Mixed connective tissue disease

February 2, 2017

Mixed connective tissue disease (MCTD) is an autoimmune disease first described in 1972 and is considered an “overlap” of three diseases, systemic lupus erythematosus (lupus), scleroderma and polymyositis. People with MCTD experience symptoms of each of these three diseases. In many cases, this mixed set of symptoms is eventually dominated by symptoms characteristic of one of the three illnesses, especially scleroderma or lupus.

Mixed connective tissue disease has features of three other connective tissue diseases –

  • Systemic lupus erythematosus (SLE) – An inflammatory disease that can affect many different organs. Symptoms include fever, fatigue, joint pains, weakness, and skin rashes on the face, neck, and upper body.
  • Scleroderma – Abnormal thickening and hardening of the skin, underlying tissue, and organs
  • Polymyositis – Muscle inflammation (swelling)

About 25% of patients with a connective tissue disease (such as dermatomyositis, rheumatoid arthritis, Sjogren’s syndrome, and the three disease listed above), develop another connective tissue disease over the course of several years. This is known as an “overlap syndrome.”

Mixed connective tissue disease occurs most often in women and is usually diagnosed in young adults in their 20s and 30s. Children have also been diagnosed with mixed connective tissue disease.

Mixed connective tissue disease is somewhat of a controversial term among arthritis specialists (rheumatologists). Some question whether mixed connective tissue disease is its own specific disease or whether it’s a precursor to another connective tissue disease.


The exact underlying cause of mixed connective tissue disease (MCTD) is currently unknown. It is an autoimmune disorder, which means the immune system mistakes normal, healthy cells for those that that body should “fight off.” There are ongoing studies exploring how immune system dysfunction may be involved in the development of this condition.

Risk Factors

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.


In the beginning stages, patients who have MCTD have symptoms similar to those of patients with other connective tissue disorders, including –

  • Fatigue
  • Muscle pain with no apparent cause
  • Joint pain
  • Low-grade fever
  • Raynaud phenomenon (reduced blood flow to the fingers, toes, ears, and nose). This causes sensitivity, numbness, and loss of color in these areas.

Less common early symptoms may include –

  • Severe polymyositis, often in the shoulders and upper arms
  • Acute (intense) arthritis
  • Aseptic meningitis (inflammation of the brain and spinal cord meninges, not caused by a bacteria or virus)
  • Myelitis (inflammation of the spinal cord)
  • Gangrene (death and decay) of fingers or toes
  • High fever
  • Abdominal pain
  • Neuropathy (nerve disorders) affecting the trigeminal nerve in the face
  • Hearing loss

The “classic” symptoms of MCTD are –

  • Raynaud phenomenon
  • swollen “sausage-like” fingers, sometimes temporary but at other times progressing into sclerodactyly (thin fingers with hardened skin and limited movement)
  • inflamed joints and muscles
  • pulmonary hypertension (high blood pressure in the blood vessels of the lungs)


Mixed connective tissue disease can lead to serious complications, including –

  • High blood pressure in the lungs (pulmonary hypertension) – This condition is the main cause of death in people with mixed connective tissue disease.
  • Interstitial lung disease – This large group of disorders can cause scarring in the lungs, which affects the ability to breathe.
  • Heart disease – Parts of the heart may become enlarged, or inflammation may occur around the heart. Heart disease is the cause of death in about 20 percent of people with mixed connective tissue disease.
  • Kidney damage – About one-fourth of people with mixed connective tissue disease develop kidney problems. Sometimes, that damage can lead to kidney failure.
  • Digestive tract damage – People may develop abdominal pain and problems with digesting food.
  • Anemia – About 75 percent of people with mixed connective tissue disease have iron deficiency anemia.
  • Tissue death (necrosis) – People with severe Raynaud’s phenomenon can develop gangrene in the fingers.
  • Hearing loss – Often unrecognized, hearing loss may occur in as many as half the people with mixed connective tissue disease.


Treatment for MCTD depends on which organs are involved and the severity of the disease. Some people need continuous treatment, while others need it only during periods of heightened disease activity, called flares.

Treatment may include corticosteroids to reduce inflammation and immunosuppressive drugs to suppress the immune system and its attack on healthy tissue. Other medications may be prescribed to treat or reduce the risk of certain complications of the disease.

Treatment considerations include the following –

  • Pulmonary hypertension is the most common cause of death in people with MCTD, and must be treated with antihypertensive medications.
  • People with a mild form of MCTD may not need treatment, or only low doses of nonsteroidal anti-inflammatory drugs, antimalarials, or low-dose corticosteroids (such as prednisone) to treat inflammation.
  • Higher doses of corticosteroids are often used to manage the signs and symptoms of moderate to severe MCTD. If major organs are affected, the patient may have to take immunosuppressants (to suppress the immune system).
  • MCTD patients are also at risk of developing heart disease, including an enlarged heart or pericarditis (inflammation around the heart). Patients may need regularly scheduled electrocardiograms to monitor the heart’s condition.

Alternative Treatment

Acupuncture – An acupuncture practitioner inserts tiny needles into the skin at precise points on the body. Studies of acupuncture have found it may help relieve many types of pain. Acupuncture is safe when done by a certified practitioner.

Fish oil supplements – Fish oil supplements have shown some promise in relieving signs and symptoms of other connective tissue diseases, such as lupus and rheumatoid arthritis. Fish oil supplements may help relieve joint pain and stiffness.

Hypnosis – During a hypnotherapy session, a therapist talks in a gentle voice that helps you relax. The therapist helps you reach a state of altered consciousness that lets people focus their mind on their goals or think positively about their challenges. Hypnosis may help relieve pain and stress.

Relaxation techniques – Relaxation techniques may help people take their mind off their signs and symptoms and help people relax. Relaxation techniques include activities such as progressive muscle relaxation and guided imagery. People can learn relaxation techniques from a therapist, or they can do them on their own. Relaxation techniques are generally safe.

Flaxseed – Flaxseed contains a fatty acid called alpha-linolenic acid, which may decrease inflammation in the body. Some studies have found that kidney function may improve in lupus patients who have kidney problems, such as like lupus nephritis. Abdominal pain and bloating can be side effects of taking flaxseed.

DHEA – DHEA is a steroid molecule manufactured by the cholesterol-pregnenolone pathway, and is an intermediate to androstenediol and androstenedione, which have the potential to become either estrone or testosterone. Supplements containing this hormone have been shown to reduce the dose of steroids needed to stabilize symptoms in some people who have lupus

Herbal Medicine – Feverfew, goldenseal, and pau d’arco are just a few of the helpful herbs one can use, please consult the physician before adding any of these supplements as they may interfere with the other medications or have unwanted effects.

Chiropractic therapy – This therapy relies on the manipulation of the spine to improve the mobility of the joints and reduce pain. Chiropractic therapy practitioners have to go through training and licensing exams, and chiropractic care is often covered by insurance.

Vitamin A – Vitamin A is an antioxidant and is commonly found in whole milk, liver, and some fortified foods. Beta-carotene is a pro-vitamin found in carrots and many colorful vegetables that are then converted to vitamin A in the body. Vitamin A protects against free radicals (harmful substances in your body) which can damage DNA and lead to cancer and other diseases, and has anti-inflammatory effects.

Vitamin D – People with lupus have shown some benefits from taking Vitamin D supplements   In recent testing, high doses of vitamin D were safe and appeared to temper some of the destructive immune system responses believed to cause lupus. Research is pointing to an immune-regulating role for vitamin D.

Vitamin E – This vitamin supplement comes in several different forms. The alpha-tocopherol type of Vitamin E may help prevent heart disease by slowing the release of inflammatory substances that damage the heart.* Alpha-tocopherol also might be effective for easing lung .inflammation related to allergies. However, because studies were conducted on animals, it’s not yet clear whether the results will translate to humans.

Evening primrose oil – Used to treat inflammation, evening primrose oil is associated with alleviating rheumatoid arthritis.


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