Mixed connective tissue disease (MCTD) is a distinct clinical entity with a specific set of symptoms, association with genetic markers, and presence of anti-U1-RNP autoantibodies.
Females are more often affected by this disease. The clinical picture of MCTD usually evolves slowly over 5-6 years and can be challenging to identify in the initial stages. Raynaud’s phenomena, severe arthritis, swollen hands or fingers, and breathlessness can be initial features of MCTD. Later stages are characterized by symptoms involving various body systems. These include abnormal movements of the food pipe (esophagus) and bowel, involvement of lungs and right heart, fluid around lungs (pleural effusion), thickening of the skin of fingers, ulcers, and gangrene of fingers, and anemia. Kidney and nervous system involvement are less common in MCTD.
Blood examination reveals many autoantibodies, anti-U1-RNP antibodies, and rheumatoid factor are most common. Various tests are also required to rule out other organs such as the heart, lungs, and esophagus.
One-third of cases of MCTD have a benign course, whereas another one-third requires long-term medication. Fertility is normal, although pregnancy must be planned during a controlled phase of the disease. Death is usually due to severe involvement of the heart or kidneys and infections following long-term steroid use.
Treatment of MCTD must be under the guidance of a rheumatologist with necessary help from other super specialists such as cardiologists, pulmonologists, and nephrologists. Treatment needs to be aggressive when heart or kidney involvement is suspected. It is necessary to stop smoking and avoid cold exposure by wearing warm gloves and socks if Raynaud’s phenomenon is a problem. Treatment of digital ulcers is very tedious as they heal slowly over months.<.p>