Mixed connective tissue disease

Description

Mixed connective tissue disease (MCTD) has signs and symptoms of a combination of disorders-primarily lupus, scleroderma and polymyositis. Many people with this rare disease who also have Sjogren's syndrome. For this reason, mixed connective tissue disease (MCTD) is sometimes referred to as an overlap disease.

In the mixed connective tissue disease, the symptoms of the separate diseases usually don't appear all at once. Instead, they tend to occur over a number of years, which can complicate the diagnosis.

The first signs and symptoms often involve the hands. The fingers may get swollen, and the tips of your fingers turn white and numb, often in response to cold exposure. In later stages, some organs, such as the lungs, heart and kidneys can be affected.

There is No cure for mixed connective tissue disease. The treatment depends on the severity of the disease and the organs involved.

Symptoms

The first signs of the mixed connective tissue disease may include:

  • General feeling of discomfort. This may include the increase of the fatigue and mild fever.
  • Cold and numb fingers or toes (Raynaud's phenomenon). In response to cold or stress, the fingers or toes of the feet could be turned into white, then purple, blue. After warming up, the fingers of the hands or feet that turn red.
  • Swollen fingers or hands. Some people have swelling of the fingers of the hands.
  • Muscle and joint pain. Joints can become inflamed, swollen and deformed, similar to what occurs with rheumatoid arthritis.
  • Rash. Red or reddish brown patches may appear with the knuckles.

When to see a doctor

Consult your doctor if you have signs and symptoms that interfere with your exercise routine, especially if you have been diagnosed with lupus or another connective tissue disease.

Causes

Mixed connective tissue disease is an autoimmune disorder, although the cause is not known. In autoimmune disorders, the immune system — responsible for the defense against the disease mistakenly attacks healthy cells.

In connective tissue diseases, your immune system attacks the fibers that provide the framework and support for your body. Some people with mixed connective tissue disease have a family history of the disease. But the role of genetics in the disease remains unclear.

Risk factors

Mixed connective tissue disease can occur in people of any age. However, it seems to be more common in women younger than 50 years of age.

Complications

Mixed connective tissue disease can lead to serious complications, some of which can be fatal. Complications include:

  • High blood pressure in the lungs (pulmonary hypertension). This condition is a major cause of death in people with mixed connective tissue disease.
  • The interstitial lung disease. This large group of disorders that can cause scarring in the lungs, which affects their ability to breathe.
  • Diseases of the heart. Parts of the heart can be enlarged, or the swelling may occur around the heart. Heart failure may occur.
  • The kidney damage. Around a quarter of people with mixed connective tissue disease develop kidney problems, Renal involvement is usually mild, but can lead to kidney failure.
  • Digestive tract damage. Commonly, mixed connective tissue disease that affects the digestive tract. You may have abdominal pain and problems with swallowing and digestion of food.
  • Anemia. About 75% of people with mixed connective tissue disease have iron-deficiency anemia.
  • The death of the tissues. People with Raynaud's disease may develop gangrene in the fingers of the hands.
  • The hearing loss. In a small study, hearing loss was reported in almost half of the patients with mixed connective tissue disease. More research is needed to understand this association.
  • Damage to the nerves. Sjögren's syndrome can affect the nerve that carries sensation from your face to your brain (the trigeminal nerve). If you have trigeminal neuralgia, even mild stimulation of your face — such as brushing your teeth or putting on makeup — may trigger a jolt of severe pain.

Mixed connective tissue disease

Diagnosis

During the physical exam, your doctor can check for swollen hands and a painful inflammation of the joints. You may also need a blood test to check for certain antibodies that are associated with mixed connective tissue disease.

Treatment

There is No cure for mixed connective tissue disease. Medications can help manage the signs and symptoms.

The type of medication prescribed depends on the severity of your disease and your symptoms. Medications may include:

  • Corticosteroids. Drugs, such as prednisone (Deltasone, Rays), can help to prevent the immune system attacks healthy cells and suppress inflammation. Side effects of corticosteroids can include mood changes, weight gain, high blood sugar, increased blood pressure, weakening of the bones and of the falls.
  • Anti-malarial drugs. Hydroxychloroquine (Plaquenil) can treat mild mixed connective tissue disease and can prevent flare-ups.
  • Calcium channel blockers. This category of drugs, such as nifedipine (Adalat CC, Procardia), and amlodipine (Norvasc), which help to relax the muscles in the walls of your blood vessels, it can be used to treat Raynaud's phenomenon.
  • Other immunosuppressants. Your doctor may prescribe other medications based on signs and symptoms. For example, if they are similar to those of lupus, your doctor may recommend medication prescribed to people with lupus.
  • Pulmonary hypertension medicines. Bosentan (Tracleer) or sildenafil (Revatio, Viagra) can be prescribed.

Self-care

Other ways to control the symptoms of mixed connective tissue disease are:

  • Nonsteroidal anti-inflammatory drugs. These medications, such as ibuprofen (Advil, Motrin IB, others) or naproxen sodium (Aleve), can help to alleviate the pain and inflammation if your condition is mild.
  • To protect the hands from the cold. The use of gloves and take other measures to keep your hands warm can help prevent Raynaud's phenomenon.
  • No smoking. Smoking causes the blood vessels to narrow, which can worsen the effects of Raynaud's phenomenon.
  • The reduction of stress. Raynaud's phenomenon is often caused by stress. Relaxation techniques — such as the reduction and focusing on your breathing can help reduce your stress levels.

Preparing for your appointment

You may be referred to a doctor who specializes in diseases of the joints (rheumatologist).

What you can do

Have a friend or relative to accompany you to your appointment to help retain the information you get.

Make a list of:

  • Your symptoms, including any that may seem unrelated to the reason for which you scheduled the appointment, and when they began
  • Key medical information, including other conditions you have and if someone in your family has had similar problems
  • All medications, vitamins or supplements that you are taking, including dose
  • Questions to ask your doctor

Some basic questions you may want to answer are:

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

Do not hesitate to ask other questions.

What to expect from your doctor

Your doctor may ask you questions, such as:

  • The symptoms been continuous or occasional?
  • How severe are the symptoms?
  • What, if anything, seems to improve or worsen your symptoms?
Symptoms and treatment of Mixed connective tissue disease