Early symptoms of Mixed Connective Tissue Disease

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Early symptoms of Mixed Connective Tissue Disease

What are the early clinical manifestations of Mixed Connective Tissue Disease, and how do they change over time?

The onset of Mixed Connective Tissue Disease is characterized by features of SSc, SLE, and inflammatory myopathy, usually developing sequentially over time.

The most common manifestations at onset are:

• Raynaud’s phenomenon (>90%).

• Synovitis (>90%).

• Swollen hands with puffy fingers (>70%).

• Myositis (>50%).

Raynaud’s phenomenon is present in almost all Mixed Connective Tissue Disease patients. The absence of severe renal and central nervous system (CNS) disease is another hallmark of MCTD, and if present, may suggest an alternative diagnosis. Joint involvement is common and can result in deformities that resemble Jaccoud’s arthropathy; a few patients develop an erosive, destructive arthritis. Skin changes seen in the early stages are usually limited to edematous hands. Esophageal dysmotility is common. The inflammatory symptoms including synovitis, myositis, and serositis generally respond to therapy with corticosteroids. Over time, the manifestations of MCTD tend to become less severe and less frequent; inflammatory symptoms and signs including arthralgias, arthritis, myositis, serositis, fever, lymphadenopathy, hepatomegaly, and splenomegaly become much less common. Persistent problems are most often those associated with SSc, such as sclerodactyly, Raynaud’s phenomenon, and esophageal dysmotility. Pulmonary hypertension is the primary disease-associated cause of death

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