What is Mixed Connective Tissue Disease?

Rheumatology is a complicated field of medicine.  Not only are there more than 100 rheumatic diseases associated with arthritis, there are many conditions which share the same symptoms.  In fact, patients who have features or meet the diagnostic criteria of more than one autoimmune disease may be diagnosed with an overlap syndrome.  Mixed connective tissue disease (MCTD) is one such overlap syndrome.

What is MCTD?

Mixed connective tissue disease is a rheumatic disease combining clinical features of lupus, scleroderma, polymyositis or dermatomyositis, and/or rheumatoid arthritis.  While symptoms may be systemic, they may not be as severe or widespread as compared to if a person developed any one of these diseases alone.  In some cases, MCTD may get worse and evolve into classic systemic sclerosis (scleroderma) or lupus.  MCTD is more common in women than men (approximately 10:1 ratio) and onset usually occurs between 15 and 35 years of age.

Symptoms

Common clinical signs of MCTD include Raynaud’s phenomenon (which may occur years before other symptoms emerge), pain and/or inflammation of multiple joints, swollen hands/puffy fingers, and myositis (muscle inflammation).  Muscle weakness, fevers, and fatigue are also common.

MCTD may cause skin changes such as lupus-like rashes, reddish patches over the knuckles, violet coloring of the eyelids, loss of hair (alopecia), and dilation of small blood vessels around the fingernails or on the face.

Nearly 80% of people with MCTD develop abnormalities in lung function which may lead to breathing difficulties and/or pulmonary hypertension.  Potential heart involvement includes pericarditis, myocarditis, and aortic insufficiency.

Patients may also develop problems swallowing, gastrointestinal difficulties, kidney disease, or enlargement of the spleen or liver.  Anemia and leukopenia develop in 30-40% of cases.

Neurological abnormalities may include sensory disturbances in various areas of the body (such as trigeminal neuralgia and peripheral neuropathy), seizures, vascular headaches, cerebral thrombosis, or cognitive dysfunction.

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What is Mixed Connective Tissue Disease?