Mixed connective tissue disease

Overview

Mixed connective tissue disease, also called MCTD, has symptoms of more than one rheumatic condition. These conditions include lupus, scleroderma and myositis. Many people who have mixed connective tissue disease also have inflammatory arthritis and Sjogren syndrome. Mixed connective tissue disease is not common.

In mixed connective tissue disease, the symptoms of each condition don't often appear at once. Instead, they tend to happen over years. And some can be more serious than others. This can make diagnosis harder.

Early symptoms often involve the hands. The fingers might get puffy and the fingertips become white and numb, often in response to being cold. Later, the condition can affect organs such as the lungs, heart and kidneys.

There's no cure for mixed connective tissue disease. Treatment depends on how serious the disease is and the organs involved.

Symptoms

Early symptoms of mixed connective tissue disease can include:

• Feeling of not being well. This can include tiredness and a mild fever.
• Cold and numb fingers or toes. Also called Raynaud's disease, this happens in response to cold or stress. Fingers or toes might turn white and then blue or gray. After warming, the fingers or toes turn red. Depending on skin color, these changes may be harder or easier to see.
• Swollen fingers or hands. Some people have swelling of the fingers.
• Muscle and joint pain. Joints can become irritated and swollen, called inflamed. Joints may change shape. This is like what happens with rheumatoid arthritis.
• Rash. Red or brown patches can appear over the knuckles. Depending on skin color, these changes may be harder or easier to see.

When to see a doctor

See your healthcare professional if you have symptoms that worry you.

Causes

Experts don't know what causes mixed connective tissue disease. It's a condition in which the immune system attacks healthy cells by mistake, called an autoimmune condition. Most often, the immune system fights off diseases.

In connective tissue diseases, the immune system attacks the fibers that provide support for the body. Some people with mixed connective tissue disease have a family history of the condition. But the role of genes isn't clear.

Risk factors

Mixed connective tissue disease can happen at any age. But it seems to be most common in people assigned female at birth who are younger than age 50.

Complications

Mixed connective tissue disease can lead to serious complications. Some of them can be fatal. Complications include:

• High blood pressure in the lungs. Also called pulmonary hypertension, this condition is a major cause of death in people with mixed connective tissue disease.
• Interstitial lung disease. This large group of disorders can cause scarring in the lungs. Scarring makes it harder to breathe. Many people with interstitial lung disease need oxygen for treatment.
• Heart disease. Parts of the heart can get larger or not work as they should. There can be swelling and irritation, called inflammation, around the heart. Heart failure can happen.
• Kidney damage. Some people with mixed connective tissue disease have kidney symptoms. The symptoms most often are mild. But the kidney damage can lead to kidney failure.
• Digestive tract damage. Mixed connective tissue disease often affects the long tube of organs involved with digesting food and liquids. You might have heartburn, belly pain, and trouble swallowing or digesting food.
• Tissue death. The tissue in the fingertips of people with serious Raynaud's disease can die. This also is called gangrene.
• Hearing loss. One small study reported hearing loss in almost half the people with mixed connective tissue disease. This link needs more research.
• Dry mouth. Sjogren syndrome is one of the autoimmune conditions that can be part of mixed connective tissue disorder. It can cause dental issues and loss of teeth.

Diagnosis

Diagnosis of mixed connective tissue disease involves a physical exam, a medical history and tests. During the physical exam, your healthcare professional may check you for puffy fingers and painful, swollen joints.

Tests

You also might need the following tests:

• Blood tests. A complete blood count, also called a CBC, checks for anemia and overall health. And blood tests can measure the degree of inflammation in the body.

  A blood test can check for antibodies that are linked with mixed connective tissue disease. These are antinuclear antibodies, also called ANAs, and antiribonucleoprotein antibodies, also called anti-RNP antibodies. These antibodies must be present for the diagnosis. But not all people with the antibodies have the condition.

• Urine tests. These can help show whether the kidneys are affected and how badly.

Treatment

There's no cure for mixed connective tissue disease. Medicines can help manage the symptoms.

The type of medicine you take depends on how bad your condition is and what organs it affects. Medicines may include:

• Corticosteroids. Medicines such as prednisone can help keep the immune system from attacking healthy cells and ease swelling and irritation. Long-term use can lead to serious side effects. Side effects may include mood swings, weight gain, high blood sugar, increased blood pressure, higher risk of infection, weakened bones and cataracts.
• Medicines that treat malaria. Hydroxychloroquine (Plaquenil, Sovuna) can treat mild mixed connective tissue disease. It might prevent flares of the condition.
• Calcium channel blockers. These medicines, including nifedipine (Procardia) and amlodipine (Norvasc), help relax the muscles in the walls of blood vessels. They can help treat Raynaud's phenomenon.
• Other medicines to keep the immune system from attacking healthy cells, called immunosuppressants. Your healthcare professional might prescribe other medicines based on your symptoms. For instance, if your symptoms are like those of lupus, you might try medicines most often given to people with lupus.
• Medicines to treat high blood pressure in the lungs. Your healthcare professional might prescribe bosentan (Tracleer) or sildenafil (Revatio, Viagra) to treat this condition, which also is called pulmonary hypertension.
• Medicines to treat interstitial lung disease. If you already have lung scarring, treatment won't reverse it. But treatments may stop the condition from getting worse.

  Treatments can ease symptoms for a time or slow the worsening of the condition. Your healthcare professional may prescribe corticosteroids and other medicines to help ease symptoms.

Self care

Other ways to manage symptoms of mixed connective tissue disease include the following:

• Take nonsteroidal anti-inflammatory medicines. These medicines, such as ibuprofen (Advil, Motrin IB, others) or naproxen sodium (Aleve), might help ease pain and swelling if your condition is mild.
• Protect hands from cold. Wear gloves and use hand warmers, if needed. Keeping your hands warm can help prevent Raynaud's phenomenon.
• Don't smoke. Smoking causes blood vessels to narrow. This can make Raynaud's disease worse.
• Lower stress. Stress can make Raynaud's disease worse. Find ways to lower your stress level. For instance, try deep breathing or meditation.

Preparing for your appointment

You might start by seeing your main healthcare professional. You then might see a doctor who specializes in joint diseases, called a rheumatologist.

What you can do

Have a friend or family member go with you to your appointment to help you remember all the information you can.

Make a list of:

• Your symptoms, including any that may not seem related to the reason you scheduled the appointment, and when they began.
• Key medical information, including other conditions you have and whether anyone in your family has had symptoms like yours.
• All the medicines, vitamins and other supplements you take, including dosages.
• Questions to ask your healthcare professional.

Some basic questions you might ask include:

• What's the most likely cause of my symptoms?
• What tests do I need?
• What treatments are there?
• I have other health conditions. How can I best manage them together?

Be sure to ask all the questions you have.

What to expect from your doctor

Be ready to answer questions, such as:

• Do you always have symptoms, or do they come and go?
• How bad are your symptoms?
• What, if anything, seems to make your symptoms better?
• What, if anything, seems to make your symptoms worse?