Florea Laura MD
University of Medicine and Pharmacy “Grigore T. Popa” Iasi
Mixed connective tissue disease: A disease entity?
Author: Laura Florea
Mixed connective tissue disease (MCTD) is an autoimmune disorder that has features of other connective tissue diseases: systemic lupus erythematosus, scleroderma, polymyositis and rheumatoid arthritis. MCTD is a rare disease, occurring most often in women in their 20s and 30s. The causes of MCTD are not known. Genetic factors, exposure to certain viruses or chemicals such as polyvinyl chloride and silica are possible causes. Manifestations of MCTD can be various. Most patients experience severe Raynaud phenomenon, digital vascular infarcts and ulcerations, arthralgia, arthritis, swollen “sausage-like” fingers, sclerodactyly or acrosclerosis, and mild myositis. Other features can be: esophageal hypomotility, pulmonary dysfunction, rash, leukopenia, pleuritis, pericarditis, pulmonary hypertension, aseptic meningitis, myelitis, gangrene of fingers or toes, neuropathy affecting the trigeminal nerve in the face. High-titer speckled pattern fluorescent antinuclear antibody (FANA) is typical of MCTD. High concentrations in blood tests of a particular antibody called anti-U1-RNP (ribonucleoprotein) are detected. The Alarcón-Segovia diagnostic criteria consist of a positive anti–U1 RNP titer (>1:1600) and at least three of the following five clinical findings: hand edema, synovitis, biologically or histologically proven myositis, Raynaud phenomenon, acrosclerosis with or without proximal systemic sclerosis. Overlap syndrome and undifferentiated autoimmune rheumatic disease must differentiate from MTCD . The overall goal of therapy in MCTD is to control symptoms and to maintain function. Monitoring for development of complications, such as pulmonary hypertension or infection is important. Treatment for MCTD must be tailored to each particular patient, depending on the organs that are affected and how severe the condition is. Some patients may need treatment only during flare-ups, while others may require constant care. Education about MCTD and its treatment is essential. An interdisciplinary approach, which involves team members from different disciplines, is the key to success.