Ulnar artery vasculopathy: a common but nonspecific feature of systemic sclerosis

2017 ◽  
Vol 2 (3) ◽  
pp. 221-224
Author(s):  
Tae-Jong Kim ◽  
Soon-Young Song ◽  
Hee Chang Ahn ◽  
Yoon-Kyoung Sung ◽  
Sang-Cheol Bae ◽  
...  

Introduction Systemic sclerosis (SSc) is characterized by microvascular abnormalities and fibrosis. Several studies have reported that large vessel disease is also common in SSc. The aim of this case series was to investigate whether ulnar artery involvement in patients with SSc is a disease-specific phenomenon, as compared to other connective tissue diseases (CTD). Methods A total of 28 patients, including 7 with SSc and 12 with systemic lupus erythematosus (SLE), underwent brachial arteriography due to severe Raynaud's phenomenon and/or digital ulcerations and were enrolled in the study. They were divided into two groups: an SSc/SSc-overlap group and a non-SSc group. The collection of the clinical parameters was conducted to investigate the associations between clinical factors and the ulnar artery vasculopathy. Results The SSc/SSc-overlap group (n = 10) consisted of 7 patients with SSc and 3 with features overlapping SSc. In the non-SSc group (n = 18), 12 cases of SLE, 2 of mixed connective tissue disease, 1 of dermatomyositis + SLE, 1 of rheumatoid arthritis, 1 of Sjogren's syndrome, and 1 case of skin vasculitis, were included. The relative frequencies of ulnar artery involvement were not significantly different between the SSc/SSc-overlap and non-SSc groups, respectively (n = 6, 60% vs. n = 9, 50%, p = 0.611). Conclusions Although ulnar artery involvement was frequently detected in patients with SSc/SSc-overlap, it was also a common finding in other CTDs; therefore, it is not specific to SSc or SSc-overlap diseases.

1995 ◽  
Vol 181 (3) ◽  
pp. 1027-1036 ◽  
Author(s):  
K N Kasturi ◽  
A Hatakeyama ◽  
H Spiera ◽  
C A Bona

Autoantibodies specific against fibrillarin, a 34-kD nucleolar protein associated with U3-snRNP, are present in patients with systemic sclerosis (SSc). To understand the mechanisms involved in the induction of these autoantibodies, we prepared a series of human fibrillarin recombinant proteins covering the entire molecule and analyzed their interaction with the autoantibodies present in various connective tissue diseases. Our results showed that antifibrillarin autoantibodies are present not only in SSc, as previously reported, but also in a variety of other connective tissue diseases. Patients with SSc (58%), mixed connective tissue diseases (60%), CREST syndrome (calcinosis, Raynaud phenomenon, esophageal dismotility, sclerodactyly, and telangiectasia syndrome) (58%), systemic lupus erythematosus (39%), rheumatoid arthritis (60%), and Sjogern's syndrome (84%) showed presence of antifibrillarin autoantibodies. Results obtained from competitive inhibition radioimmunoassay and Western blot analyses with purified recombinant fusion proteins revealed that these autoantibodies react primarily with epitope(s) present in the NH2- (AA 1-80) and COOH-terminal (AA 276-321) domains of fibrillarin. Autoantibodies reacting with internal regions of fibrillarin are less frequent. Analysis of the hydrophilicity profiles of reactive peptides showed presence of three potential antigenic sites in the NH2- and two in the COOH-terminal regions. While a hexapeptide sequence NH2 terminus of fibrillarin is shared with an Epstein-Barr virus-encoded nuclear antigen, the COOH-terminal region shares sequence homology with P40, the capsid protein encoded by herpes virus type 1. Interestingly, these two regions of fibrillarin also contain the most immunodominant sequences, as predicted by surface probability and the Jameson and Wolf antigenic index. These observations suggest that molecular mimicry might play an important role in the induction of antifibrillarin autoantibodies.


2017 ◽  
Vol 2017 ◽  
pp. 1-11 ◽  
Author(s):  
Rossella Talotta ◽  
Fabiola Atzeni ◽  
Maria Chiara Ditto ◽  
Maria Chiara Gerardi ◽  
Piercarlo Sarzi-Puttini

Objective. To provide a narrative review of the most recent data concerning the involvement of the microbiome in the pathogenesis of connective tissue diseases (CTDs) and vasculitides.Methods. The PubMed database was searched for articles using combinations of words or terms that included systemic lupus erythematosus, systemic sclerosis, autoimmune myositis, Sjögren’s syndrome, undifferentiated and mixed CTD, vasculitis, microbiota, microbiome, and dysbiosis. Papers from the reference lists of the articles and book chapters were reviewed, and relevant publications were identified. Abstracts and articles written in languages other than English were excluded.Results.We found some evidence that dysbiosis participates in the pathogenesis of systemic lupus erythematosus, systemic sclerosis, Sjögren’s syndrome, and Behçet’s disease, but there are still few data concerning the role of dysbiosis in other CTDs or vasculitides.Conclusions.Numerous studies suggest that alterations in human microbiota may be involved in the pathogenesis of inflammatory arthritides as a result of the aberrant activation of the innate and adaptive immune responses. Only a few studies have explored the involvement of dysbiosis in other CTDs or vasculitides, and further research is needed.


Author(s):  
Begonya Alcacer-Pitarch ◽  
Edward Vital ◽  
Maya Buch

This chapter will briefly cover the epidemiology and pathophysiology of systemic sclerosis and systemic lupus erythematosus, and, to a larger extent, their pathological effect on the lower limb. It will also discuss current evidence for foot pathology management with reference to potential risks and imaging strategies.


2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Alina Dima ◽  
Ioana Berza ◽  
Daniela Nicoleta Popescu ◽  
Magda Ileana Parvu

Abstract Nailfold capillaroscopy (NFC) is now one of the main imaging tools in systemic sclerosis and imposed over time as an easy, non-invasive method for the nailfold microvascular bed assessment. In qualitative NFC normal pattern is characterized by homogeneous, parallel fashion arrangement of the last capillaries row as well as by capillaries with hairpin or non-specific variations like tortuous and/ or crossing shape. Nailfold capillaroscopy is strongly recommended for evaluation of all patients with Raynaud phenomenon. Appearance of giant capillaries is chronologically the first finding relevant for scleroderma spectrum disorders development (systemic sclerosis, dermatomyositis, undifferentiated and mixed connective tissue disease). Collapses of the giant loops generate microhemorrhages and further capillary loss with subsequent hypoxia, and neoangiogenesis seen as ramified/ bushy capillaries. Nailfold capillaroscopy is indicated especially in systemic sclerosis, being also included in the classification criteria. Based on these major NFC pathologic findings (giant capillaries, microhemorrhages, avascularity and neoangiogenesis), three evolutive stages were described in systemic sclerosis, namely the early, active, and late scleroderma pattern. In other connective tissue diseases than those scleroderma-related, like systemic lupus erythematosus, psoriatic arthritis, or antiphospholipid syndrome, the interest for capillaroscopy is growing, but the attempts of defining specific characteristics failed until now. Besides qualitative NFC, semiquantitative and quantitative capillaroscopic assessments were proposed for more accurate evaluation. Lately, automated systems are under development. There is still need of more studies to sustain the nailfold capillaroscopy validity as diagnostic and prognostic test.


2017 ◽  
Vol 16 (2) ◽  
pp. 55-60
Author(s):  
Christopher P. Denton

Pulmonary hypertension (PH) is an important and relatively frequent complication of connective tissue disease (CTD). It is most often seen as a complication of systemic sclerosis and mixed CTD, but is also recognized in systemic lupus erythematosus and other related conditions. Although PH is defined hemodynamically by mean pulmonary arterial pressure (mPAP) of ≥25 mm Hg at right heart catheterization, and may have a variety of mechanisms, it is World Health Organization (WHO) Group 1 pulmonary arterial hypertension (PAH) that has deservedly received the most attention in CTD. The inclusion of cases of precapillary PH without other explanation or concurrent lung fibrosis in WHO Group 1 led to availability of licensed therapies and increased the need for screening and treatment. Approaches are now available that detect PAH, and optimal approaches to therapy are included in expert and evidence-based recommendations. Challenges include borderline elevation of mPAP, comorbidity, and mixed-etiology cases. Overall outcomes have improved, and new clinical trials are being performed that will hopefully build on recent progress to further improve outcomes. Other aspects of PH in CTD to consider include forms related to cardiac disease and lung fibrosis or hypoxia, as these may occur as complications of the underlying CTD. Thromboembolic disease may also occur and represents another important differential diagnosis. Finally, it has been reported that pulmonary veno-occlusive disease may occur, which raises diagnostic and treatment difficulties. Overall, there are major challenges in CTDPH, but also opportunities for effective multispecialty care and early detection and diagnosis of potentially treatable cases of PAH.


2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1598.2-1599
Author(s):  
I. Rusu ◽  
L. Muntean ◽  
M. M. Tamas ◽  
I. Felea ◽  
L. Damian ◽  
...  

Background:Interstitial lung disease (ILD) is a common manifestation of connective tissue diseases (CTDs), and is associated with significant morbidity and mortality. Chest high-resolution computed tomography (HRCT) play an important role in the diagnosis of ILD and may provide prognostic information.Objectives:We aimed to characterize the clinical profile and chest HRCT abnormalities and patterns of patients diagnosed with CTDs and ILD.Methods:In this retrospective, observational study we included 80 consecutive patients with CTDs and ILD referred to a tertiary rheumatology center between 2015 and 2019. From hospital charts we collected clinical data, immunologic profile, chest HRCT findings. HRCT patterns were defined according to new international recommendations.Results:Out of 80 patients, 64 (80%) were women, with a mean age of 55 years old. The most common CTD associated with ILD was systemic sclerosis (38.8%), followed by polymyositis (22.5%) and rheumatoid arthritis (18.8%). The majority of patients had dyspnea on exertion (71.3%), bibasilar inspiratory crackles were present in 56.3% patients and 10% had clubbing fingers. Antinuclear antibodies (ANA) were present in 78.8% patients, and the most frequently detected autoantibodies against extractable nuclear antigen were anti-Scl 70 (28.8%), followed by anti-SSA (anti-Ro, 17.5%), anti-Ro52 (11.3%) and anti-Jo (7.5%). Intravenous cyclophosphamide therapy for 6-12 months was used in 35% of patients, while 5% of patients were treated with mycophenolate mofetil.The most frequent HRCT abnormalities were reticular abnormalities and ground glass opacity. Non-specific interstitial pneumonia (NSIP) was identified in 46.3% CTDs patients. A pattern suggestive of usual interstitial pneumonia (UIP) was present in 32.5% patients, mainly in patients with systemic sclerosis. In 21.3% patients the HRCT showed reticulo-nodular pattern, micronodules and other abnormalities, not diagnostic for UIP or NSIP pattern.Conclusion:Nonspecific interstitial pneumonia (NSIP) is the most common HRCT pattern associated with CTDs. Further prospective longitudinal studies are needed in order to determine the clinical and prognostic significance of various HRCT patterns encountered in CTD-associated ILD and for better patient management.References:[1]Ohno Y, Koyama H, Yoshikaua T, Seki S. State-of-the-Art Imaging of the Lung for Connective Tissue Disease (CTD). Curr Rheumatol Rep. 2015;17(12):69.[2]Walsh SLF, Devaraj A, Enghelmeyer JI, Kishi K, Silva RS, Patel N, et al. Role of imaging in progressive-fibrosing interstitial lung diseases. Eur Respir Rev. 2018;27(150)Disclosure of Interests:None declared


2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 1432.2-1432
Author(s):  
B. Penev ◽  
G. Vasilev ◽  
D. Kyurkchiev ◽  
S. Monov

Background:Antinuclear antibodies (ANA) have been unequivocally recognized as essential for diagnosis and play both pathogenic and diagnostic roles in systemic lupus erythematosus (SLE). SLE and ANA have also been found to be more often among relatives of SLE patients. ANA and other immunological changes are known to appear prior to the clinical onset of the disease and thus can be used as predictors. Studies have reported that relatives of SLE patients who later transitioned to SLE displayed more lupus-associated autoantibody specificities and had early clinical signs. They also displayed elevated baseline plasma levels of inflammatory mediators, including B-lymphocyte stimulator (BLyS) and interferon-associated chemokines, with concurrent decreases in levels of regulatory mediators, e.g. tumor growth factor (TGF)-β. Commonly recognized risk factors for SLE are signs of past Epstein-Barr (EBV) infection, use of estrogen drugs and current smoking. It seems that ANA, immunologic changes and risk factors have not been investigated together in relatives of SLE patients.Objectives:The aim of the study was to determine the relative prevalence of clinical signs of SLE or connective tissue disease (CTD), smoking, use of estrogen drugs and levels of circulating ANA, BLyS, IFN-α, TGF-β, anti-EBV viral capsid antigen (VCA) IgM and IgG antibodies among sera of FDR, non-FDR healthy individuals and SLE patients.Methods:Forty three FDRs of SLE patients were studied along with 15 SLE patients and 15 clinically healthy subjects as control groups. The FDRs and the healthy answered a questionnaire about early clinical signs of CTD, smoking and estrogen use history. The questionnaire was developed based on the existing Screening Questionnaire for Connective Tissue Diseases and current knowledge of most early signs of CTD. Blood samples were obtained and tested for ANA, both by indirect immunofluorescence and immunoblot, anti-dsDNA by ELISA. ELISA was also performed to measure levels of BLys, IFN-α, TGF-β, anti-EBV IgM and IgG.Results:More than half of the FDRs displayed ANA in titer 1:160 or more, with predominately AC-4 type of fluorescence according to International Classification on ANA Patterns (ICAP) compared to only AC-1 and AC-0 among patients and controls respectively. A correlation between the ANA titer and the number of complaints was found. This was particularly valid or reported skin complaints and oral ulcers which appeared more frequently when ANA was 1:320 or above (p=0,018 and 0,038 respectively). Furthermore, oral ulcerations showed positive correlation with the presence of anti-Ro60. No associations were found in the healthy group between reported complaints and ANA titers. Smoking and estrogen use did not differ across the three groups. Patients showed significant differences in levels of BLys (p=0,027), TGF-β (p=0,019) and anti-EBV IgG (p=0.041) compared to both FDRs and controls. Without reaching statistical significance, levels of TGF-β tend to split the FDR group into “healthy-like” and “SLE-like”.Conclusion:Our results show that FDR ANA levels are between those of SLE patients and healthy subject groups. This is consistent with previous studies. The data also suggest that ANA positivity correlates with reported complaints, some of which could be interpreted as very early clinical signs of SLE. Of note, anti-Ro60 is known to be among the earliest ANA that appear in “future” SLE patients and in this study they are related to oral complaints that could be caused by early sicca phenomena. Immunologically, our data support previous findings [1] that the FDRs are a heterogenic group with different “lupus-developing” potential.References:[1]Munroe МE. et al, Soluble Mediators and Clinical Features Discern Risk of Transitioning to Classified Disease in Relatives of Systemic Lupus Erythematosus Patients, Arthritis Rheumatol. 2017 March; 69(3): 630–642.Disclosure of Interests:Bogdan Penev: None declared, Georgi Vasilev: None declared, Dobroslav Kyurkchiev: None declared, Simeon Monov Speakers bureau: I have been paid for giving lectures on statistical data on efficacy of many pharmaceutical products on various companies


Reumatismo ◽  
2021 ◽  
Vol 73 (3) ◽  
Author(s):  
R. El-Beheidy ◽  
A.M. Domouky ◽  
H. Zidan ◽  
Y.A. Amer

This study was aimed to evaluate serum KL-6 levels to determine if this marker can be used for diagnosing and assessing severity of interstitial lung disease (ILD) in children with connective tissue disorders. In total, 40 patients [18 patients with juvenile systemic lupus erythematosus (JSLE), 10 patients with juvenile idiopathic arthritis (JIA), 8 patients with juvenile mixed connective tissue disease (JMCTD), 3 patients with juvenile systemic sclerosis (JSSc), and 1 patient with juvenile dermatomyositis (JDM)] and 20 healthy controls were included in this study. Age, sex, and duration of CTD and ILD (if any) were recorded. Blood samples from all the patients and controls were examined by ELISA. 20 of the 40 patients with CTD (50%) had ILD, 12 were mild and 8 were severe as assessed by spirometry. The median serum KL-6 level was 102.7 U/mL (76.1-180.8) in the CTD with severe ILD group, 72.2 U/mL (58.4- 100.5) in the CTD with mild ILD group, 56.7 U/mL (35.8-68.5) in the CTD without ILD group, and 52.3 U/mL (32.8-62.4) in the control group. KL-6 levels were significantly higher in the CTD with ILD (p<0.05), at a cutoff of 63.4 U/ml identified by ROC curve, serum KL-6 showed a sensitivity of 95.2% and specificity of 89.7%. KL-6 is a valuable biomarker for diagnostic purposes and to detect severity in ILD in childhood CTD.


Author(s):  
Deepa Mala Subba ◽  
Nandakishore Thokchom ◽  
Linda Kongbam ◽  
Erika Salam ◽  
Deepa Yumnam

<p class="abstract"><strong>Background:</strong> Connective tissue diseases (CTDs) are a heterogeneous group of autoimmune disorders having overlapping clinical features. Skin is often involved and it may be the earliest sign of the disease. This study highlighted the various cutaneous manifestations of common CTDs.</p><p class="abstract"><strong>Methods:</strong> A hospital-based cross-sectional study was carried out for a period of two years in 83 patients with CTDs in dermatology OPD, RIMS, Imphal. Detailed history taking, examination and relevant serological tests were performed.<strong></strong></p><p class="abstract"><strong>Results:</strong> The mean age was 39.78±17.29 years with female to male ratio of 4.5:1. Majority of the patients had lupus erythematosus (LE) (N=45) followed by systemic sclerosis (SSc) (N=25), rheumatoid arthritis (RA) (N=6), mixed connective tissue disease (MCTD) (N=4) and morphea (N=3). The most common presentation was raised skin lesions (45.8%) followed by Raynaud’s phenomenon (36.1%), photosensitivity (27.7%), skin tightness (26.5%) and joint pain (19.3%). Among LE patients, chronic cutaneous lupus erythematosus (CCLE) was the commonest variant and localised discoid lupus erythematosus (DLE) (22.9%) was the commonest presentation followed by malar rash and annular subacute lupus erythematosus (SCLE). Skin induration, microstomia and sclerodactyly were seen in most patients of SSc. Antinuclear antibodies were positive in 89.1% of patients. Anti-dsDNA and anti-Sm antibodies were positive in 62.2% and 33.3% of LE patients, anti-Scl 70 antibody was positive in 68% of SSc patients.</p><p class="abstract"><strong>Conclusions:</strong> CTDs are rare but potentially life-threatening. Proper understanding of the spectrum of cutaneous manifestations of CTDs is therefore necessary for early diagnosis and efficient management.</p>


2021 ◽  
Vol 11 (Number 1) ◽  
pp. 60-65
Author(s):  
Abu Saleh Shimon ◽  
Mahjuba Umme Salam ◽  
Monharul Islam Bhuiyan ◽  
Mashuq Ahmad Jumma ◽  
Imran Hussain ◽  
...  

Mixed connective tissue disease is an entity of autoimmune disease with overlapping features of systemic lupus erythematosus, scleroderma, rheumatoid arthritis, dermatomyositis and with positive anti-U1 RNP antibody. We report here a 52 year old non-diabetic, normotensive woman presenting with new onset dysphagia for two months with variable features of multiple types of connective tissue diseases for two years. Clinical features and type specific serological tests for different connective tissue diseases showed puzzling results. However, finally a high titer of anti-U1RNP antibody led to the diagnosis of mixed connective tissue disease.


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