Mixed connective tissue disease

Medical quality assurance by Dr. Albrecht Nonnenmacher, MD at November 28, 2016
StartDiseasesMixed connective tissue disease

Mixed connective tissue disease (MTCD) is a rare disorder of the connective tissue, which is the supporting framework of the body. MTCD shares characteristics of systemic lupus erythematosus, scleroderma, and polymyositis. It can affect people of all ages, but it usually strikes women in their 20s or 30s.


Definition & Facts

Mixed connective tissue disease resembles such autoimmune diseases as rheumatoid arthritis, dermatomyositis, lupus, and scleroderma. It also has aspects of arthritis, kidney disease, lung disease, heart disease, and other maladies. The symptoms of this condition do not present all at once but arise in waves over the course of several years.

Symptoms & Complaints

Patients with mixed connective tissue disease often have Raynaud’s phenomenon. In Raynaud’s phenomenon, the patient will experience pain and numbness in their fingers and toes when they are exposed to cold.

The blood vessels in the hands and feet narrow. The digits turn pale or turn blue and then turn red. Severe cases of this disease can lead to gangrene and a loss of fingers and toes.

Patients with mixed connective tissue disease may experience joint pain and inflammation that resembles rheumatoid arthritis. Their muscles may be weak because of inflammation, though the muscles will not necessarily be tender. People can also have fatigue and fevers.

Patients with MTCD can have edema of their hands that results when fluid accumulates in the tissues. They may have an abnormally high amount of collagen under the skin, rashes that resemble the rashes found in lupus, and other skin discolorations around their eyelids and knuckles. They may lose their hair and develop spider veins around their fingernails.

Many mixed connective tissue disease patients suffer from dysmotility of the esophagus. The esophagus, the tube that stretches from the throat to the stomach, does not function the way it should, and problems with swallowing can occur.

Lung problems are also common among MTCD patients, including pulmonary hypertension. This is high blood pressure in the blood vessels that serve the lung, and is the leading cause of death among people who have MTCD. Interstitial lung disease is a group of disorders that involve the scarring of the lungs and make breathing difficult.

Heart problems are less common than problems with the esophagus or lungs, but they still lead to about 20 percent of the deaths of people with mixed connective tissue disease. In one study, most of the children diagnosed with MTCD had heart disease, including inflammation of the cardiac muscle or the protective membrane around the heart.

Patients also have anemia and low white blood cell levels. They can have enlarged spleens (splenomegaly) and livers (hepatomegaly), problems with their lymphatic system and problems with their intestines. People with MTCD can also have hearing loss which may go unnoticed for a long time.

Kidney problems and neurological problems may also be present. If kidney disease is present, it is often mild. Neurological symptoms can include strange sensations in the face and body, headaches, meningitis, seizures, cerebral hemorrhage, and brain damage.


Medical professionals do not know what causes mixed connective tissue disease, though it’s strongly believed to be a sort of autoimmune disease. These diseases occur when the patient’s own immune system attacks the body as well as foreign pathogens. In the case of MCTD, the body attacks the structures that support the body.

Mixed connective tissue disease may also have a genetic factor, as some people have close family members with the condition. However, researchers don’t know how heredity works when it comes to MCTD.

Diagnosis & Tests

Mixed connective tissue disease can be difficult to diagnose. Doctors make a determination of MCTD by taking the patient’s medical history and performing a thorough physical examination. They may also order blood tests that check the patient’s levels of anti-nuclear antibodies.

Treatment & Therapy

The treatment of a patient with mixed connective tissue disease depends on their particular symptoms. The disease seems to respond well to corticosteroids, even if they are prescribed in low doses. NSAIDs or non-steroidal anti-inflammatory drugs such as ibuprofen, also bring relief from some of the symptoms.

In some cases, doctors prescribe drugs that suppress the patient’s immune system. High blood pressure medications are considered if the patient has kidney damage. Since some of these drugs have side effects like osteoporosis, the patient will need to be monitored and possibly given vitamin supplements and/or mineral supplements to ward off the side effects.

If the patient has symptoms that resemble rheumatoid arthritis, the doctor might consider TNF inhibitors or physical therapy to ease joint pain. If the MCTD has progressed to pulmonary hypertension, the doctor may prescribe drugs that dilate the arteries that feed the lungs, anticoagulant drugs, and sometimes oxygen therapy.

For the esophageal problems MCTD patients experience, the doctor can have the patient sleep with their head elevated and relieve the symptoms of heartburn with drugs such as omeprazole, lansoprazole, and antacids. If the patient is prone to Raynaud’s phenomenon, they can be taught techniques to keep their hands warm and rub nitroglycerin cream into their fingers to open up the blood vessels there.

Prevention & Prophylaxis

There is no known way to prevent mixed connective tissue disease, but patients tend to do better if they have their condition treated in its early stages and are carefully monitored over the years.