Entzündliche Muskelerkrankungen: Polymyositis, Dermatomyositis, Overlap-Syndrome, Mixed Connective Tissue Disease

1983 ◽  
pp. 309-325 ◽  
Author(s):  
F. Jerusalem
Keyword(s):  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Mixed Connective Tissue Disease ◽  
Overlap Syndrome

Mixed Connective Tissue Disease in Childhood

1986 ◽  
Vol 7 (10) ◽  
pp. 309-314
Author(s):  
Bernhard H. Singsen
Keyword(s):  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Rheumatic Diseases ◽  
Mixed Connective Tissue Disease ◽  
Overlap Syndrome ◽  
Point Of View ◽  
Nuclear Antigen ◽  
Extractable Nuclear Antigen ◽  
First Child ◽  
One Year

Rheumatic diseases with overlapping clinical features have been known since at least 1900 under such descriptive designations as "sclerodermatomyositis," "lupoderma," "rupus," and others. These hybrid descriptors recognize the occasional mixing of features of the classic rheumatic disorders, rheumatoid arthritis, scleroderma, dermatomyositis, and systemic lupus erythematous (SLE), in the same patient. However, because of the absence of precise pathogenetic and etiologic information, even the traditional rheumatic diseases have been largely classified on the basis of aggregations of clinical, histologic, and immunologic findings. In 1972, Sharp and colleagues first described 26 adults with a new syndrome, which they defined as mixed connective tissue disease (MCTD). A major contribution of Sharp and his colleagues was to name and attempt to classify an overlap syndrome in explicit clinical terms and to associate it with specific autoantibodies directed against "extractable nuclear antigen" (ENA). One year later, the first child with MCTD was reported, and in 1977 a series of 14 children with MCTD was first investigated. Where does mixed connective tissue disease, in both children and adults, stand now after more than a decade of study? Directly, the concept of MCTD has focused our attention upon the description of overlapping features of the rheumatic diseases, and it has forced us to confront whether "lumping" or "splitting" descriptors serves the patient from a therapeutic or prognostic point of view.

scholarly journals Tocilizumab in the treatment of mixed connective tissue disease and overlap syndrome in children

RMD Open ◽  
2016 ◽  
Vol 2 (2) ◽  
pp. e000271 ◽  
Author(s):  
Natalia Cabrera ◽  
Agnes Duquesne ◽  
Marine Desjonquères ◽  
Jean-Paul Larbre ◽  
Jean-Christophe Lega ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Mixed Connective Tissue Disease ◽  
Overlap Syndrome

scholarly journals Mixed connective tissue disease, undifferentiated connective tissue disease and overlap syndromes

2019 ◽  
Vol 47 (5) ◽  
pp. 435-444
Author(s):  
R. T. Alekperov
Keyword(s):  
Connective Tissue ◽  
Diagnostic Criteria ◽  
Connective Tissue Disease ◽  
Mixed Connective Tissue Disease ◽  
Clinical Symptoms ◽  
Early Stage ◽  
Clinical Signs ◽  
Connective Tissue Diseases ◽  
Overlap Syndrome ◽  
Undifferentiated Connective Tissue Disease

Systemic lupus erythematosus, systemic sclerosis, inflammatory myopathy and rheumatoid arthritis are systemic connective tissue disorders which are characterized by heterogeneous clinical symptoms and variable course. To date, updated diagnostic criteria for early diagnosis of each of the diseases of this group have been proposed. At the same time, a proportion of patients already have at the onset of the disease or over time, a combination of signs characteristic of different diseases. Such conditions are referred to as mixed connective tissue disease, undifferentiated connective tissue disease or overlap-syndrome, whose nosological identity remains the subject of discussion. Formerly there has been a kind of terminological confusion and similar conditions were described under different names, depending on the author's preferences. It was also believed that these conditions were an early stage or a clinically "incomplete" form of a connective tissue disease. However, as the observations of large patient groups have shown, whose disease was represented by a number of individual signs of several connective tissue diseases, the clinical manifestation remains unchanged for many years in the majority of them. To recognize the right for nosological independence, one should account for the fact that only for a mixed connective tissue disease various authors and research groups have proposed four variants of diagnostic criteria. These criteria have small differences in the number of clinical signs; however, all criteria include a mandatory sign, i.e. the presence of antibodies to U1-ribonucleoprotein in high titers. Clinical signs common to all these diagnostic criteria include the Raynaud's syndrome, arthritis, myositis and finger swelling or sclerodactyly. Another patient category includes those with mono- or oligosymptomatic manifestations characteristic of systemic connective tissue diseases, but without any specific immunological markers. Some of these patients in a fairly short time, usually from several months to 1–2 years, develop other clinical symptoms and signs corresponding to a reliable diagnosis of a connective tissue disease. At the same time, a significant part of patients with the oligosymptomatic course demonstrate a long-term stability without any further evolution of the disease. Such cases are defined as an undifferentiated connective tissue disease. To avoid the erroneous diagnosis of the transient form or an early stage of any connective tissue disease, the proposed classification criteria, along with the inclusion criteria, also embrace clinical and serological exclusion criteria. A separate category consists of patients with a combination of clinical signs sufficient for a definitive diagnosis of at least two systemic connective tissue diseases. These patients are diagnosed with the overlap-syndrome with indication of the components of connective tissue diseases in each individual case, as it largely determines the individual treatment and prognosis. The possibility of such clinical variants of systemic connective tissue diseases is becoming increasingly justified due to the concept of polyautoimmunity, which has attracted great interest of researchers in the last few years.

scholarly journals AB0593 DOES REALLY EXIST MIXED CONNECTIVE TISSUE DISEASE?

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1593.1-1593
Author(s):  
L. Montolio-Chiva ◽  
J. Narváez ◽  
M. Pascual ◽  
H. S. Park ◽  
A. V. Orenes Vera ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Lupus Erythematosus ◽  
Mixed Connective Tissue Disease ◽  
Overlap Syndrome ◽  
Average Score ◽  
Systemic Autoimmune Disease ◽  
Independent Entity

Background:Currently, most authors accept that mixed connective tissue disease (MCTD) is an independent entity, although there are those who argue that it is actually an overlap syndrome or an undifferentiated early phase of another systemic autoimmune disease (SAD).Objectives:To analyze the long term evolution of a serie of patients with MCTD.Methods:Observational, retrospective and multicenter study in patients with MCTD (diagnostic criteria of Alarcón-Segovia et al),followed for a minimun of 2 years.Results:Fifty-five patients (49 women) with a median age at diagnosis of 38±14 years and with a follow up time (median) of 101 months (range, 24-237 months with a total of 501.2 pacients-year) were identified.At the end of the follow-up period, only 27% (15/55) of the patients kept on fulfilling MCTD criteria. In the remaining 73% (40), 40% (22) had been differentiated to systemic lupus erythematosus (SLE), 13% (7) to systemic sclerosis (SSc) and 20% (11) developed an overlap syndrome [SSc+SLE in 8 cases and SSc+rheumatoid arthritis (AR) in 3]. In 8% of these patients, a secondary Sjögren’s syndrome was diagnosed during the follow-up period. The average score in patients who met the EULAR/ACR 2013 criteria for SSc was 11 (minimum 9 - maximum 16) and the average time elapsed from the diagnosis of MCTD to meet SSc criteria was 64.4 months (interquartile range [IQR] 25-75%: 10-127 months).Applying the 2012 SLICC criteria, only 24 patients of those initially diagnosed as MCTD ended up meeting SLE criteria. The average score in these patients was 5.6 (4-9) and the average time elapsed from the diagnosis of MCTD unltil fulfilling the SLICC criteria was 39 months (IQR 25-75%: 6-28). When we apply the new ACR/EULAR 2019 criteria, the percentage of patients who meet SLE criteria increased to 30%, with an average score of 17.3 (10-38). The average time elapsed since the diagnosis of MCTD until meeting the new SLE criteria was reduced to 17 months (IQR 25-75: 0-10).In the multivariate study, the presence of sclerodactyly (OR: 2.91; IC 95% 1.90 - 4.1, p= 0.001) and esophageal involvement (OR: 2.05; IC 95% 1.14–3.66, p=0.016) were associated with the evolution to SSc. Any predictor of evolution to SLE was identified.Conclusion:Only slightly more than a quarter of patients initially diagnosed as MCTD maintain this diagnosis during the follow-up. The majority, ended up evolving towards to another SAD, fundamentally SLE and SSc. The new ACR/EULAR 2019 criteria seems to be more sensitive than the SLICC 2012 criteria for diagnose SLE in these patients.Disclosure of Interests:L Montolio-Chiva: None declared, J. Narváez: None declared, Maria Pascual: None declared, Hye Sang Park: None declared, Ana V Orenes Vera: None declared, Eduardo Flores: None declared, Juanjo J Alegre-Sancho Consultant of: UCB, Roche, Sanofi, Boehringer, Celltrion, Paid instructor for: GSK, Speakers bureau: MSD, GSK, Lilly, Sanofi, Roche, UCB, Actelion, Pfizer, Abbvie, Novartis, Iván Castellví: None declared, Joan Miquel Nolla: None declared

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