Mixed Connective Tissue Disease (MCTD)

A syndrome with overlapping clinical features of systemic lupus erythematosus, scleroderma, polymyositis, and Raynaud's phenomenon. The disease is differentially characterized by high serum titers of antibodies to ribonuclease-sensitive extractable (saline soluble) nuclear antigen and a "speckled" epidermal nuclear staining pattern on direct immunofluorescence.

Also Known As:

Networked: 1007 relevant articles (33 outcomes, 65 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Mixed Connective Tissue Disease (MCTD)
2.	Systemic Lupus Erythematosus (Libman-Sacks Disease)
3.	Interstitial Lung Diseases (Interstitial Lung Disease)
4.	Systemic Scleroderma (Systemic Sclerosis)
5.	Glomerulonephritis

Experts

1.	Bodolay, Edit: 13 articles (10/2014 - 02/2002)
2.	Szegedi, Gyula: 12 articles (10/2014 - 02/2002)
3.	Bodolay, E: 8 articles (09/2014 - 09/2003)
4.	Paradowska-Gorycka, Agnieszka: 7 articles (11/2021 - 01/2015)
5.	Gunnarsson, Ragnar: 7 articles (12/2017 - 06/2011)
6.	Ihn, H: 7 articles (07/2005 - 02/2000)
7.	Molberg, Øyvind: 6 articles (12/2017 - 07/2013)
8.	Szegedi, G: 6 articles (07/2013 - 07/2004)
9.	Zeher, Margit: 6 articles (05/2011 - 11/2005)
10.	Hoffman, Robert W: 6 articles (09/2008 - 03/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Mixed Connective Tissue Disease:

1.	Adrenal Cortex Hormones (Corticosteroids)IBA 05/01/1982 - "Corticosteroid induced remission of oesophageal involvement in mixed connective tissue disease." 01/01/1999 - "The course was also chronic and rather benign, as in MCTD, and all cases responded to low or moderate doses of corticosteroids. " 01/01/1999 - "Initial observations of MCTD suggested infrequent renal disease, a good response to corticosteroids and favourable prognosis. " 01/01/1996 - "Pulmonary involvement in mixed connective tissue disease has been considered to be relatively benign and easily treated with corticosteroids. " 10/01/1992 - "It seems clear that the original description of MCTD as a mild disorder, rarely affecting the lungs or kidneys and requiring small doses of corticosteroids only, is no longer tenable. "
2.	Cyclophosphamide (Cytoxan)FDA LinkGeneric 07/01/2006 - "PAH associated with SLE or MCTD might respond to a treatment combining glucocorticosteroids and cyclophosphamide." 06/02/2016 - "In this report, we describe a 15-year-old Iranian boy who was diagnosed with mixed connective tissue disease, and cyclophosphamide pulse therapy was administered. " 04/01/2001 - "A case of mixed connective tissue disease with cystic pancreatitis: successful treatment by cyclophosphamide." 01/01/1999 - "Myocarditis of mixed connective tissue disease: favourable outcome after intravenous pulsed cyclophosphamide." 06/02/2016 - "As the patient developed posterior reversible encephalopathy syndrome 3 days after cyclophosphamide pulse therapy to reduce the disease activity, it is hard to accurately determine whether posterior reversible encephalopathy syndrome in this case is a complication of cyclophosphamide or a condition that resulted from the mixed connective tissue disease flare-up."
3.	SteroidsIBA 01/01/2014 - "She had a history of mixed connective-tissue disease and had been taking steroids for 20 years. " 01/01/2021 - "We report our case to highlight the association between collapsing glomerulopathy and MCTD and the potential role of steroids as first-line therapy in such cases." 06/01/2006 - "Features of her TN, along with those of the 6 previously reported patients with TN and MCTD such as bilaterality and response to steroid therapy, suggest that the TN in MCTD differs from the idiopathic form of the disease. " 01/01/2018 - "Identifying MCTD is critical, especially in patients requiring steroids that may worsen systemic HTN and heart failure. " 01/01/2017 - "In 1972, Sharp et al. described a new autoimmune rheumatic disease that they called MCTD, characterized by overlapping features of SSc, SLE, PM/DM, high levels of anti-U1snRNP and low steroid requirements with good prognosis. "
4.	AntibodiesIBA 01/01/1995 - "The detection of the anti ENA antibodies was specially helpful in diagnosing patients with systemic lupus erythematosis presenting with atypical features and with mixed connective tissue disease." 11/01/2019 - "In this study we aimed to investigate foetal and maternal pregnancy outcomes from a large multicentre cohort of women diagnosed with MCTD and anti-U1RNP antibodies. " 12/01/1992 - "This study suggests that antibodies against the p67 RNP are markers for clinical features of MCTD even in the context of SLE." 06/20/2023 - "In SLE, anti-U1-RNP antibodies are associated with a clinical phenotype that resembles MCTD, with hematologic involvement and less damage accrual. " 06/20/2023 - "In conclusion, anti-RNP70 antibodies are not exclusive to MCTD but are rarely detected in pSS and healthy individuals. "
5.	Antineutrophil Cytoplasmic Antibodies (ANCA)IBA 03/18/2019 - "The authors report a case of ANCA-negative CrGN associated with a MCTD." 01/01/2011 - "Mixed connective tissue disease developing into MPO-ANCA-positive polyangiitis." 01/01/2006 - "Mixed connective tissue disease associated with MPO-ANCA-positive polyangiitis." 08/01/2000 - "We believe this is the first case in which MPO-ANCA-related nGN was demonstrated in a patient with MCTD." 08/01/2000 - "Here we report a case which developed MPO-ANCA-related nGN 16 years after the diagnosis of MCTD. "
6.	Intravenous Immunoglobulins (IVIG)FDA Link 05/01/2022 - "Here, we describe a case associated with mixed connective tissue disease and effectively treated with intravenous immunoglobulin." 05/01/2022 - "Efficacy of intravenous immunoglobulin in shrinking lung syndrome associated with mixed connective tissue disease: a case report." 01/01/2002 - "Efficacy of pulsed intravenous immunoglobulin therapy in mixed connective tissue disease." 05/01/2018 - "Intravenous Immunoglobulin for Mixed Connective Tissue Disease Presenting With Bilateral Trigeminal Neuropathy." 09/01/2003 - "Fasciitis in mixed connective tissue disease successfully treated with high-dose intravenous immunoglobulin."
7.	Prednisolone (Predate)FDA LinkGeneric 10/01/2012 - "PLGE associated with both MCTD and SjS was diagnosed, but she was successfully treated by prednisolone." 01/01/2012 - "A 69-year-old woman, who had been diagnosed as having Sjögren's syndrome at 37 years old and mixed connective tissue disease at 42 years old, was under treatment with oral prednisolone. " 01/01/2011 - "In 2003, a 64-year-old woman was diagnosed with mixed connective tissue disease and treated with oral prednisolone (30 mg/day). " 01/01/2006 - "The patient was a 42-year-old woman diagnosed as having MCTD and Sjögren's syndrome in 1989, and who was taking oral prednisolone. " 11/01/2001 - "Continuing prednisolone may be useful in pregnant women, and aggressive treatment to prevent mixed connective tissue disease exacerbation may be appropriate during pregnancy."
8.	Immunosuppressive Agents (Immunosuppressants)IBA 10/01/2023 - "Several case series have shown the beneficial effect of immunosuppressive agents in patients with SLE-PH and MCTD-PH." 01/01/2019 - "Her past medical history included mixed connective tissue disease for which she is on systemic immunosuppressants. " 01/01/2017 - "This case suggested the potential benefit of immunosuppressants in patients with severe MCTD-associated PAH." 08/01/2008 - "Our patient, a 64-year-old woman with MCTD and rapidly progressive pulmonary fibrosis, presented with rapid deterioration despite treatment with immunosuppressants. " 11/02/2023 - "Therapeutic management of PH depends of the underlying mechanism(s): PAH-approved therapies in group 1 PH (with possible use of immunosuppressants, especially in case of SLE or MCTD); management of an underlying left-heart disease in group 2 PH; management of an underlying chronic lung disease in group 3 PH; anticoagulation, pulmonary endartectomy, PAH-approved therapies and/or balloon pulmonary angioplasty in group 4 PH. Regular follow-up is mandatory in all CTD-PH patients."
9.	Cyclosporine (Ciclosporin)FDA LinkGeneric 06/01/2000 - "Patients who had received cyclosporin for SLE, mixed connective tissue disease, and other overlap syndromes were identified. " 01/01/1999 - "Low-dose cyclosporin for multiple colonic ulcers associated with mixed connective tissue disease." 05/01/2003 - "The addition of vincristine in one patient and vincristine and cyclosporine in the second (with mixed connective tissue disease) led to complete remission. " 12/01/2002 - "Abstract To determine the efficacy of cyclosporin A (CysA) for the treatment of steroid-resistant interstitial pneumonitis (IP), we enrolled 25 patients with various rheumatic diseases and steroid-resistant IP in a pilot study [4 patients with rheumatoid arthritis (RA), 2 with systemic lupus erythematosus (SLE), 11 with polymyositis/dermatomyositis (PM/DM), 4 with systemic sclerosis (SSc), 1 with mixed connective tissue disease (MCTD), 3 with Sjögren syndrome (SS)]. " 01/01/2014 - "Multiple methods for case finding were used to ensure complete ascertainment: (a) patients with problem SLE, undifferentiated autoimmune disease or mixed connective tissue disease in the Computer-based Patient Record System, (b) patients with positive antinuclear antibody test, anti-Sm antibodies and/or anti-dsDNA antibodies in the laboratory database and (c) patients who consumed hydroxichloroquine, chloroquine, azathioprine, cyclophosphamide, mycophenolate, cyclosporine or rituximab, from the administrative HIMCP drugs database. "
10.	AutoantibodiesIBA 02/01/1985 - "In this study we used 21 sera from patients with SLE or MCTD for a quantitative analysis of their specific autoantibody content. " 01/01/2021 - "He was also found to have a positive autoantibody, and he was later diagnosed with MCTD complicated by scleroderma renal crisis. " 11/21/2019 - "We also found that anti-U1-A autoantibodies most frequently occurred in MCTD patients with rs2069718 GA genotype, while the IFN-G rs2069705 AG and rs2069718 GA genotypes might be a marker of anti-Ro60 presence in MCTD patients. " 01/01/2016 - "Ro52 and Ro60) and anti-SSB autoantibodies as markers for disease outcomes in MCTD. " 09/01/2014 - "Five years after the diagnosis of MCTD high concentrations of anticardiolipin (anti-CL) and anti-β2-glycoprotein (anti-β2GPI) autoantibodies were present in the patient's serum without thrombotic events. "

Therapies and Procedures

1.	Therapeutics 08/01/1998 - "In comparison, the control group had a significantly greater (P < 0.05) median MCTD (1020 mL), median allogeneic blood product exposure (4.5 U), and incidence of excessive MCTD (66%) and transfusion therapy (66%). " 11/01/2022 - "As a multi-organ disease, MCTD required prolonged immunomodulating therapy to achieve remission. " 09/10/2006 - "[Pathophysiology of and therapy for mixed connective tissue disease: recent progress on the study]." 11/01/2022 - "Management of MCTD required immunomodulating combination therapy in most cases (15/28, 54%), whereas monotherapy was less frequent (10/28, 36%), and only a few (3/28, 11%) remained without immune modulators until the end of the follow-up period. " 03/01/2012 - "A 25-year-old woman with MCTD, complicated with PH and APS, who was scheduled for gonadotoxic therapy Controlled ovarian hyperstimulation, egg retrieval, embryo banking. "
2.	Ketogenic Diet 01/01/2018 - "We aim to identify the global metabolic perturbations associated with consumption of a ketogenic diet (medium-chain TAG diet (MCTD)) in dogs with idiopathic epilepsy. " 11/14/2015 - "In conclusion, the data show antiepileptic properties associated with ketogenic diets and provide evidence for the efficacy of the MCTD used in this study as a therapeutic option for epilepsy treatment." 11/01/2008 - "The medium-chain triglyceride diet (MCTD) is a variant of the classic 4:1 ketogenic diet (KD) introduced in 1971 by Huttenlocher as an attempt to improve the palatability of the KD by allowing more carbohydrates yet preserving ketosis. "
3.	Drug Therapy (Chemotherapy) 07/01/2004 - "Two patients had systemic chemotherapy (1 metastatic colon cancer and 1 mixed connective tissue disease). " 08/01/1992 - "Temporary remission of scleroderma during the successful treatment of an associated malignant lymphoma by chemotherapy is reported in a patient with systemic sclerosis and mixed connective tissue disease. " 06/01/1996 - "Two patients with nasopharyngeal carcinoma complicated by collagen diseases (dermatomyositis in one, and Sjögren's syndrome with mixed connective tissue disease in the other) were given radiotherapy combined with chemotherapy consisting of cis-platinum and 5-fluorouracil. "
4.	Thyroidectomy 01/01/1991 - "Clinical and biological improvement of mixed connective tissue disease after total thyroidectomy]." 08/06/2015 - "We theorize that: 1) MCTD may have been a primary diagnosis complicated by PTC, or 2) MCTD may have been an initial presentation of paraneoplastic syndrome of silent PTC, because her symptoms of MCTD significantly improved after total thyroidectomy. "
5.	Aftercare (After-Treatment) 05/01/1990 - "Studies in 10 patients before and after treatment suggested that esophageal dysfunction in mixed connective tissue disease may be responsive to corticosteroids. " 01/01/2012 - "Epstein-Barr virus-negative, CD5-positive diffuse large B-cell lymphoma developing after treatment with oral tacrolimus for mixed connective tissue disease : a case report and review of the literature."