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

Long term follow-up of children with mixed connective tissue disease

Lupus ◽  
1996 ◽  
Vol 5 (3) ◽  
pp. 221-226 ◽  
Author(s):  
R. Mier ◽  
B. Ansell ◽  
MA Hall ◽  
N. Hasson ◽  
J. Levinson ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Mixed Connective Tissue Disease ◽  
Long Term Follow Up

SAT0190 Long-Term Follow-Up of 280 Patients with Mixed Connective Tissue Disease

2013 ◽  
Vol 72 (Suppl 3) ◽  
pp. A645.2-A645
Author(s):  
A. Hajas ◽  
P. Szodoray ◽  
B. Nakken ◽  
G. Nagy ◽  
Z. Szekanecz ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Mixed Connective Tissue Disease ◽  
Long Term Follow Up

Undifferentiated connective tissue disease

2009 ◽  
Vol 150 (19) ◽  
pp. 867-872 ◽  
Author(s):  
Edit Bodolay ◽  
Gyula Szegedi
Keyword(s):  
Autoimmune Disease ◽  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Lupus Erythematosus ◽  
Clinical Symptoms ◽  
Dynamic State ◽  
Systemic Autoimmune Disease ◽  
Undifferentiated Connective Tissue Disease ◽  
Systemic Lupus

Evolution of immunopathological diseases is usually slow and progressive. Non-differentiated collagen disease (NDC) or the term “undifferentiated connective tissue disease” (UCTD) represents a stage of disease where clinical symptoms and serological abnormalities suggest autoimmune disease, but they are not sufficient to fulfill the diagnostic criteria of any well-established connective tissue disease (CTD) such as systemic lupus erythematosus (SLE), Sjögren’s syndrome, mixed connective tissue disease (MCTD), systemic sclerosis (SSc), polymyositis/ dermatomyositis (PM/DM) or rheumatoid arthritis (RA). 30–40 percent of patients presenting undifferentiated profile develops and reaches the stage of a well defined systemic autoimmune disease during five years follow up, while 60 percent remains in an undifferentiated stage.In the stage of NDC, immunoregulatory abnormalities and endothelial dysfunction are present. In conclusion, NDC represents a dynamic state, and it is important to recognize the possibility of a progression to a definite systemic autoimmune disease.

scholarly journals A Case of Subacute Cutaneous Lupus Erythematosus in a Patient with Mixed Connective Tissue Disease: Successful Treatment with Plasmapheresis and Rituximab

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
M. Fantò ◽  
S. Salemi ◽  
F. Socciarelli ◽  
A. Bartolazzi ◽  
G. A. Natale ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Lupus Erythematosus ◽  
Mixed Connective Tissue Disease ◽  
High Titer ◽  
Cutaneous Lupus Erythematosus ◽  
Subacute Cutaneous Lupus Erythematosus ◽  
Anti Cd20 ◽  
Skin Healing ◽  
Cutaneous Lupus

A 30-year-old woman affected by Mixed Connective Tissue Disease with scleroderma spectrum developed a facial eruption, a clinical and histological characteristic of subacute cutaneous lupus erythematosus (SCLE). Speckled anti-nuclear antibodies, high-titer anti-ribonucleoprotein1, anti-Sm, anti-Cardiolipin (aCL) IgG/IgM, and anti-Ro/SSA antibodies were positive. SCLE was resistant to Azathioprine, Hydroxychloroquine, and Methotrexate while Mycophenolate Mofetil was suspended due to side effects. Subsequently, the patient was treated with three cycles of therapeutic plasma exchange (TPE) followed, one month after the last TPE, by the anti-CD20 antibody Rituximab (RTX) (375 mg/m2weekly for 4 weeks). Eight and 16 months later the patient received other two TPE and RTX cycles, respectively. This therapeutic approach has allowed to obtain a complete skin healing persistent even after 8-month follow-up. Moreover, mitigation of Raynaud's phenomenon, resolution of alopecia, and a decline of aCL IgG/IgM and anti-Ro/SSA antibodies were observed.

scholarly journals AB0411 CHALLENGES IN THE MANAGEMENT OF MIXED CONNECTIVE TISSUE DISEASE: A RETROSPECTIVE ANALYSIS OF THE MCTD COHORT IN A TERTIARY REFERRAL CENTRE

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 1233.3-1234
Author(s):  
A. Wanzenried ◽  
A. Garaiman ◽  
S. Jordan ◽  
O. Distler ◽  
B. Maurer
Keyword(s):  
Connective Tissue ◽  
International Symposium ◽  
Diagnostic Criteria ◽  
Connective Tissue Disease ◽  
Lupus Erythematosus ◽  
Mixed Connective Tissue Disease ◽  
Activity Index ◽  
Referral Centre ◽  
Tertiary Referral Centre

Background:As a rare, complex, and heterogeneous disease, mixed connective tissue disease (MCTD) represents a challenge for clinical practice.Objectives:We aimed to unravel potential pitfalls including correct referral diagnosis, fulfilment of diagnostic criteria, distinction from other CTDs, disease course and activity, and treatment modalities.Methods:We analysed the prospectively collected MCTD cohort at our tertiary referral centre. The patients’ medical histories were investigated for fulfilment of Sharp’s (1), Kasukawa’s (2), and Alarcón-Segovia’s (3) diagnostic MCTD criteria. We defined overlap syndromes as simultaneous fulfilment of clinical as well as immunological criteria of two defined rheumatic diseases. Disease conversion was defined as emergence of new symptoms and autoantibodies consistent with another rheumatic disease. Remission was defined by simultaneous systemic lupus erythematosus disease activity index 2000 (SLEDAI-2 K) of 0 and European League Against Rheumatism scleroderma trial and research (EUSTAR) activity index <2.5. Disease phenotype and disease activity were monitored over time and all patients were evaluated for fulfilment of classification criteria of various connective tissue diseases.Results:Out of 85 patients initially referred as MCTD, only one third fulfilled the diagnostic MCTD criteria. Most of the remaining patients had undifferentiated CTD (29%) or overlap syndromes (20%). In our final cohort of 33 MCTD patients, 6 (48%) also met the classification criteria of systemic sclerosis, 13 (39%) those of systemic lupus erythematosus (SLE), 6 (18%) those of rheumatoid arthritis, and 3 (9%) those of primary myositis. Over the median observation period of 4.6 (1.6, 9.9) years, only two patients (6%) underwent disease conversion from MCTD to SLE and no patient converted towards other diseases. The number of patients in remission increased from 6 (18%) to 15 (45%) due to introduction of immune modulatory treatment. Combination therapy was favoured in most cases (17 patients, 52%), whereas monotherapy was less frequent (12 patients, 36%), and only 4 (12%) patients remained without immune modulators until the end of the follow-up period. Hydroxychloroquine, prednisone, and methotrexate were the most frequently used medications in our cohort.Conclusion:Our study showed a high risk for misdiagnosis for patients with MCTD. Phenotype conversion was a very rare event. As a multi-organ disease, MCTD required prolonged (combined) immunosuppressive therapy to achieve remission. The establishment of an international registry with longitudinal data from observational multi-centre cohorts might represent a first step to address the many unmet needs of MCTD.References:[1]Sharp GC. Diagnostic criteria for classification of MCTD. In: Kasukawa R, Sharp GC, editors. Mixed connective tissue disease and anti-nuclear antibodies: proceedings of the International Symposium on Mixed Connective Tissue Disease and Anti-nuclear Antibodies, Tokyo, 29-30 August 1986. no. 719. Amsterdam: Elsevier Science Publishers B.V. (Biomedical Division); 1987. p. 23-30.[2]Kasukawa R, Tojo T, Miyawaki S, Yoshida H, Tanimoto K, Nobunaga M, et al. Preliminary diagnostic criteria for classification of mixed connective tissue disease. In: Kasukawa R, Sharp GC, editors. Mixed connective tissue disease and anti-nuclear antibodies: proceedings of the International Symposium on Mixed Connective Tissue Disease and Anti-nuclear Antibodies, Tokyo, 29-30 August 1986. no. 719. Amsterdam: Elsevier Science Publishers B.V. (Biomedical Division); 1987. p. 41-7.[3]Alarcón-Segovia D, Villarreal M. Classification and diagnostic criteria for mixed connective tissue disease. In: Kasukawa R, Sharp GC, editors. Mixed connective tissue disease and anti-nuclear antibodies: proceedings of the International Symposium on Mixed Connective Tissue Disease and Anti-nuclear Antibodies, Tokyo, 29-30 August 1986. no. 719. Amsterdam: Elsevier Science Publishers B.V. (Biomedical Division); 1987. p. 33-40.Disclosure of Interests:Adrian Wanzenried: None declared, Alexandru Garaiman: None declared, Suzana Jordan: None declared, Oliver Distler Consultant of: O.D. had consultancy relationship and/or has received research funding from Abbvie, Actelion, Acceleron Pharma, Amgen, AnaMar, Baecon Discovery, Blade Therapeutics, Bayer, Boehringer Ingelheim, Catenion, Competitive Drug Development International Ltd, CSL Behring, ChemomAb, Curzion Pharmaceuticals, Ergonex, Ga-lapagos NV, Glenmark Pharmaceuticals, GSK, Inventiva, Italfarmaco, iQone, iQvia, Lilly, medac, Medscape, Mitsubishi Tanabe Pharma, MSD, Novartis, Pfizer, Roche, Sanofi, Target Bio Science and UCB in the area of potential treatments of scleroderma and its complications., Britta Maurer Consultant of: Boehringer-Ingelheim, Grant/research support from: AbbVie, Protagen, and Novartis Biomedical Research as well as congress support from Pfizer, Roche, Actelion, mepha, and MSD.

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