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MIXED CONNECTIVE TISSUE DISORDERS
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What is Mixed Connective Tissue Disorder?
Mixed Connective Tissue Disorder is an autoimmune process with symptoms of Scleroderma, Myositis, Systemic Lupus Erythematosus , Rheumatoid Arthritis and/or other autoimmune diseases. It is a description of a group of symptoms occurring together. This is different from a diagnosis that describes the underlying process.
It is a disorder of the immune system, which normally functions to protect the body against invading infections and cancers, and toxins. In Mixed Connective Tissue Disorder, as in other autoimmune diseases parts of the complex immune system is over-active and produces increased amounts of abnormal antibodies that attack the patient's own organs.
Sometimes MCTD is called Overlap Syndrome or Undifferentiated Mix Connective Tissue Disorder. Some writers discriminate between them claiming that each of these are different. Some argue MCTD is not a distinct entity at all, and is just one of the forms of Lupus or Scleroderma.
MCTD can affect many parts of the body, including the joints, skin, kidneys, lungs, heart, endocrine, digestive, and nervous system, blood vessels which all are made up of connective tissue. There are reports of psychiatric disturbances similar to those found in Lupus. The signs and symptoms of MCTD differ from person to person, with the symptoms of either Lupus, or Scleroderma, or Myositis or other autoimmune disease being most prevalent. Since its manifestations can vary it is often misdiagnosed. The disease can range from mild to life threatening. It can be mild for many years, and then after about 20 years of having the disease a medical crisis may occur. The lungs and kidneys are particularly at risk. Lungs and kidneys symptoms are particularly serious involvement and should be monitored vigilantly by both the doctor and the patient.
It is estimated to attacks women eight to fifteen times more frequently than it attacks men. So, it is primarily a woman's disease, as are most of the 80 or so autoimmune diseases. It is hypothesized that there is a hormonal component to the disease, which accounts for the higher prevalence in women. According to American Autoimmune Related Diseases Association, Approximately 50 million Americans, 20 percent of the population or one in five people suffer from some 80 autoimmune diseases. Of these, the majority are women with perhaps 30 million affected.
How do you know if you have it?
Most people have subtle signs and symptoms of the disease many years before ever getting a diagnosis. They can include fingers swelling, joint and or muscular pain, irritable bowel syndrome, digestive problems, Raynaud's symptoms (fingers turning white when cold), allergies, general malaise, sleep disturbances and quite frequently overwhelming fatigue. Sometimes the symptoms feel like the flu. Some patients have frequent infections including gum infections, sore throats, stomach infections, and respiratory infections. Symptoms vary, and each person's illness can be quite different.
Often a person with MCTD goes to many doctors with these small complaints, but often a doctor will not grasp the whole picture since it is very rare. Many patients are told they are depressed and put on anti-depressants. Frequently the illness progresses until there is damage to the internal organs. It is often then that the diagnosis is made.
Often the diagnosis is made based on the symptoms. But, there are several tests of autoimmune disease. Usually the first test given is the ANA (anti-nuclear antibodies). This is a general test of autoimmune disease. A "speckled" pattern and abnormally high results are found in the ANA if MCTD is present. Although in the early stages of MCTD, it can be negative.
If the ANA is positive, additional tests will be given to identify the kind of autoimmune disease present. The RNP antibodies are the hallmark of MCTD, and will be abnormally high as well. New Evidence in an article in Arthritis and Rheumatism (May 1999)demonstrates that antibody to RNA is a better marker for MCTD since it tracks the activity of the disease. A person with this disease may have antibodies found in the various other autoimmune disease as well.
What causes the disease?
No one has an answer at this point. It is poorly understood, and since it is rare, it is difficult to obtain subjects or money to support medical studies. Much of what is known about it is based on knowledge of other diseases. There may be a genetic predisposition. It is known that autoimmune diseases run in families, although family members may have different autoimmune disease. There seems to be some kind of hormonal connection.
There are several theories that are discussed in the medical literature. Somehow, the body's immune system is attacking organs in the body as if it were an intruding source. Intruding sources could be an infection, cancer, bacteria, virus, mycoplasma or environmental factor. Even fetal cell has been theorized to be sufficient to activate the immune system. No matter what starts the process (and this is the most important research going on), the results is an over production of collagen creating fibrosis in the internal organs including the kidneys, heart, lungs, stomach and joints all of which are made up of connective tissue. As of yet no one has proven what source is attacking the body. Theories include virus, mycoplasma, and environmental substances. Additionally, a person could have an immune deficiency, such that their body can not rid itself of attacks from virus, mycoplasma, bacteria or even fungi. It is not likely there will be a cure until the cause of this disease is identified.
What treatments are there?
The treatments for Mixed Connective Tissue Disorder are similar to those used for other autoimmune diseases. There are few studies of the effectiveness of most of the medications since this is such a rare disease. There are medications to control symptoms, as well as anti-inflammatory, immune suppressing, immune modifying, which are used to try and change the course of the illness.
Many medications are used to control the various symptoms. Patients often need to take a combination of medications to eliminate pain and reduce symptoms. These can include aspirin, Tylenol anti-acids, medications for diarrhea, reflux. Heart medications sometimes help control the Raynaud's symptoms (cold extremities). There are ACE inhibitors which can protect the kidney from damage.
Medications for MCTD may also include other non-steroidal anti-inflammatory drugs, antimalarials, corticosteroids, and other immunosuppressants. Anti-inflammatories Steroids, d-penicillimine, and methotrexate are used to reduce inflammation that seems to lead to fibrosis. But, they depress the immune system and there are great risks from the long-term side effects. Since the immune system is suppressed, infection and cancer is a concern. As newer and better drugs are proven effective, these drugs will not be used in the future.
Other treatments used with people with serious symptoms are the cancer and organ transplant medications. These medications also depress the immune system. Presently Cytoxin a cancer fighting drug is being tested in many sites around the nation. Even stem-cell transplant, which is a very high-risk treatment because it wipes out the immune system totally, has been used with some success in the few patients who have undergone that treatment.
Newer Treatments
Research in Immunology has lead to immune modifying treatments such as Gamma Globulin, Photopheresis, and Plasmapheresis for autoimmune disease.
Photopheresis, developed at Yale University, modifies the immune system by using a light source on the white blood cells that contain the immune cells (the T-cells and B-cells). It is the only treatment that has gone through a blinded, phase 3, multi-center trial and found successful for Scleroderma. 68percent of the 31 patients treated with Photopheresis showed significant skin improvement as compared with 32percent of the 25 patients who were treated with D-penicillamine.
Gamma Globulin has been shown highly effective to stabilize patients with many autoimmune diseases, especially Lupus. Gamma Globulin is made up of the white cells of hundreds of people, and is given intravenously. Side effects from both Photopheresis and Gamma Globulin are transient, mainly flu like symptoms.
Interferon is being investigated as a treatment for pulmonary fibrosis with no know origin (Ideopathic.) The fibrosis from MCTD may not be the same as Ideopathic Pulmonary Fibrosis.
Photopheresis, Gamma Globulin, Interferon, and Plasmapheresis are all newer treatments and are not well understood, but have been found effective in slowing or stopping the illness. These treatments are usually not provided by a Rheumatologist. Photopheresis is provided by dermatologists; Gamma Globulin by an Immunologist; and Interferon Gamma by a Pulmonologist. They may not be a cure, but have put people in a state of remission, without the side effects of depressing the immune system.
Antibiotics for Autoimmunity
Similarly, there are many people world-wide using low dose long-term antibiotics for autoimmune diseases. Thomas McPherson Brown MD has shown that antibiotics enhance the immune system by removing Mycoplasma that the immune system is attempting to eliminate. Research studies by O'Dell et al. supported by the U.S. National Institute of Health have shown that antibiotics can put Rheumatoid Arthritis into remission. There have been a number of other studies replicating these results. Low dose Antibiotics have been found to be useful with any autoimmune disease.
Recently, there has been a small study out of Harvard by Trentham, MD reported in the Journal Lancet, showing that antibiotics put Scleroderma into remission in most of the subjects who stayed in the open label study. A larger study with 150 Scleroderma patients is being held presently. The advantage of this treatment is that there are relatively few side effects, mainly flu like symptoms, or flares of the original symptoms, then great improvement. It has no damaging effects on the body and is relatively inexpensive since the antibiotics are used in low dosage. It can be used in conjunction with almost any other medication. Once it begins to be effective, drugs that are more toxic can be eliminated. Unfortunately, it is relatively slow to get to remission. Therefore, it is better to start this medication as soon as a diagnosis is made. People with long standing illnesses will need a longer course of treatment and stronger antibiotics. With serious symptoms, it is recommended that a doctor is located with experience in the use of this treatment.
As researchers learn more about the functioning of the immune system and the cause of the disease, all treatments will be immune modifying and not immune depressing. We are lucky that information from research is growing exponentially. New knowledge and treatments will come from other disease research, especially AIDS and Cancer research, which are richly funded. If advocates for autoimmune diseases can unite, the magnitude of the problem will compel researchers, and more importantly the funding sources, drug companies and the government, to recognize autoimmunity as a priority for research and development.
HOW DOES MY IMMUNE SYSTEM FUNCTION?
Inside your body there is an amazing protection mechanism called the immune system. It is designed to defend you against millions of bacteria, microbes, viruses, toxins and parasites that would love to invade your body. To understand the power of the immune system, all that you have to do is look at what happens to anything once it dies. That sounds gross, but it does show you something very important about your immune system.
When something dies, its immune system (along with everything else) shuts down. In a matter of hours, the body is invaded by all sorts of bacteria, microbes, parasites... None of these things are able to get in when your immune system is working, but the moment your immune system stops the door is wide open. Once you die it only takes a few weeks for these organisms to completely dismantle your body and carry it away, until all that's left is a skeleton. Obviously your immune system is doing something amazing to keep all of that dismantling from happening when you are alive.
The immune system is complex, intricate and interesting. And there are at least two good reasons for you to know more about it. First, it is just plain fascinating to understand where things like fevers, hives, inflammation, etc., come from when they happen inside your own body. You also hear a lot about the immune system in the news as new parts of it are understood and new drugs come on the market -- knowing about the immune system makes these news stories understandable. In this article, we will take a look at how your immune system works so that you can understand what it is doing for you each day, as well as what it is not.
Seeing Your Immune System
Your immune system works around the clock in thousands of different ways, but it does its work largely unnoticed. One thing that causes us to really notice our immune system is when it fails for some reason. We also notice it when it does something that has a side effect we can see or feel. Here are several examples:
When you get a cut, all sorts of bacteria and viruses enter your body through the break in the skin. When you get a splinter you also have the sliver of wood as a foreign object inside your body. Your immune system responds and eliminates the invaders while the skin heals itself and seals the puncture. In rare cases the immune system misses something and the cut gets infected. It gets inflamed and will often fill with pus. Inflammation and pus are both side-effects of the immune system doing its job.
When a mosquito bites you, you get a red, itchy bump. That too is a visible sign of your immune system at work.
Each day you inhale thousands of germs (bacteria and viruses) that are floating in the air. Your immune system deals with all of them without a problem. Occasionally a germ gets past the immune system and you catch a cold, get the flu or worse. A cold or flu is a visible sign that your immune system failed to stop the germ. The fact that you get over the cold or flu is a visible sign that your immune system was able to eliminate the invader after learning about it. If your immune system did nothing, you would never get over a cold or anything else.
Each day you also eat hundreds of germs, and again most of these die in the saliva or the acid of the stomach. Occasionally, however, one gets through and causes food poisoning. There is normally a very visible effect of this breach of the immune system: vomiting and diarrhea are two of the most common symptoms.
Photo courtesy National Institute of Allergy and Infectious Disease (NIAID)
An immune cell undergoing an allergic reaction
There are also all kinds of human ailments that are caused by the immune system working in unexpected or incorrect ways that cause problems. For example, some people have allergies. Allergies are really just the immune system overreacting to certain stimuli that other people don't react to at all. Some people have diabetes, which is caused by the immune system inappropriately attacking cells in the pancreas and destroying them. Some people have rheumatoid arthritis, which is caused by the immune system acting inappropriately in the joints. In many different diseases, the cause is actually an immune system error.
Finally, we sometimes see the immune system because it prevents us from doing things that would be otherwise beneficial. For example, organ transplants are much harder than they should be because the immune system often rejects the transplanted organ.
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