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Mixed Connective Tissue Disease (MCTD)

Author: Shelley Ensz. Scleroderma is highly variable. See Types of Scleroderma. Read Disclaimer
Overview
Symptoms
MCTD and Scleroderma

Overview

Mixed Connective Tissue Disease is an overlap of clinical features of systemic lupus erythematosus, systemic sclerosis, and polymyositis, along with very high ribonucleoprotein autoantibodies, but without antibodies for other specific autoimmune diseases. (Also see: Lupus, Systemic Sclerosis, Polymyositis, and Antibodies)
Mixed Connective Tissue Disease consists of the following core clinical and laboratory features: Raynaud phenomenon, swollen hands, arthritis/arthralgia, acrosclerosis, esophageal dysmotility, myositis, pulmonary hypertension, high level of anti–U1-RNP antibodies, and antibodies against U1-70 kd small nuclear ribonucleoprotein (snRNP). Medscape.
The human leukocyte antigen (HLA) profiles of mixed connective tissue disease (MCTD) differ distinctly from the profiles of clinically related connective tissue diseases. Novel HLA alleles associated with MCTD and disease subsets were identified and DRB1*04:01 was confirmed as a major risk allele. Altogether, the data reinforce the notion of MCTD as a disease entity distinct from lupus, scleroderma and polymyositis. PubMed, Rheumatology, 2014 Sep 3.

Symptoms

Sensorineural hearing loss as a common manifestation in patients with mixed connective tissue disease. Raynaud's phenomenon, antiphospholipid and antiendothelial cell antibodies, increased serum levels of proinflammatory cytokines and a reduced number of regulatory T cells were found to be associated with sensorineural hearing loss in mixed connective tissue disease patients. International Journal of Clinical Rheumatology, [2010]. (Also see: Autoimmune Ear Disease)
(Case Report) Mixed connective tissue disease presenting as a peculiar myositis with poor muscle regeneration. Mixed connective tissue disease (MCTD) is a rheumatological disease which has to be distinguished from other entities causing inflammatory myopathy. Springerlink, Neurological Sciences, [2010]. (Also see: Myopathy)
Digital (Finger) Ulcer from Mixed Connective Tissue Disease (MCTD). This digital ulcer is 14 weeks old. It was caused by secondary Raynaud's phenomenon, in a patient with Mixed Connective Tissue Disease (MCTD). The MCTD was diagnosed 5 years ago, after thyroid gland removal. ISN Photo Repository, contributed by Jeanne N.

MCTD and Systemic Sclerosis (Scleroderma)

Connective tissue diseases: systemic sclerosis: beyond limited and diffuse subsets? A new study now proposes that patients with systemic sclerosis and overlapping features of another connective tissue disease might form a distinct disease subset. PubMed, Nat Rev Rheumatol, 2014 Apr;10(4):200-2.
Performance of the 2013 ACR/EULAR Classification Criteria for Systemic Sclerosis (SSc) in Large, Well-defined Cohorts of SSc and Mixed Connective Tissue Disease (MCTD). The 2013 ACR/EULAR SSc criteria were more sensitive than the ACR 1980 criteria. However, the new criteria did not completely segregate SSc from MCTD, making specificity a potential issue. PubMed, J Rheumatol, 2014 Oct 1. (Also see: What is Scleroderma?)
MCTD May Be Subset of Systemic Scleroderma. Many patients with mixed connective tissue disease may represent a subset of systemic scleroderma, rather than a disease involving overlapping connective tissue disorders as is commonly believed, or a subset of lupus as some have suggested over the years, Dr. Virginia Steen said at the Congress of Clinical Rheumatology. Rheumatology News. 06/05/12. (Also see: What is Scleroderma? and Dr. Virginia Steen)
(Case Report) Scleroderma renal crisis in a newly diagnosed mixed connective tissue disease (MCTD) resulting in dialysis-dependent chronic kidney disease despite angiotensin-converting enzyme inhibition. A case of MCTD consisting of scleroderma, Sjögren's syndrome and polymyositis complicated by scleroderma renal crisis (SRC) but with negative anti-nuclear antibody (ANA), anti-Scl 70 and anti-centromere antibodies. Springerlink, May 2013;58:153 (Also see: Scleroderma Renal Crisis)
 
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