scholarly journals Why is a paediatric respiratory specialist integral to the paediatric rheumatology clinic?

Breathe ◽  
2020 ◽  
Vol 16 (4) ◽  
pp. 200212
Author(s):  
Manisha Ramphul ◽  
Kathy Gallagher ◽  
Kishore Warrier ◽  
Sumit Jagani ◽  
Jayesh Mahendra Bhatt
Keyword(s):  
Connective Tissue ◽  
Lupus Erythematosus ◽  
Connective Tissue Diseases ◽  
Treatment Strategies ◽  
Pulmonary Complications ◽  
High Morbidity ◽  
Rheumatology Clinic ◽  
Juvenile Systemic Sclerosis ◽  
Monitoring Treatment ◽  
Team Setting

Systemic connective tissue diseases (CTDs) are characterised by the presence of autoantibodies and multiorgan involvement. Although CTDs are rare in children, they are associated with pulmonary complications, which have a high morbidity and mortality rate. The exact pathophysiology remains unclear. The pleuropulmonary complications in CTD are diverse in their manifestations and are often complex to diagnose and manage.The most common CTDs are discussed. These include juvenile systemic lupus erythematosus, juvenile dermatomyositis, juvenile systemic sclerosis, Sjögren's syndrome and mixed connective tissue disease. We describe the clinical features of the pleuropulmonary complications, focusing on their screening, diagnosis and monitoring. Treatment strategies are also discussed, highlighting the factors and interventions that influence the outcome of lung disease in CTD and pulmonary complications of treatment.Early detection and prompt treatment in a multidisciplinary team setting, including respiratory and rheumatology paediatricians and radiologists, is paramount in achieving the best possible outcomes for these patients.

scholarly journals Serum KL-6 as predictive and prognostic marker of interstitial lung disease in childhood connective tissue diseases: a pilot study

Reumatismo ◽  
2021 ◽  
Vol 73 (3) ◽  
Author(s):  
R. El-Beheidy ◽  
A.M. Domouky ◽  
H. Zidan ◽  
Y.A. Amer
Keyword(s):  
Interstitial Lung Disease ◽  
Connective Tissue ◽  
Lung Disease ◽  
Lupus Erythematosus ◽  
Connective Tissue Diseases ◽  
Control Group ◽  
Connective Tissue Disorders ◽  
Juvenile Systemic Lupus Erythematosus ◽  
Median Serum ◽  
Juvenile Systemic Sclerosis

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.

scholarly journals Interstitial lung disease in mixed connective tissue disease

2018 ◽  
Vol 9 (1) ◽  
Author(s):  
Marshell Tendean ◽  
Sazkia Aziza Nuriawan ◽  
Pringgodigdo Nugroho
Keyword(s):  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Lupus Erythematosus ◽  
Mixed Connective Tissue Disease ◽  
Connective Tissue Diseases ◽  
Severe Pneumonia ◽  
Interstitial Lung Diseases ◽  
Pulmonary Complications ◽  
Initial Symptoms ◽  
Screening And Prevention

Interstitial lung diseases (ILD) are known as a debilitating pulmonary complications that may be occured in almost all systemic connective tissue diseases (CTD), including mixed connective tissue disease (MCTD). ILD is usually found in more than half of MCTD patients after 2-4years after the diagnosis made. A-47-years-old female initially diagnosed as systemic lupus erythematosus (SLE) developed a severe progressive dyspnea. She has recently diagnosed as MCTD with ILD after 9 months of initial symptoms. She was giving with Cyclophosphamide 500 mg IV pulse dose. However, after 1 months she developed severe pneumonia andpronounced demise due to intractable septic shock. The debilitating course of ILD is commonly seen in most systemic CTD. Therefore, it is important to perform initial screening and prevention. Systemic corticosteroid with or without immunosupressor agent(s) are indicated inILD-MCTD. Patients with progressive diseases will have poor prognosis.Keywords : ILD, MCTD, Corticosteroid

scholarly journals Therapeutic Options for the Treatment of Interstitial Lung Disease Related to Connective Tissue Diseases. A Narrative Review

2020 ◽  
Vol 9 (2) ◽  
pp. 407 ◽  
Author(s):  
Caterina Vacchi ◽  
Marco Sebastiani ◽  
Giulia Cassone ◽  
Stefania Cerri ◽  
Giovanni Della Casa ◽  
...  
Keyword(s):  
Interstitial Lung Disease ◽  
Connective Tissue ◽  
Lung Disease ◽  
Connective Tissue Disease ◽  
Lupus Erythematosus ◽  
Therapeutic Option ◽  
Inflammatory Myopathy ◽  
Connective Tissue Diseases ◽  
Immunosuppressive Drugs ◽  
Pulmonary Complications

Interstitial lung disease (ILD) is one of the most serious pulmonary complications of connective tissue diseases (CTDs) and it is characterized by a deep impact on morbidity and mortality. Due to the poor knowledge of CTD-ILD’s natural history and due to the difficulties related to design of randomized control trials, there is a lack of prospective data about the prevalence, follow-up, and therapeutic efficacy. For these reasons, the choice of therapy for CTD-ILD is currently very challenging and still largely based on experts’ opinion. Treatment is often based on steroids and conventional immunosuppressive drugs, but the recent publication of the encouraging results of the INBUILD trial has highlighted a possible effective and safe use of antifibrotic drugs as a new therapeutic option for these subjects. Aim of this review is to summarize the available data and recent advances about therapeutic strategies for ILD in the context of various CTD, such as systemic sclerosis, idiopathic inflammatory myopathy and Sjogren syndrome, systemic lupus erythematosus, mixed connective tissue disease and undifferentiated connective tissue disease, and interstitial pneumonia with autoimmune features, focusing also on ongoing clinical trials.

scholarly journals AB0815 FIRST DEGREE RELATIVES OF PATIENTS WITH SYSTEMIC LUPUS ERYTHEMATOSUS - CLINICAL, SEROLOGICAL AND IMMUNOLOGICAL CORRELATIONS

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 1432.2-1432
Author(s):  
B. Penev ◽  
G. Vasilev ◽  
D. Kyurkchiev ◽  
S. Monov
Keyword(s):  
Risk Factors ◽  
Systemic Lupus Erythematosus ◽  
Connective Tissue ◽  
Lupus Erythematosus ◽  
Current Knowledge ◽  
Statistical Significance ◽  
Clinical Signs ◽  
Connective Tissue Diseases ◽  
Pharmaceutical Products ◽  
Systemic Lupus

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

scholarly journals Clinical profile of cutaneous manifestations of connective tissue diseases in North-East India

2021 ◽  
Vol 7 (5) ◽  
pp. 702
Author(s):  
Deepa Mala Subba ◽  
Nandakishore Thokchom ◽  
Linda Kongbam ◽  
Erika Salam ◽  
Deepa Yumnam
Keyword(s):  
Connective Tissue ◽  
Lupus Erythematosus ◽  
Cutaneous Lupus Erythematosus ◽  
Connective Tissue Diseases ◽  
Skin Lesions ◽  
Discoid Lupus Erythematosus ◽  
Serological Tests ◽  
Cross Sectional ◽  
Cutaneous Manifestations ◽  
North East

<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>

Mixed Connective Tissue Disease- Physician’s Dilemma: A case report

2021 ◽  
Vol 11 (Number 1) ◽  
pp. 60-65
Author(s):  
Abu Saleh Shimon ◽  
Mahjuba Umme Salam ◽  
Monharul Islam Bhuiyan ◽  
Mashuq Ahmad Jumma ◽  
Imran Hussain ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Lupus Erythematosus ◽  
Mixed Connective Tissue Disease ◽  
High Titer ◽  
Connective Tissue Diseases ◽  
Systemic Lupus ◽  
Serological Tests ◽  
Normotensive Woman ◽  
New Onset

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.

Connective tissue diseases

2020 ◽  
pp. 127-184
Keyword(s):  
Connective Tissue ◽  
Lupus Erythematosus ◽  
Granulomatosis With Polyangiitis ◽  
Connective Tissue Diseases ◽  
Antineutrophil Cytoplasmic Antibody ◽  
Assessment Tools ◽  
Eosinophilic Granulomatosis With Polyangiitis ◽  
Key Points ◽  
Strauss Syndrome ◽  
Eosinophilic Granulomatosis

This chapter covers the connective tissue diseases including systemic lupus erythematosus, Sjögren’s syndrome, scleroderma, antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (including granulomatosis with polyangiitis (formerly known as Wegener’s granulomatosis), eosinophilic granulomatosis with polyangiitis (formerly known as Churg–Strauss syndrome), and microscopic polyangiitis), polyarteritis nodosa, and Behçet’s disease. For each example of a connective tissue disease it provides an overview of the condition and classification criteria, alongside the prognosis. Techniques and tricks for diagnosis, clinical features, assessment tools, and treatment are all covered. Key points of nursing care are described, including the nurse’s role in treatment with thalidomide and cyclophosphamide, and any particular organs that can be affected is detailed.

scholarly journals The Serum Cell-Free microRNA Expression Profile in MCTD, SLE, SSc, and RA Patients

2020 ◽  
Vol 9 (1) ◽  
pp. 161 ◽  
Author(s):  
Barbara Stypinska ◽  
Anna Wajda ◽  
Ewa Walczuk ◽  
Marzena Olesinska ◽  
Aleksandra Lewandowska ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Signaling Pathway ◽  
Expression Profile ◽  
Mirna Expression ◽  
Lupus Erythematosus ◽  
Connective Tissue Diseases ◽  
Mirna Expression Profile ◽  
Expression Level ◽  
Control Group ◽  
Mirna Expression Level

Mixed connective tissue disease (MCTD) is a rare disorder characterized by symptoms that overlap two or more Autoimmune Connective Tissue Diseases (ACTDs). The aim of this study was to determine whether miRNAs participating in the TLRs signaling pathway could serve as biomarkers differentiating MCTD or other ACTD entities from a healthy control group and between groups of patients. Although the selected miRNA expression level was not significantly different between MCTD and control, we observed that miR-126 distinguishes MCTD patients from all other ACTD groups. The expression level of miRNAs was significantly higher in the serum of systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) patients compared to controls. The miR-145 and -181a levels distinguished RA from other ACDT patients. miR-155 was specific for SLE patients. MiR-132, miR-143, and miR-29a distinguished RA and SLE patients from the systemic sclerosis (SSc) group. Additionally, some clinical parameters were significantly related to the miRNA expression profile in the SLE group. SLE and RA are characterized by a specific serum expression profile of the microRNAs associated with the Toll-like receptors (TLRs) signaling pathway. The analysis showed that their level distinguishes these groups from the control and from other ACTD patients. The present study did not reveal a good biomarker for MCTD patients.

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