Definition

What is mixed connective tissue disease?

Mixed connective tissue disease has signs and symptoms of a combination of disorders — primarily lupus, scleroderma and polymyositis. For this reason, mixed connective tissue disease is sometimes referred to as an overlap disease.

In mixed connective tissue disease, the symptoms of the separate 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.

Early signs and symptoms often involve the hands. Fingers might swell like sausages, and the fingertips become white and numb. In later stages, some organs — such as the lungs, heart and kidneys — may be affected.

How common is mixed connective tissue disease?

About 80% of people who have this disease are women. Mixed connective tissue disease occurs worldwide and affects people aged 5 to 80, often peaking in incidence during adolescence and in the 20s. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of mixed connective tissue disease?

The common symptoms of mixed connective tissue disease are:

General feeling of being unwell. This malaise may be accompanied by increased fatigue and a mild fever.
Cold and numb fingers or toes (Raynaud’s phenomenon). In response to cold or stress, your fingers or toes might turn white and then purplish blue. After warming, the fingers or toes turn red.
Swollen fingers or hands. Some people experience swelling to the point where the fingers resemble sausages.
Muscle and joint pain. Joints may become deformed, similar to what occurs with rheumatoid arthritis.
Red or reddish brown patches may appear over the knuckles.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes mixed connective tissue disease?

The precise cause of mixed connective tissue disease isn’t known.

Mixed connective tissue disease is an autoimmune disorder. In autoimmune disorders, your immune system — responsible for fighting off disease — mistakenly attacks healthy cells.

In connective tissue diseases, your immune system attacks the fibers that provide the framework and support for your body. Researchers are working to identify proteins produced by the immune system that might cause mixed connective tissue disease.

Some people with mixed connective tissue disease have a family history of the condition. But the role of genetics in causing the disease remains unclear.

Risk factors

What increases my risk for mixed connective tissue disease?

Mixed connective tissue disease can occur in people of any age. However, it appears to be most common in women under the age of 30.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is mixed connective tissue disease diagnosed?

Doctors suspect mixed connective tissue disease when symptoms of lupus, systemic sclerosis, and polymyositis (see Polymyositis) overlap.

Blood tests are done to detect an antibody to ribonucleoprotein, which is present in most people who have mixed connective tissue disease. A high level of this antibody without the other antibodies present in other similar disorders is characteristic of mixed connective tissue disease.

If doctors suspect certain organs are affected, they may do other tests, such as magnetic resonance imaging (MRI) or a muscle biopsy (removal of a piece of muscle tissue for examination and testing), to detect problems.

How is mixed connective tissue disease treated?

The treatment is similar to that of lupus. Corticosteroids are usually effective, especially when the disease is diagnosed early. Mild cases can be treated with nonsteroidal anti-inflammatory drugs (NSAIDs), hydroxychloroquine or similar drugs, or very low doses of corticosteroids. The more severe the disease, the higher the dose of corticosteroid needed. In severe cases, immunosuppressive drugs (such as azathioprine, methotrexate, or cyclophosphamide) may also be needed.

In general, the more advanced the disease and the greater the organ damage, the less effective the treatment. Systemic sclerosis–like damage to the skin and esophagus is least likely to respond to treatment.

People who take corticosteroids are at risk of fractures related to osteoporosis. To prevent osteoporosis, these people are given the drugs used to treat osteoporosis, such as bisphosphonates and supplemental vitamin D and calcium. People who have mixed connective tissue disease are at increased risk of atherosclerosis (see Atherosclerosis) and are closely monitored by doctors. People who are receiving immunosuppressants are also given drugs to prevent infections such as by Pneumocystis jirovecii.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage mixed connective tissue disease?

The following lifestyles and home remedies might help you cope with mixed connective tissue disease:

Nonsteroidal anti-inflammatory drugs. Medications, such as ibuprofen (Advil, Motrin IB, others) or naproxen sodium (Aleve, others), may help relieve the pain and inflammation if your condition is mild.
Protecting hands from cold. Wearing gloves and taking other measures to keep your hands warm can help prevent Raynaud’s phenomenon.
Smoking cessation. Smoking causes blood vessels to narrow, which can worsen the effects of Raynaud’s phenomenon.
Reducing stress. Raynaud’s phenomenon is often triggered by stress. Relaxation techniques — such as slowing and focusing on your breathing — can help reduce your stress levels.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.