Mixed Connective Tissue Disease

Diagnosis

Diagnosis of mixed connective tissue disease typically involves a medical history review, a physical exam and specific lab tests. During the physical exam, your healthcare professional may look for signs such as puffy fingers and painful, swollen joints. These symptoms help guide further testing and confirm whether mixed connective tissue disease is present.

Tests

Several tests may be used to support a diagnosis and determine how the condition affects the body:

Blood tests. A complete blood count can check for anemia and provide information about overall health. Blood tests also measure levels of inflammation. Antinuclear antibodies and antiribonucleoprotein antibodies must be present for diagnosis, though having these antibodies does not always mean a person has the condition.

Urine tests. These tests help determine whether the kidneys are affected and how severely they may be involved.

Treatment

There is no cure for mixed connective tissue disease, but medicines can help manage symptoms and slow progression. Treatment depends on how severe the condition is and which organs are affected.

Medicines that may be prescribed include:

• Corticosteroids such as prednisone to reduce immune system activity and ease swelling and irritation
• Medicines used for malaria, such as hydroxychloroquine, to treat mild symptoms and help prevent flares
• Calcium channel blockers to help treat Raynaud’s phenomenon by relaxing the muscles in blood vessel walls
• Immunosuppressants tailored to specific symptoms, especially if they resemble conditions such as lupus
• Medicines for pulmonary hypertension, such as bosentan or sildenafil
• Treatments for interstitial lung disease to help slow the progression of lung scarring

Treatments may ease symptoms or slow the condition’s worsening. Your healthcare professional may adjust medicines over time to help manage symptoms effectively.