scholarly journals A clinical case of long-term differential diagnosis of a disseminated process in the lungs as a manifestation of mixed connective tissue disease

2020 ◽  
Vol 43 (4) ◽  
pp. 509-521
Author(s):  
Elina N. Solovyova ◽  
◽  
Tatyana Yu. Kalyuta ◽  
Oleg A. Kazhekin ◽  
Nadezhda A. Glukhova ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Lupus Erythematosus ◽  
Clinical Case ◽  
Connective Tissue Diseases ◽  
Lung Damage ◽  
Common Causes ◽  
Long Time

Connective tissue diseases (CTD) are common causes of disseminated small – focal lung damage. The complexity of diagnostic approach in such cases occur due to intolerance of many symptoms and syndromes, that can also relate to diseases of other different etiologies. It is often not possible to identify the pathognomonic syndrome in CTD, as well as to establish an accurate diagnosis after a long time. This complicates the selection of effective treatment and, accordingly, the inability to predict the course and development of the disease. Sometimes, due to the intersection of symptoms, the diagnosis sounds like «MCTD» (mixed connective tissue diseases) – a rare systemic connective tissue disease, characterized by a combination of individual signs of systemic lupus erythematosus, systemic scleroderma, rheumatoid arthritis, polymyositis. This publication presents a clinical case of a long-term course of mixed MCTD in a patient who has been observed for more than 10 years in different hospitals, and by outpatient observation, and within this year’s differential diagnosis with other CTD and infectious diseases was held, including rheumatic fever.

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.

Pulmonary arterial hypertension associated with connective tissue disease

ESC CardioMed ◽  
2018 ◽  
pp. 2531-2534
Author(s):  
Christopher P. Denton
Keyword(s):  
Pulmonary Arterial Hypertension ◽  
Connective Tissue ◽  
Arterial Hypertension ◽  
Connective Tissue Disease ◽  
Lupus Erythematosus ◽  
Heart Catheterization ◽  
Pulmonary Arterial ◽  
Detection And Diagnosis ◽  
Health Organization

Connective tissue disease-associated pulmonary arterial hypertension (PAH) falls within World Health Organization group 1. These patients are treated as others in this group, but there are important considerations regarding detection and diagnosis. Patients with connective tissue disease are at risk of PAH and should be screened with confirmation of diagnosis by right heart catheterization. Treatment follows the European Society of Cardiology guidelines for other forms of PAH. However, more information is available for systemic sclerosis PAH regarding screening, including the DETECT algorithm, and also in terms of long-term outcome of patients with borderline elevation of mean pulmonary arterial pressure. In cases of systemic lupus erythematosus or mixed connective tissue disease, immunosuppression should be given in conjunction with targeted PAH-specific therapy. Long-term outcomes for PAH in patients with connective tissue disease have improved since targeted specific therapies became available. Recent trials with morbidity–mortality endpoints and a high proportion of patients receiving combination treatment have shown comparable benefits for patients with connective tissue disease and PAH as for those with idiopathic PAH in contrast to the blunted response that was characteristic of earlier short-term studies assessing improvement in 6 min walk test distance.

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.

scholarly journals Evolution of Mixed Connective Tissue Disease in 7 Years Old Child: Clinical Case

2020 ◽  
Vol 19 (3) ◽  
pp. 214-219
Author(s):  
Tamara P. Makarova ◽  
Khakim M. Vakhitov ◽  
Dina R. Sabirova ◽  
Dinara I. Sadykova ◽  
Liliya R. Khusnutdinova ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Lupus Erythematosus ◽  
Mixed Connective Tissue Disease ◽  
Clinical Case ◽  
Clinical Signs ◽  
Systemic Scleroderma ◽  
Systemic Diseases ◽  
Autoimmune Pathology ◽  
Short Period

Background. Mixed connective tissue disease (Sharp syndrome) is the rare chronic autoimmune pathology combining various features of systemic lupus erythematosus, systemic scleroderma, rheumatoid arthritis, dermatomyositis and high antibody titer to nuclear ribonucleoprotein. The mixed connective tissue disease may evolve into other systemic diseases over time. Description of any cases of mixed connective tissue disease and its evolution in Russian patients has not been published previously.Clinical Case Description. The results of observations of the child with clinical and immunological signs of the mixed connective tissue disease followed by the progression of systemic scleroderma symptoms and development of Sjogren's syndrome in the short period of time are presented in the article. Improvement (such as pain attenuation, increase in volume of movements in affected joints, decrease of Raynaud syndrome manifestations duration) was observed on treatment (methotrexate 10 mg/week with subsequent addition of prednisolone 0.75 mg/kg/day).Conclusion. Timely diagnostics of clinical signs of the systemic diseases debut is crucial for correct patient routing and for achieving of disease improvement.

scholarly journals Diffuse Calcifications of the Spleen in a Woman with Systemic Lupus Erythematosus

2015 ◽  
Vol 2015 ◽  
pp. 1-3 ◽  
Author(s):  
Aristeides G. Vaiopoulos ◽  
Meletios A. Kanakis ◽  
Kyriaki Katsouri ◽  
Stavroula Kyriazi ◽  
George A. Vaiopoulos ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Differential Diagnosis ◽  
Autoimmune Disease ◽  
Connective Tissue ◽  
Lupus Erythematosus ◽  
Spontaneous Rupture ◽  
Connective Tissue Diseases ◽  
Systemic Lupus ◽  
Unique Pattern ◽  
Splenic Involvement

Systemic lupus erythematosus (SLE) is a multisystemic autoimmune disease, which affects a wide variety of organs including the spleen. Splenic involvement in SLE includes conditions such as splenomegaly, hyposplenism, infarction, and spontaneous rupture. However, only a few cases of splenic calcifications in patients with SLE have been reported. Herein, we present a case of a 24-year-old female diagnosed with SLE, in which we found diffuse splenic calcifications. The unique pattern of splenic calcifications in SLE contributes to the differential diagnosis from other conditions such as infections and other connective tissue diseases, which also cause calcifications in the spleen.

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 The prevalence and incidence of mixed connective tissue disease: a national multicentre survey of Norwegian patients

2011 ◽  
Vol 70 (6) ◽  
pp. 1047-1051 ◽  
Author(s):  
Ragnar Gunnarsson ◽  
Øyvind Molberg ◽  
Inge-Margrethe Gilboe ◽  
Jan Tore Gran ◽  
Keyword(s):  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Lupus Erythematosus ◽  
Mixed Connective Tissue Disease ◽  
Connective Tissue Diseases ◽  
Antibody Test ◽  
Adult Onset ◽  
Cross Sectional ◽  
Immune Mediated ◽  
Systemic Disorder

ObjectivesMixed connective tissue disease (MCTD) is an immune-mediated, systemic disorder of unknown aetiology. As the epidemiology of the disease is largely unknown, the authors performed a nationwide cross-sectional retrospective study to assess the prevalence and incidence of MCTD in Norway.MethodsEvery adult patient (≥18 years) with MCTD seen at one of the departments of rheumatology was reviewed for inclusion. Only patients who satisfied the following four criteria were included: clinical diagnosis of MCTD verified by a rheumatologist; positive serum anti-ribonucleoprotein antibody test; fulfilment of at least one of three of following criteria sets: the modified Sharp's criteria, the criteria of Alarcón-Segovia and Villareal and those of Kasukawa; and exclusion of other connective tissue diseases.ResultsThe four inclusion criteria were fulfilled by 147 adult Caucasian patients. The female to male ratio was 3.3 and the mean age at diagnosis of adult-onset MCTD was 37.9 years (95% CI 35.3 to 40.4 years). At the end of 2008, the point prevalence of living adult MCTD patients in Norway was 3.8 (95% CI 3.2 to 4.4) per 100 000 adults. The incidence of adult-onset MCTD in Norway during the period from 1996 to 2005 was 2.1 (95% CI 1.7 to 2.5) per million per year.ConclusionsMCTD has a female predominance and the incidence and prevalence of MCTD is low, and lower than reported figures for polymyositis, dermatomyositis, systemic sclerosis and systemic lupus erythematosus. The prevalence estimates were similar across the three criteria sets of MCTD.

Abnormal Nailfold Capillaroscopy Is Common in Patients with Connective Tissue Disease and Associated with Abnormal Pulmonary Function Tests

2018 ◽  
Vol 46 (9) ◽  
pp. 1109-1116 ◽  
Author(s):  
Anniek M. van Roon ◽  
Cato C. Huisman ◽  
Arie M. van Roon ◽  
Dan Zhang ◽  
Alja J. Stel ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Pulmonary Function ◽  
Connective Tissue Disease ◽  
Lupus Erythematosus ◽  
Pulmonary Function Tests ◽  
Connective Tissue Diseases ◽  
Definite Diagnosis ◽  
Predictive Values ◽  
Function Tests ◽  
Abnormal Pulmonary Function

Objective.To assess the presence of a systemic sclerosis (SSc) pattern on nailfold capillary microscopy (NCM) in patients with Raynaud phenomenon (RP) and to explore its association with abnormal pulmonary function tests (PFT).Methods.NCM patterns were assessed in 759 consecutive patients with RP. Patterns were classified as normal (n = 354), nonspecific (n = 159), or SSc pattern (n = 246). Abnormal PFT was defined as forced vital or diffusion capacity < 70%. Patients were classified as primary RP (n = 245), or secondary: no definite diagnosis (n = 391), SSc (n = 40), primary Sjögren syndrome (pSS; n = 30), systemic lupus erythematosus (SLE; n = 30), mixed connective tissue disease (MCTD; n = 7), rheumatoid arthritis (RA; n = 15).Results.An SSc pattern on NCM was frequently observed in most patients with a definite diagnosis: SSc (88%), pSS (33%), SLE (17%), MCTD (71%), and RA (13%). In patients without definite diagnosis, 17% had a normal NCM pattern, 35% nonspecific, and 48% SSc pattern. Abnormal PFT was more frequent in patients with an SSc pattern (35.9% vs 19.5%, p = 0.002), even when corrected for SSc diagnosis (p = 0.003). Absence of an SSc pattern had high negative predictive value (88%); positive predictive values were low.Conclusion.SSc pattern on NCM is common in patients with RP, and in those with connective tissue diseases other than SSc. It is associated with a higher prevalence of abnormal PFT, independent of the presence of an SSc diagnosis. Although these data need validation in a prospective setting, they underline the importance of NCM in RP and putative value to stratify the risk of pulmonary involvement in early stages of disease.

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