Mixed Connective Tissue Disease (MCTD) is a disorder that describes a possible group of connective tissue disorders that overlap. A specific diagnosis is difficult to make for many people, so MCTD is a more general diagnosis that is given in this circumstance. Experts don’t know the specific cause of this disorder. The group includes scleroderma, systemic lupus erythematosus and polymyositis. Symptoms of these disorders include muscle weakness; arthritic, cardiac, pulmonary and skin manifestations; kidney disease; and esophagus malfunctions. Patients with these illnesses typically have very high detectible levels of antinuclear antibodies (ANAs) and antibodies to ribonucleoprotein (RNP) in their blood.
Connective tissue diseases that are genetic and therefore inherited include Marfan syndrome, which affects tissues in the aorta, lungs, eyes and skeleton. Ehlers-Danlos syndrome is another and is characterized by loose, fragile skin and joints that hyperextend. Other diseases are not caused by gene abnormalities but may be caused by immune system dysfunction. Connective tissue disorders related to immune system problems include rheumatoid arthritis, scleroderma, polymyositis, dermatomyositis and systemic lupus erythematosus.
The overall goal of treatment related to this disorder is to control symptoms and maintain function and mobility. Medical therapy should be targeted to specific organs, which may be affected. Complications such as pulmonary hypertension and infection can arise so patients need to be monitored closely. A rheumatologist experienced in the diagnosis and treatment of MCTD should oversee all patients who have the disorder. Consultation with other specialists may be necessary to evaluate or treat certain aspects of the disorder. Diet is an important component of this disorder. Some patients may need to make no modifications at all. A proper diet is important whether a person is healthy or has a rheumatic condition. Particularly, patients may need to make special diet modifications if they develop hypertension, malabsorption, esophageal reflux or other sclerodermatous-type bowel problems. Patients who have MCTD are prone to developing atherosclerotic heart disease so a heart-healthy diet is strongly advised.
Joint and muscle pain is a common feature of mixed connective tissue disease. Treatments may include medications such as nonsteroidal anti-inflammatory drugs, cortisone drugs or steroids and prescription opioids. People who have this disorder may first notice symptoms that are non-specific. Because of this, their illness may be hard to pinpoint at first and can be mistaken for other disorders. Signs and symptoms can include blood vessel spasms that disrupt blood flow to fingers, toes, ears and nose (Raynaud’s disease). Others may experience fatigue, muscle and/or joint pain, mild fever, joint swelling, swollen hands, puffy fingers or a general feeling of malaise. It’s important to see a doctor if any of these symptoms develop, especially if they are bothersome or interfere with daily activities. Medical care should be sought also if you have been diagnosed with any connective tissue disease and symptoms seem to progress.