%))cs of Patien9 (15.3)13 (4.3)<0.01•0.01.3)) (%))22 (37.3)25 (83.3)<0.01•0.013.3) (%))cs of Patients w10 (16.9)6 (20.0))0.77•.770.0)) (%))cs of Patients with UCTD or Criteria-D6 (10.2)2 (6.7)0.71•.71.7))) (%))cs of Patients with UCTD or Criteria-Defined CTDther CTDs. Our fi18 (30.5)10 (33.3)0.81•.8133.3) (%))cs11 (18.6)6 (20.0)1.01. Do not fulfill ACR/EULAR classification criteria for SLE, RA, SSc, PSS, IIM, APS.2. Diagnosed with UCTD and fulfill ≥1 set of listed CTD classification criteria.3. Defined per listed classification criteria4. Criteria with n≤5: fever, proteinuria/cellular casts, pulmonary hypertension, interstitial lung disease, dysphagia/esophageal dysmotilityPatients with UCTD were less likely than those with CTD to have any hematologic manifestation (lymphopenia, leukopenia, thrombocytopenia, or hemolytic anemia) (p=0.02), anti-dsDNA or anti-Smith antibodies (p<0.01), or hypocomplementemia (p<0.01). The frequency of RA, Sjogren’s, and APS-related serologies did not differ between groups (Table 1).Compared to those with CTD, UCTD patients were less likely to have ever received systemic corticosteroids (71.2% vs. 96.7%, p<0.01); ever use of any disease-modifying antirheumatic drug (DMARD) was similar (35.6% vs. 46.7%, p=0.36).Among patients diagnosed with UCTD, 66.3% met a stringent definition. Compared to those with criteria-defined CTD, UCTD patients had lower frequency of arthritis, hematologic abnormalities, SLE-specific antibodies, and hypocomplementemia. While use of DMARDs did not differ, UCTD patients were less likely to use systemic corticosteroids.Rheumatologists diagnose UCTD even when criteria are met for other CTDs. Our findings suggest UCTD is nonetheless a distinct clinical entity; more rigorous characterization will enable generalizable prognostic and therapy trials.[1]Siegel CH, et al. J Clin Rheumatol 2021 Mar 5. doi: 0.1097/RHU. 0000000000001714None declared

Association of peripheral bone fractures and signs of undifferentiated connective tissue dysplasia

Abstract: Associations of phenotypic signs of undifferentiated connective tissue dysplasia (UCTD) and bone fractures not related to postmenopausal, senile or glucocorticoid osteoporosis are discussed. A cross-sectional study enrolled 458 persons (143 had a history of fractures). A significant predominance of individuals with fractures in the UCTD group was revealed. Strong positive correlations of the total number of fractures with the number of external signs of UCTD (p<0.0001), internal signs of UCTD (p<0.0001), Beighton joints hypermobility index (p<0.0001) were found. Weak positive correlations of the number of fractures with the height (p=0.02) and arms span (p=0.011), and the personal smoker index (p=0.01) were revealed.

Ab1073 high incidence of viruses infection in connective tissue diseases patients

Abstract: Connective tissue diseases (CTDs) are a group of diseases with a variety of clinical manifestations. The main drug was glucocorticoids and immunosuppressive drugs, but the results are not satisfactory and the side effects are obvious, increased the incidence of infection, especially opportunistic infections. Infections becomes important causes of morbidity and mortality in CTD patients.To evaluate the incidence of infection in CTD patients who were clinically considered for co-infection by a combination of metagenomic next-generation sequencing (mNGS) and conventional diagnostic testing methods.We analyzed 126 connective tissue diseases (CTD)patients with suspected infections admitted to The Second Hospital of Shanxi Medical University. All patients with CTD were diagnosed according to relevant diagnostic criteria, including 34 systemic lupus erythematosus (SLE), 24 dermatomyositis and polymyositis (DM/PM), 19 rheumatoid arthritis (RA), 10 undifferentiated connective tissue disease(UCTD),16 Sjogren syndrome (SS), 5 mixed connective tissue disease (MCTD), 5 ANCA associated systemtc vasculitis (AAV), 5 adult onset Stillystemtc isease disease(tic criteria, including 34nfections admitted to The Second Hospital of Shanxi (TA), 1 systemic sclerosis (SSC), 1retroperitoneal fibrosis (RPF). All enrolled patients were tested for conventional diagnostic testing methods(CDT) and mNGS.Among the 126 patients with CTD who were clinically considered for co-infection, 31 patients were negative for mNGS, and pathogens were detected in 99 of them. In our results, the mNGS and CDT were both positive for pathogens detection in 28 individuals.Of both positive individuals, 2 cases were perfect matches,12 cases were partly matched, 14 cases were totally mismatched. A total of 23 cases were negative for both mNGS and CDT. 70 cases were positive for mNGS only.There were only 5 cases positive for pathogens detection by CDT only. In addition, the results of mNGS showed that 131 patients were virus-positive(54%), 78 patients were prokaryotes-positive (37%) inculding bacteria, mycoplasma and 14 patients were eukaryotes-positive (9%). Of course, someones have mixed infections among these patinets some of these patients, with two or more pathogens. In the mixed infection, 5 cases have no viruses infection, 38 cases with virus infection, including 20 cases of bacteria and viruses infection, 4 cases of bacteria,fungi and viruses infection, 9 cases of viruses mixed infection, 1 case of bacteria,viruses,fungi and mycoplasma infection, 1 case of bacteria,viruses and mycoplasma infection, 1 case of viruses and mycoplasma infection, 1 case of viruses and fungi infection. According to the results, viruses were the most common pathogens identified, followed by prokaryotes and eukaryotes. It is noteworthy that the incidence of Human gammaherpesvirus 4(EBV), Human betaherpesvirus 5(CMV) and Human alphaherpesvirus 1 are more common in virus-positive. The most frequently detected prokaryotes were Acinetobacter baumannii, Mycobacterium tuberculosis complex, followed by Staphylococcus aureus, Prevotella melaninogenica,Staphylococcus homini and Helicobacter pylori. The major pathogens were Pneumocystis jirovecii and Candida albicans among eukaryotes-positive individuals.As a complementary approach to conventional methods, mNGS could help improving the identification of infection in CTD patients.The incidence of viral infection is high in patients with connective tissue disease and close attention should be paid to it in clinical works.Figure 1.A. Comparison of test results between mNGS and conventional diagnostic testing methods(CDT) in CTD patients. B. The classification of mixed infections with or without viruses infection detected by mNGS and conventional diagnostic testing methods(CDT).Figure 2.Distribution of pathogens detected by mNGS. A. Type distribution of pathogens identified by mNGS. Species distribution of viruses of B.viruses, C.Prokayote, D. Eucayon detected by mNGS.None declared

AB0670 Mixed connective tissue disease in a tertiary care hospital

Abstract: Background Mixed connective tissue disease is a rare syndrome characterized by the appearance of Raynaud’s phenomenon, arthritis and edema in the hands, muscle weakness, dysphagia and dyspnea;It consists of the mixture of symptoms present in other collagen diseases such as erythematosus systemic lupus, scleroderma, polymyositis and rheumatoid arthritis, but without meeting diagnostic criteria for any of them. Objectives -Describe the clinical characteristics of a cohort of patients diagnosed with mixed connective tissue disease. -Study the evolution of these patients to other inflammatory autoimmune diseases. Disease conversion was defined as the appearance of new symptoms and autoantibodies compatible with another rheumatic disease. Methods Retrospective descriptive study of patients treated at our Hospital (2010-2020) by the Rheumatology and Internal Medicine service with a diagnosis of mixed connective tissue disease. The data was obtained through the review of medical records. Results 63 patients were included, of whom 56 were women (88%) and 7 men (12%). The average age of diagnosis is 37 +/- 13 years. At the end of the period, only 36.5% (23 patients) met criteria for mixed connective tissue disease. Of the 40 patients (65.5%) who underwent conversion to another autoimmune collagen disease, 65% (26 patients) met the criteria for systemic lupus erythematosus, 22.5% (9 patients) met the criteria for systemic sclerosis, 5% (2 patients) met criteria for rheumatoid arthritis and 7.5% (3 patients) for other systemic collagen pathologies. Of the initial sample of patients, 15 patients (23.8%) developed secondary Sjögren’s disease. Regarding symptoms, in order of frequency, 50 patients (79.3%) of the sample presented myalgia, 39 patients (61.9%) sclerodactyly, 30 patients (47.61%) presented Raynaud’s phenomenon, 10 patients (15.87%) esophageal alterations and 4 patients (6.3%) presented interstitial lung disease. Regarding treatment, 60% of the sample used corticosteroids, 52% hydroxychloroquine, 31.7% methotrexate, 23.8% mycophenolate, and 1.6% required rituximab. In the analyzed period, 2 patients died (3.17%), none as a result of their rheumatic disease. Conclusion The results obtained are consistent with those reported in the medical literature. The majority of patients with mixed connective tissue disease ended up progressing to another autoimmune collagen disease, mainly systemic lupus erythematosus and systemic sclerosis. According to our studies, stricter classification criteria would be convenient. However, more powerful and longer-term studies are needed to be able to draw conclusive conclusions. Disclosure of Interests None declared

POS0756 DETERMINANTS OF HEALTH-RELATED QUALITY OF LIFE (HR-QoL) ACROSS THE SPECTRUM OF SYSTEMIC AUTOIMMUNE RHEUMATIC DISEASES: RESULTS FROM THE LEAP COHORT

Abstract: Poor health-related quality of life (HR-QoL) is recognised in patients with established connective tissue diseases (CTDs), however it is not clear how it affects patients with undifferentiated CTD (UCTD) which has traditionally been associated with a mild or more benign profile.To investigate HR-QoL in patients affected with a variety of CTDs (including UCTD) using the SF-36 questionnaire; and secondly, to review demographic and clinical factors predictive of a poor HR-QoLThe Lupus Extended Autoimmune Phenotype (LEAP) cohort is a multicentre prospective study of patients with a CTD. Rheumatologist diagnosis was used to classify patients into four groups: systemic lupus erythematosus (SLE), primary Sjögren’s syndrome (pSS), UCTD, and (combined because of low numbers) those with an idiopathic inflammatory myopathy (IIM), systemic sclerosis (SSc) or overlap syndrome. The SF-36 quality of life questionnaire was completed at enrolment and includes eight domains: physical function (PF), role physical (RP), bodily pain (BP), general health (GH), vitality (VT), social functioning (SF), role emotional (RE) and mental health (MH) which range from 0 to 100, with higher scores reflecting better HR-QoL. Physical (PCS) and mental component score (MCS) were calculated for each group, with a score below 50 representing a worse HR-QoL compared to the general UK population. Predictors for poor HR-QoL was chosen a priori, then tested using linear regression adjusted for age, gender and ethnicity. All statistical analysis was performed using STATA v14, with results expressed as beta coefficients with 95% confidence intervals (95%CI).Data were collected from 309 patients (280 [90.6%] women, with a mean [SD] age of 48.9 [12.9] years) from three UK rheumatology centres. The majority of patients were Caucasian (n=235, 76.1%). By rheumatologist diagnosis, 115 (37.2%) had SLE, 56 (18.1%) pSS, 72 (23.3%) UCTD and 66 (21.4%) SSc, IIM or an overlap syndrome. Patients with UCTD, pSS and SSc/IIM spectrum disorders had a shorter median disease duration (3.8, 3.7 and 6.1 years respectively) compared with patients with those with SLE (11.0 years), p<0.001. Previous steroid and immunosuppressant use was highest in patients with SLE and SSc/IIM spectrum disorders (p<0.001). The most affected domains include VT, GH and BP (Figure 1), and the PCS is more impaired compared with the MCS, with similar scores across disease groups. Agnostic of disease group, factors associated with a lower PCS include increasing age (beta -0.15 [95%CI -0.26, -0.06], p=0.008), prednisolone use (-3.1 [-6.05, -0.19], p=0.037), c-reactive protein (-0.09 [-0.62, -0.10], p=0.007), fatigue (-2.00 [-3.79, -0.22], p=0.028), and sicca syndrome (-4.70 [-7.66, -1.74] p=0.002), and these remained significant in a multivariate model.Figure 1.radar diagrams of eight SF-36 domains, and MCS and PCS boxplots. SLE; systemic lupus erythematosus; UCTD, undifferentiated CTD; pSS, primary Sjögren’s syndrome; IIM, idiopathic inflammatory myopathy; SSc, systemic sclerosis; PF, physical function; RP, role physical; BP, bodily pain; GH, general health; VT, vitality; SF, social functioning; RE, role emotional; MH, mental healthPatients with UCTD exhibit similar impairment in physical components of HR-QoL compared with other established CTDs, despite perceived differences in disease severity. This study highlights sicca syndrome, fatigue, and steroid burden as key targets for improving HR-QoL in patients across the spectrum of CTDs.Sarah Dyball Grant/research support from: UCB and Eli Lilly, John Reynolds: None declared, Ariane Herrick Speakers bureau: Janssen, Consultant of: Arena, Boehringer-Ingelheim, Camurus, CSL-Behring, and Gesynta, Grant/research support from: Gesynta, Hector Chinoy Speakers bureau: UCB, Biogen, Consultant of: Novartis, Eli Lilly, Orphazyme, Astra Zeneca, Grant/research support from: Eli Lilly and UCB, Sahena Haque: None declared, Sophia Naz: None declared, Ellen Bruce: None declared, Ian N. Bruce Speakers bureau: AstraZeneca, GSK and UCB, Consultant of: AstraZeneca, Eli Lilly, GSK, Merck Serono, UCB and ILTOO, Grant/research support from: Genzyme/Sanofi, GSK, Roche and UCB, Ben Parker Speakers bureau: Eli Lilly and Roche, Consultant of: Fresenius-Kabi and AbbVie, Grant/research support from: Genzyme/Sanofi and GSK

Diastolic dysfunction in late postmenopausal patients with undifferentiated connective tissue disease and hypertension

Abstract: Aim. To assess myocardial diastolic function (DF) in late postmenopausal women with undifferentiated connective tissue disease (UCTD) and hypertension (HTN).Material and methods. This cross-sectional study included 135 postmenopausal women, the median age of which was 68 years (65÷70,5 years). The anamnesis was collected using a standardized questionnaire. Verification of UCTD was carried out according to clinical guidelines. All patients underwent standard transthoracic echocardiography. The assessment of left ventricular (LV) DF was carried out according to the transmitral flow. LV diastolic dysfunction (DD) was classified into three types: rigid, pseudonormal, and restrictive. Statistical processing was carried out in the STATISTICA 13.0 environment. The measure of data averaging is the median, the measure of dispersion is 25%÷75%. The significance of differences was assessed using the Mann-Whitney test. Differences were considered significant at p˂0,05.Results. Group 1 — 20 (14,8%) patients with verified UCTD and HTN, group 2 — 88 (65,2%) patients with HTN without UCTD, control group — 23 (30%) patients without HTN and UCTD. There were no differences in age, duration of postmenopause and body mass index between the groups. In the first group, a significant decrease in the ratio of peak early to late diastolic LV filling velocity was revealed (p˂0,01). A significant increase in left ventricular end-systolic wall stress revealed in group 1. In 108 (100%) patients, LVDD was detected; among the patients of the control group, DD was not detected. In 8 (40%) patients in group 1, a pseudo-normal type of DD was detected, while in 12 out of 20 patients (60%) — rigid type of DD. When assessing DF in patients of group 2, a significant decrease was found in the ratio of peak early to late diastolic LV filling velocity, a significant increase in LV end-diastolic wall stress and end-diastolic pressure. In 2 out of 3 (57,80%) patients of group 2, DD of the rigid type was detected, while pseudonormal type — in 32,2% of patients in this group. Group 2 patients had a significant decrease in the early diastolic mitral annular velocity (p˂0,01).Conclusion. The analysis of myocardial echocardiographic characteristics indicates a significant contribution of HTN-associated UCTD to the development of LVDD in postmenopausal women.

Outcomes and Influencing Factors of 126 Pregnancy Patients with Undifferentiated Connective Tissue Disease: A Real-world Prospective Study

Abstract: Abstract Background : Undifferentiated connective tissue disease (UCTD) patients have various clinical manifestations and tend to relapse during pregnancy. To analyze the factors influencing pregnancy outcomes, we observed the clinical characteristics of pregnant patients with UCTD and fetal abnormalities events, and compared the disease activity and differences in treatment between adverse pregnancy outcomes (APO) and normal pregnancy outcomes (NAPO). Methods : 126 pregnancies of 124 UCTD patients were enrolled from September 2018 to October 2021. Participants were divided into the non-aPL (no positive aPL or NC-aPL) group and aPL group. Subgroups (APO and NAPO group) were set according to the outcomes of pregnancy (failed pregnancy group and successful pregnancy group). The clinical characteristics, treatment, and the differences in pregnancy outcomes of each subgroup were analyzed. Results : The incidence of fetal Doppler ultrasound abnormalities events (DUAE) and APO was different in patients with different antibodies during pregnancy. In the previous pregnancy outcomes, failed pregnancies (especially the unexplained spontaneous abortion within 10 weeks, p =0.033) were more common in the aPL group ( p =0.048). The usage of low dose asprin (LDA) combined with low molecular weight heparin (LMWH) in the aPL group was significantly higher than that in the non-aPL group ( p <0.001, p =0.005, p <0.001, respectively ) . In APO group, the percentage of late fetal loss (≥10 weeks of gestation) in previous pregnancies was 34.4% (11/32)，compared to the 12.8% (12/94) in NAPO cases ( p =0.006). Positive aβ2GPI-IgG and the incidence of thrombocytopenia were higher in APO than the NAPO group, that was 31.3% vs. 13.8% ( p =0.028), 18.8% vs. 4.3%, (p =0.025), respectively. Multivariate analysis confirmed that the occurrence of late fetal loss in the past, positive aβ2GPI-IgG, and thrombocytopenia was involved as the risk factors of this oncoming APOs. Conclusion : UCTD patients, whether with aPLs or not, had high-risk pregnancies, and the live birth rate was around 90%. Anti-coagulations were more likely to be needed in patients with positive aPLs and can improve some DUAEs in pregnancies. The influencing factors of APO included the history of late fetal loss, positive aβ2GPI-IgG, and thrombocytopenia.

Parameters of the global longitudinal myocardial deformation of the left ventricle in young women with connective tissue dysplasia

Abstract: Diagnosis of undifferentiated connective tissue dysplasia (UCTD) is a complex and controversial problem in the clinic of internal diseases. The medical and social significance of UCTD in young women is due to the variability of symptoms and the progressive course with multiple organicity and polysystemic disease. In therapy and cardiology, attention is focused on the issues of timely diagnosis of heart failure (HF) in individuals with preserved left ventricular ejection fraction (LV EF). Expert-grade ultrasound scanners are used to identify preclinical signs of LV myocardial dysfunction and assess LV myocardial deformation. In young women with UCTD, the indicators of global longitudinal systolic LV deformation have not been specifically studied before. The purpose — to evaluate clinically the longitudinal deformation of the LV in young women with UCTD using speckle tracking echocardiography. Material and methods. Global longitudinal peak strain (GLPS_Avg) was assessed in 30 young women with UCTD (average age 24.2 (2.8) years). The control group included 32 practically healthy women, comparable in age (23.9 (2.4)) years without signs of UCTD. Results. The echographic parameters in both groups did not differ significantly (p>0.05) and were within the normative values. According to the GLPS_Avg assessment, it was found that the global longitudinal systolic LV deformation in the group of young women with UCTD was significantly lower than in the control group (p = 0.008). The results obtained may indicate a violation of the contraction and relaxation of the longitudinal fibers of the myocardium in young women with UCTD. Conclusion. It can be assumed that a reliable indicator of global longitudinal systolic LV deformation (GLPS_Avg) is explained by the presence in young women with UCTD of a defect in the connective tissue framework of the heart, which serves as a substrate for LV myocardial remodeling in this group of patients. Probably, there is a violation of the contraction and relaxation of the longitudinal fibers of the myocardium in young women with preserved LV EF. We can only guess the direction of further remodeling of the LV myocardium in young women with UCTD.

Undifferentiated connective tissue dyplasia as a risk factor of gestational complications

Abstract: Objective. To establish the value of undifferentiated connective tissue dysplasia (UCTD) as a risk factor for complications of pregnancy and labor. Material and methods: A prospective, cohort, randomized, controlled trial was conducted. Taking into account inclusion and exclusion criteria, the study included 228 women aged 18-42 years. 2 groups have been formed. The main group was 125 patients. The comparison group was 103 pregnant women with no signs of undifferentiated connective tissue dysplasia. The features of the menstrual cycle, the course of pregnancy and childbirth and perinatal outcomes were studied. Results. The role of UCTD is demonstrated as a risk factor in the development of pregnancy and childbirth complications: the presence of UCTD increases the likelihood of the threat of termination of pregnancy in the first trimester by 2.7 times, in the second and third trimesters by 3.4 and 3.9 times, respectively. Among pregnant women with manifestations of UCTD, the probability of developing placental disorders was 227% (CI 172.6-281.4) higher than in the control group. Conclusion. Optimization of the management of the preconception period, pregnancy and childbirth in patients with UCTD will improve perinatal outcomes.