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mixed connective tissue DiseaseMixed Connective Tissue Disease, or MCTD, is an autoimmune disease in which the body’s immune system attacks the structural parts of the body which hold the cells together. Primarily, this includes the molecules of elastin and collagen. Those suffering from Mixed Connective Tissue Disease demonstrate symptoms from three separate autoimmune diseases  – scleroderma, systemic lupus, and erytheatosus. It can occur anytime in life but the average age for on-set is between teenage years and one’s 30’s. 80% of suffers are women. This means MCTD is fifteen times more likely to occur in women as in men; this has caused scientists to hypothesize that the disease is related to hormones.

Symptoms of Mixed Connective Tissue Disease

Early symptoms of Mixed Connective Tissue Disease are often subtle and therefore disregarded. These can include swollen hands and fingers, rashes, discoloration of the eyelids, hair loss, red patches on knuckles, digestive problems, fatigue, sore throat, and development of allergies. These symptoms can become worse slowly or quite rapidly. Advanced stages of MCTD can come with symptoms including muscle weakness and pain, arthritis, and infections in the gums, stomach, and lungs. Some may develop inflammation in the membrane around the lungs; this can lead to shortness of breath or other more serious symptoms. Some may see a development of kidney disease or even heart disease.

References on Mixed Connective Tissue Disease

Alves, M. R., & Isenberg, D. A. (2020). “Mixed connective tissue disease”: a condition in search of an identity. Clinical and experimental medicine, 20(2), 159–166.

Mixed connective tissue disease was first described as a new autoimmune rheumatic disease in 1972 based on the claim of a distinct clinical picture associated with anti-RNP antibody positivity. Subsequently, this new entity has divided opinions in the rheumatology community. We have reviewed recent cohort studies with more than 100 patients, comparing the clinical and immunological features, treatment, prognosis and evolution to well-defined autoimmune rheumatic diseases. We also reviewed clinical features of undifferentiated autoimmune rheumatic diseases based on the most recent studies. After gathering and reviewing these data, we discuss whether the designation “mixed connective tissue disease” should be maintained.

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