Mixed connective tissue disease (MCTD) is a rare autoimmune disease with a variety of symptoms, such as numbness in toes and fingers or Raynaud’s syndrome, swollen hands, and muscle inflammation.

Diagnostic tests, such as blood tests, can help diagnose MCTD by looking for antinuclear antibodies, including anti-U1-ribonucleoprotein antibodies (anti-U1-RNP). The high presence of these antibodies can indicate that a person has MCTD.

Having a blood test to diagnose MCTD may include:

  • fasting beforehand, as specified by your doctor
  • making sure your doctor is aware of specific medications you are taking beforehand
  • additional tests for MCTD may also occur, including an echocardiogram to check for cardiac dysfunction or issues with the heart, or musculoskeletal imaging

Blood tests can also help indicate other markers of the disease, alongside ruling out other conditions such as:

Symptoms of MCTD include:

  • changes in skin, specifically the hands and fingers, becoming swollen, developing lesions or rashes
  • inflammatory arthritis, which involves issues with the joints
  • shortness of breath
  • pericarditis, or inflammation of the sac surrounding the heart
  • gastrointestinal issues such as trouble swallowing and reflux

Treatment for MCTD involves managing symptoms, such as:

  • nonsteroidal anti-inflammatory drugs (NSAIDs) for joint pain
  • corticosteroids for inflammation
  • immunosuppressants
  • lifestyle changes such as engaging in regular exercise, eating a nutritious diet, and avoiding smoking and excessive drinking