Mixed connective tissue disease

Mixed connective tissue disease, commonly abbreviated as MCTD, is an autoimmune disease characterized by the presence of elevated blood levels of a specific autoantibody, now called anti-U1 ribonucleoprotein (RNP) together with a mix of symptoms of systemic lupus erythematosus (SLE), scleroderma, and polymyositis. The idea behind the "mixed" disease is that this specific autoantibody is also present in other autoimmune diseases such as systemic lupus erythematosus, polymyositis, scleroderma, etc. MCTD was characterized as an individual disease in 1972 by Sharp et al., and the term was introduced by Leroy in 1980. It is sometimes said to be the same as undifferentiated connective tissue disease, but other experts specifically reject this idea because undifferentiated connective tissue disease is not necessarily associated with serum antibodies directed against the U1-RNP, and MCTD is associated with a more clearly defined set of signs/symptoms. MCTD combines features of scleroderma, polymyositis, systemic lupus erythematosus, and rheumatoid arthritis (with some sources adding myositis, dermatomyositis, and inclusion body myositis) and is thus considered an overlap syndrome. The initial clinical manifestations of MCTD usually are unspecific. They can consist of general malaise, arthralgias, myalgias, and fever. The specific signs to suspect this disease is the presence of positive antinuclear antibodies (ANA), specifically anti-RNP, associated with Raynaud's phenomenon. Almost every organ can be affected by MCTD. Raynaud's phenomenon is the most common presenting symptom seen in patients, with arthralgia and swollen hands being the second and third most common respectively. With patients that meet full criteria for MCTD, arthritis is the most common symptom with Raynaud's, swollen hands, leukopenia/lymphopenia, and heartburn following in descending order. A 2016 epidemiological population based study found 3.6 years to be the average amount of time from the first manifestations of the disease until all the criteria for diagnosis were met.

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Scleroderma

Scleroderma is a group of autoimmune diseases that may result in changes to the skin, blood vessels, muscles, and internal organs. The disease can be either localized to the skin or involve other organs, as well. Symptoms may include areas of thickened skin, stiffness, feeling tired, and poor blood flow to the fingers or toes with cold exposure. One form of the condition, known as CREST syndrome, classically results in calcium deposits, Raynaud's syndrome, esophageal problems, thickening of the skin of the fingers and toes, and areas of small, dilated blood vessels.

Lupus

Lupus, technically known as systemic lupus erythematosus (SLE), is an autoimmune disease in which the body's immune system mistakenly attacks healthy tissue in many parts of the body. Symptoms vary among people and may be mild to severe. Common symptoms include painful and swollen joints, fever, chest pain, hair loss, mouth ulcers, swollen lymph nodes, feeling tired, and a red rash which is most commonly on the face. Often there are periods of illness, called flares, and periods of remission during which there are few symptoms.

Raynaud syndrome

Raynaud syndrome, also known as Raynaud's phenomenon, named after the physician Auguste Gabriel Maurice Raynaud, who first described it in his doctoral thesis in 1862, is a medical condition in which the spasm of small arteries causes episodes of reduced blood flow to end arterioles. Typically, the fingers, and less commonly, the toes, are involved. Rarely, the nose, ears, or lips are affected. The episodes classically result in the affected part turning white and then blue. Often, numbness or pain occurs.