Q: I read your column in the Chicago area’s Daily Herald once that highlighted an ailment called mixed connective tissue disease or MCTD. I would like to know more about the symptoms and what tests can be done to rule it out or diagnose it.
A: MCTD is a medley of disorders that includes lupus, scleroderma and polymyositis. Typically, symptoms do not all appear at the same time but occur in sequence over several years, making diagnosis difficult. The cause for MCTD is not clearly understood but it is believed to be part of a large group of autoimmune disorders in which a person’s immune system incorrectly attacks healthy cells. It is more common in young women than it is in men.
Symptoms may include Raynaud’s phenomenon in which fingers take on a blanched gray/white appearance, and go numb. The disease of MCTD may demonstrate pronounced digit swelling, fatigue, and joint pain and swelling. Complications can include heart disease because of enlargement of portions of the heart and inflammation around the heart, high blood pressure that affects the pulmonary arteries, and kidney damage that can progress without signs or symptoms but can result in kidney failure. Blood testing may detect a specific antibody indicative of the disorder in some individuals, while others may have the antibody but no signs or symptoms of MCTD.
Lupus is a chronic inflammatory disease that affects the brain, heart, lungs, joints, kidneys, and more. While perhaps difficult to diagnose, about half of those with lupus will have a distinctive facial rash that resembles the wings of a butterfly on both cheeks, skin lesions that may worsen with exposure to the sun, shortness of breath, joint inflammation/pain/stiffness, headaches, fatigue, and memory loss. Symptoms vary from person to person, may be mild or severe, appear suddenly or develop slowly, and may come and go.
Diagnosis is made through lab testing that typically will include a complete blood count, sedimentation rate, ANA, urinalysis and more. Mild cases may not require treatment except during flare-ups; however, when medication is necessary, non-steroidal anti-inflammatories such as Aleve, Motrin or Advil might be recommended, or prescription drugs including corticosteroids, immune suppressants and anti-malarials might be appropriate. Alternative products include vitamin D, fish oil, flax seed and DHEA but these products should be cleared by a physician prior to incorporation.
Patients should receive sufficient rest and exercise, incorporate a healthful diet, discontinue smoking and protect their skin with long sleeved shirts and pants when exposed to the sun.
Scleroderma is a connective tissue autoimmune disorder that commonly affects people between the ages of 30 and 50. It is more prevalent in women than it is in men. Complications range from mild to severe. Through testing that may include biopsy, individuals will be found to have a buildup of collagen (bundles of tiny fibers that form connective tissue) in the skin and in other organs. There are two forms of scleroderma, a localized form that affects only the skin and a more wide-spread form.
Symptoms may include ulcers on the toes and fingers, thickening of the skin, hair loss, and more. Systemic scleroderma has the ability to affect large areas of skin, blood vessels, the heart, lungs, kidneys and other organs. When muscles and bones are affected, joint pain and stiffness, tingling of the feet, shortness of breath, and bloating may be present. Reflux disease may occur that will present problems absorbing nutrients.
Diagnosis will include lab testing to determine if elevated blood levels of certain antibodies are being produced, visual examination of the skin involved and perhaps biopsy of an affected area.
There is no drug available to halt the overproduction of collagen but specific medications that dilate blood vessels may reduce symptoms. Other drugs may help suppress the immune system. Take precautions when out in the cold, remain active, incorporate relaxation techniques, use antacids if reflux is present and discontinue smoking.
Polymyositis is an inflammatory muscle disorder most commonly found in adults between the ages of 30 and 50, in women, and in African Americans. Symptoms that typically affect muscles near the hips, thighs, arms, shoulders and neck may present over weeks or months and include progressive muscle weakness, dysphagia, fatigue, shortness of breath, and more.
Diagnosis is difficult because the collective disorder takes on many forms and changes. Have you been diagnosed with MCTD? If not, you may require laboratory testing, MRI, electromyography, and/or biopsy. In any event, you should be under the care of an experienced rheumatologist.
Treatment may include a corticosteroid such as prednisone to suppress the immune system and calcium with vitamin D to keep bones strong. Unfortunately, prednisone is associated with serious side effects that must be discussed with your physician prior to initiation. When steroids fail to work, other immunosuppressive medication might be ordered and speech therapy coupled with physical therapy might also be considered.
I cannot tell you what testing is appropriate for this complicated disorder because I don’t know your symptoms but your doctor can examine you, take a history and order appropriate testing. Be guided by what he or she says.