Disease Info

Mixed Connective Tissue Disease (MCTD)

Mixed connective tissue disease (MCTD) also known as Sharp’s syndrome was described for the first time in 1972 by Sharp GC. and concerns a systemic autoimmune disease typified by overlapping features between two or more systemic autoimmune diseases (primarily Systemic Lupus Erythematosus, Systemic Sclerosis, Sjögren’s syndrome, Rheumatoid Arthritis and Polymyositis) along with the presence of antinuclear antibodies in very high serum dilutions antibodies targeting the U1 small nuclear ribonucleoprotein autoantigen (U1snRNP).

In mixed connective tissue disease, the symptoms of the different diseases usually don’t appear all at once. Instead, they tend to occur in sequence over a number of years, which can make diagnosis more complicated.

Initial symptoms of mixed connective tissue disease can include non-specific complains such as general feeling of being unwell. This malaise may be accompanied by increased fatigue and a mild fever. Polyarthritis, Raynaud’s phenomenon, puffy fingers, lung involvement and esophageal dysmotility are the most frequently reported symptoms during the course of the disease. Moreover, in recent years a growing interest has been focused on severe organ involvement such as pulmonary arterial hypertension and interstitial lung disease which can accrue during the long-term follow-up and can still significantly influence disease prognosis.

Generally accepted classification criteria and rrecommendations on MCTD diagnosis (diagnostic criteria), on initial and follow-up evaluations and treatment are lacking.

Marzena Olesińska
Disease Coordinator

Vera Guimarães
ePAG representative

Benjamin Chaigne
Disease Coordinator