scholarly journals Pulmonary Hypertension Associated With Scleroderma and Connective Tissue Disease: Potential Molecular and Cellular Targets

2017 ◽  
Vol 16 (2) ◽  
pp. 61-67
Author(s):  
Maria Trojanowska
Keyword(s):  
Pulmonary Hypertension ◽  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Lupus Erythematosus ◽  
Molecular Mechanisms ◽  
Critical Role ◽  
Connective Tissue Diseases ◽  
Clinical Manifestations ◽  
Response To Treatment ◽  
Organ Systems

Systemic sclerosis (SSc) is characterized by autoimmunity, small-vessel vasculopathy, and fibrosis causing damage in multiple organ systems. Pulmonary arterial hypertension (PAH) is a serious and often fatal complication of SSc, occurring in patients with the limited (lcSSc) and diffuse (dcSSc) forms of the disease and affecting 8% to 15% of patients.12 While pulmonary hypertension associated with connective tissue disease (CTD-PAH) has similar clinical features as idiopathic PAH, 1-year survival and freedom from hospitalization are lower in CTD-PAH.3 SSc-PAH has the worst 1-year survival rate at 82% compared with other connective tissue diseases, including systemic lupus erythematosus, mixed connective tissue disease, and rheumatoid arthritis.34 Despite the recent progress in the development of disease-targeted therapies, patients with SSc-PAH have a poorer response to treatment and a worse prognosis than other subgroups of PAH.1 Autoimmunity and prolonged vasculopathy preceding the development of clinical manifestations of SSc-PAH may play a critical role in the poorer outcome of SSc-PAH patients.1 This article will provide an overview of the recent findings related to cellular and molecular mechanisms associated with the development of PAH, with an emphasis on SSc-PAH.

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.

Overlap/undifferentiated syndromes

2013 ◽  
pp. 1069-1078 ◽  
Author(s):  
Ariane Herrick
Keyword(s):  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Clinical Features ◽  
Lupus Erythematosus ◽  
Raynaud’S Phenomenon ◽  
Clinical Manifestations ◽  
Raynaud's Phenomenon ◽  
Overlap Syndromes ◽  
Clear Cut ◽  
Positive Treatment

Undifferentiated connective tissue disease (UCTD) and overlap syndromes both form part of the broad spectrum of connective tissue disease. They are difficult to define, as the boundaries between them and specific diseases such as systemic lupus erythematosus (SLE), systemic sclerosis (SSc), and myositis are often not clear-cut. This chapter gives a broad overview of diagnosis, clinical features, outcomes, and management. Patients with UCTD have clinical and/or serological features of connective tissue disease but do not fulfil the criteria for any one defined disease. Raynaud’s phenomenon and puffy fingers are often the presenting features but there are many possible others, including arthralgia, sicca symptoms, and breathlessness due to pulmonary fibrosis, usually in the context of a positive anti-nuclear antibody (ANA). A proportion of patients evolve into a defined connective tissue disease: in those who do, this is generally within 5 years of onset. Treatment is dependent upon the clinical features: for examplem vasodilators for Raynaud’s phenomenon, or hydroxychloroquine for arthralgia/arthritis. Patients with overlap syndromes have features of more than one defined connective tissue disease. Overlap syndromes are therefore highly heterogeneous as many combinations of clinical and serological features can occur. Mixed connective tissue disease (MCTD) is the overlap syndrome that has been most described and includes overlapping features of SLE, SSc, and myositis in patients who are anti-U1 ribonucleoprotein (RNP) antibody positive. Treatment is of the specific clinical manifestations. Patients with overlap syndromes should be kept under regular review to allow early identification of internal organ involvement.

scholarly journals Clinical and Immunological Profile of Mixed Connective Tissue Disease and a Comparison of Four Diagnostic Criteria

2020 ◽  
Vol 2020 ◽  
pp. 1-6 ◽  
Author(s):  
Kevin John John ◽  
Mohammad Sadiq ◽  
Tina George ◽  
Karthik Gunasekaran ◽  
Nirmal Francis ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Diagnostic Criteria ◽  
Connective Tissue Disease ◽  
Lupus Erythematosus ◽  
Mixed Connective Tissue Disease ◽  
Cross Sectional Study ◽  
Cross Sectional ◽  
Immunological Profile ◽  
Immune Mediated ◽  
Organ Systems

Mixed connective tissue disease (MCTD) was initially described as a chronic immune-mediated disease with overlapping features of systemic lupus erythematosus, scleroderma, and polymyositis. We conducted a cross-sectional study to describe the clinical and immunological profile of patients with MCTD and to compare the four diagnostic criteria, namely, Sharp, Kasukawa, Alarcón-Segovia, and Khan criteria. A total of 291 patients who were admitted from June 2007 to June 2017 and fulfilled the inclusion criteria were included in the study. A clinical diagnosis of MCTD was made in 111 patients, of whom 103 (92.8%) were women. The mean age at presentation was 39.3 years (SD±11.6). The most common organ systems that were involved were musculoskeletal system (95.5%), skin and mucosa (78.4%), and the gastrointestinal and hepatobiliary systems (56%). The maximum sensitivity was for the Kasukawa criteria with a sensitivity of 77.5% (95% CI 68.4-84.6) and specificity of 92.2% (95% CI 87-95.5). The Kahn criteria and Alarcón-Segovia criteria had the maximum specificity; the Alarcón-Segovia criteria had a sensitivity of 69.4% (95% CI 59.8-77.6) and a specificity of 99.4% (95% CI 96.5-99.9), while the Kahn criteria had a sensitivity of 52.3% (95% CI 42.6-61.7) and a specificity of 99.4% (95% CI 96.5-99.9). The sensitivity and specificity of Sharp criteria were 57.7% (95% CI 47.9-66.87) and 90% (95% CI 84.4-93.8), respectively.

Overlap/undifferentiated syndromes

2013 ◽  
pp. 1069-1078
Author(s):  
Ariane Herrick ◽  
Michael Hughes
Keyword(s):  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Clinical Features ◽  
Lupus Erythematosus ◽  
Raynaud’S Phenomenon ◽  
Clinical Manifestations ◽  
Raynaud's Phenomenon ◽  
Overlap Syndromes ◽  
Clear Cut ◽  
Positive Treatment

Undifferentiated connective tissue disease (UCTD) and overlap syndromes both form part of the broad spectrum of connective tissue disease. They are difficult to define, as the boundaries between them and specific diseases such as systemic lupus erythematosus (SLE), systemic sclerosis (SSc), and myositis are often not clear-cut. This chapter gives a broad overview of diagnosis, clinical features, outcomes, and management. Patients with UCTD have clinical and/or serological features of connective tissue disease but do not fulfil the criteria for any one defined disease. Raynaud’s phenomenon and puffy fingers are often the presenting features but there are many possible others, including arthralgia, sicca symptoms, and breathlessness due to pulmonary fibrosis, usually in the context of a positive anti-nuclear antibody (ANA). A proportion of patients evolve into a defined connective tissue disease: in those who do, this is generally within 5 years of onset. Treatment is dependent upon the clinical features: for example vasodilators for Raynaud’s phenomenon, or hydroxychloroquine for arthralgia/arthritis. Patients with overlap syndromes have features of more than one defined connective tissue disease. Overlap syndromes are therefore highly heterogeneous as many combinations of clinical and serological features can occur. Mixed connective tissue disease (MCTD) is the overlap syndrome that has been most described and includes overlapping features of SLE, SSc, and myositis in patients who are anti-U1 ribonucleoprotein (RNP) antibody positive. Treatment is of the specific clinical manifestations. Patients with overlap syndromes should be kept under regular review to allow early identification of internal organ involvement.

scholarly journals POS0755 PREVALENCE AND RELEVANCE OF ANTIBODIES AGAINST CITRULLINATED ALPHA ENOLASE (ANTI-CEP1) IN CONNECTIVE TISSUE DISEASES

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 630.1-630
Author(s):  
A. Alunno ◽  
O. Bistoni ◽  
F. Carubbi ◽  
M. Antonucci ◽  
S. Calvacchi ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Lupus Erythematosus ◽  
Bone Erosion ◽  
Disease Onset ◽  
Connective Tissue Diseases ◽  
Clinical Manifestations ◽  
Igg Antibodies ◽  
Serum Samples ◽  
Healthy Donors

Background:Anti-citrullinated alpha enolase antibodies have been investigated in rheumatoid arthritis and associated with bone erosion and interstitial lung disease but little is known about their prevalence and role in connective tissue diseases (CTDs).Objectives:The aim of this study was to investigate the prevalence and relevance of anti-CEP1 antibodies in CTDs.Methods:Serum samples from five independent patient cohorts were assessed: 1) established (est) primary Sjogren’s syndrome (pSS) N=78, 2) est-systemic lupus erythematosus (SLE) N=52, 3) est-systemic sclerosis (SSc) N=71, 4) pSS at disease onset N=30, 5) SLE at disease onset N=46 (cohorts 4 and 5 had at least 3 years of follow-up). Samples from ninety sex and age matched healthy donors (HD) and 200 patients with est-RA (disease controls) were also tested. Anti-CEP1 IgG antibodies were measured with a commercially available ELISA kit (Euroimmun, Luebeck, Germany).Results:Anti-CEP1 titer was significantly higher in est-pSS, est-SLE and est-SSc compared to HD, significantly lower in est-pSS and est-SSc compared to est-RA and comparable in est-SLE versus est-RA. We divided patients in every CTD group based on whether their anti-CEP1 titer was below or above the 25th, 50th and 75th percentile. In est-SLE anti-CEP1 values over the 25th percentile were associated with articular involvement (odds ratio, OR (95% confidence interval, CI)=11.5; 1.9-70.6, p=0.008). In est-pSS, no relationship between anti-CEP1>25th percentile and articular involvement was found but rather an association with rheumatoid factor positivity (OR (95% CI)=4.8, 1.6-14.1, p=0.004) and salivary gland swelling (OR (95% CI)=6.2, 1.3-29.1, p=0.021). In est-SSc no difference could be detected across the 3 groups. Anti-CEP-1 titers in pSS and SLE at onset did not differ from each other, were comparable also to those of HD and significantly lower than those of est-pSS, est-SLE and est-RA patients (all p<0.0001).). Of interest, we could retrieve a serum sample collected at the time of diagnosis for 5 patients from the cohort of established pSS and we observed that anti-CEP1 titers were significantly lower at pSS onset than during follow up (at least 12 months after the diagnosis, p=0.0024). No difference was observed in the clinical presentation at disease onset according to different anti-CEP1 titer and they did not predict the development of new clinical manifestations during follow-up.Conclusion:Anti-CEP-1 antibodies can be detected in CTDs at different title during the disease course and may increase overtime, at least in pSS. Although anti-CEP1 antibodies are associated with specific clinical manifestation in est-CTDs, such as articular involvement in est-SLE, they seem to lack a predictive value for future manifestations when measured at disease onset.References:[1]Alunno A, Bistoni O, Pratesi F et al Rheumatology (Oxford) 2018.[2]Manca ML, Alunno A, D’Amato C et al. Joint Bone Spine 2018.Disclosure of Interests:None declared

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

Neuropsychological assessment in mixed connective tissue disease: comparison with systemic lupus erythematosus

Lupus ◽  
2012 ◽  
Vol 21 (9) ◽  
pp. 927-933 ◽  
Author(s):  
K Nowicka-Sauer ◽  
Z Czuszyńska ◽  
M Majkowicz ◽  
Ż Smoleńska ◽  
K Jarmoszewicz ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Lupus Erythematosus ◽  
Mixed Connective Tissue Disease ◽  
Connective Tissue Diseases ◽  
Depression Scale ◽  
Structured Interview ◽  
Systemic Lupus ◽  
Neuropsychiatric Manifestations

Objective: The aims of the study were to assess cognitive functions (CF) in patients with mixed connective tissue disease (MCTD) and to compare MCTD patients with systemic lupus erythematosus patients with and without neuropsychiatric manifestations (NP-SLE and non-NP-SLE, respectively) in terms of CF. Methods: Neuropsychological examination was performed in 141 patients: 30 with MCTD (24 women, 6 men), mean age: 48.07 years, 37 with non-NP-SLE (36 women, 1 man), mean age: 40.76 years and 74 with NP-SLE (68 women, 6 men), mean age: 41.97 years. Neuropsychological tests and structured interview were used. Emotional state was assessed by Hospital Anxiety and Depression Scale and clinical review. Results: We observed cognitive impairment in six MCTD patients (20%); in one (3%) the impairment was severe. MCTD patients achieved significantly higher results in seven out of 11 tests compared with patients with NP-SLE. MCTD and non-NP-SLE patients did not differ significantly. The differences were irrespective of premorbid IQ, education, disease duration and steroid treatment. Conclusions: In the majority of MCTD patients, CF were not impaired and severe impairment was unusual. Cognitive functioning was most disturbed in NP-SLE. The cognitive deficits observed in connective tissue diseases can be connected with nervous system involvement.

scholarly journals Functional state of peripheral and microcirculatory blood flow in patients with pulmonary hypertension on the background of systemic connective tissue diseases

2019 ◽  
Vol 18 (4) ◽  
pp. 11-18
Author(s):  
E. V. Dolgova ◽  
A. A. Fedorovich ◽  
T. V. Martynyuk ◽  
A. N. Rogoza ◽  
I. Ye. Chazova
Keyword(s):  
Blood Flow ◽  
Pulmonary Hypertension ◽  
Connective Tissue ◽  
Functional State ◽  
Lupus Erythematosus ◽  
Connective Tissue Diseases ◽  
Functional Class ◽  
Control Group ◽  
Microcirculatory Blood Flow ◽  
Doppler Flowmetry

Aim. To study the functional state of peripheral and microcirculatory blood flow in patients with pulmonary hypertension associated with systemic connective tissue diseases (PH-SCTD).Material and methods. The study included 22 patients (50,1±14,7) with PH-SCTD I–III functional class. 18 patients had systemic scleroderma, 3 – systemic lupus erythematosus, and 1 patient suffered from rheumatoid arthritis. The control group (CG) comprised 25 healthy volunteers (39,3±10). The studies were performed using finger photoplethysmography (FPG), laser Doppler flowmetry (LDF), and capillaroscopy (CS).Results. According to the FPG data, patients with PH-SCTD relative to CG have lower values of occlusion index in the amplitude of 1,51±0,37 and 2,28±0,46 respectively (<0.05). According to LDF data, signs of venular plethora are observed in patients with PH-SCTD, which is manifested by an increase in the amplitude of respiratory-induced fluctuations in blood flow to 0,17±0,11 (PU) versus 0,13±0,07 (PU) in CG (<0.05), an increase in the constrictor reaction in the cold test was 56,4±16,8 % and 42,1±17,9 % (<0.05) and a venous occlusion test was 56,8±18,7 % and 45,2±17,9 % (<0.05), respectively. According to CS data, patients with PH-SCTD have a noticeable increase in the degree of hydration of the interstitial space, which manifests itself in an increase in the size of the pericapillary space to 160,8±37,3 μm against 114,1±17,4 μm in the CG (<0.00001).Conclusions. In patients with PH-SCTD, all regulatory mechanisms and structural components of microvessels, including endothelial and smooth muscle cells, are involved in the pathological process, which is manifested by an increase in the constrictor activity for all types of stimuli and a violation of the filtration-reabsorption mechanism of metabolism.

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