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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?
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?
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?
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
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. 68% of the 31 patients treated with Photopheresis showed significant skin improvement as compared with 32% 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.
AutoImmune Information
Antibiotic Treatment
Write to me if you would like more information.
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Connective Tissue Diseases
Scleroderma
Lupus
Chronic Fatigue and Immune Disorder, Fibromyalgia & Myositis
Lung
Raynaud's
Blood Tests: What they Mean
Medical Tests
Medications and Herbs
Traveling with A Chronic Illness
Managed Care, Insurance & Disability
Medicare and Social Security Disability
Write your elected officials
Living with MCTD
She was diagnosed with Scleroderma, CREST in 1993. Her first Rheumatologist told her she did not want to take Prednisone. At the time she did not know what he meant. It was only after researching the disease did she discover why she was avoiding immune surpressing medications. In 1996 she was also diagnosed with Common Variable Immune Deficiency and was treated with Gamma Globulin. There was some immediate improvement. It reduced the frequency of infections, especially bronchitis. But many symptoms continued so that she did not stop searching for treatments. Six months later she added Antibiotics to her treatment and she did feel significantly better. But in 1998, she was told she needed Oxygen for sleep and aerobic exercise, although she felt far better than she had in previous years.
In 1998, a CT scan of Trepel-Cantor's lungs showed increasing fibrosis. Surprisingly, five different doctors agreed that Photopheresis should be tried instead of immune suppressing medications. Because so many doctors were willing to send letters to the insurance company stating that the treatment was indicated, she won a fight with her insurance company to obtain coverage for the treatment.
After three treatments in 1999, her ANA dropped from 1280 to 320, her RNP dropped from 117 to a normal 18, and her anti-cardiolipin antibodies have disappeared. She continues receiving gamma globulin, and taking antibiotics. She will continue the Photopheresis. These treatments require a continuing battle with the insurance to obtain payments. After a year of photopheresis treatments her ANA dropped to normal for several months. It jumped back up to 1280 after a respiratory infection. It quickly went down to a very low 40 to 80 for over two years now. Additionally the Raynaud's symptoms are much improved with much improved cold tolerance.
Essential to her recovery, Linda has built an informative support group of family and friends (many of which she met on the Internet). Often, when she was feeling tired and depressed, she connects to her online buddies and their websites. Thanks to their help and suggestions, she's collected a great deal of information on Mixed Connective Tissue Disorder and other autoimmune diseases. This web site is dedicated to helping others who are searching for answers.
"I owe a special thanks to the dynamic and brilliant doctors I've selected as my treatment team," says Trepel-Cantor. "Their willingness to provide 'cutting edge' initiatives have encouraged a new vision based on a very old idea: that life is an ever-unfolding mystery filled with rich possibilities at every stage. Together, our goal is to expand the search for a cure in many new directions."
Please note: This information is not intended to take the place of your doctor's or healthcare professional's advice. It is a resource to empower you, so you can obtain information to assist you when consulting with your healthcare provider; so that you can get the most from the medical services available to you. The purpose is to educate you, so that you can ask questions, and then make informed decisions about your treatment. Since this is a rare disease you need to become your own advocate.
Contact Information.
The Scleroderma
& Autoimmune Support Ring This Scleroderma and AutoimmuneSupport Ring
site owned by Linda Trepel-Cantor.
Web Design by Ray Farber.
©1999 Linda Trepel-Canter. All Rights Reserved. Updated 10/23/2002
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.
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.
Immune Deficiency
Click to subscribe to rheumatic, an e-mail support group which discusses the Antibiotic Treatment for all rheumatic diseases.
Photopheresis Studies with Connective Tissue Diseases
Contact: Inger Christensen (203) 785-6445
Contact: Ellen Samuelson (312) 908-5400
Contact: Kim Spellane, RN (617) 638-7540
Contact: Melinda Thornton (313) 876-1856
Contact: Jackie Dudley, RN (314) 362-9841
Contact: Diana Catz (212) 305-8615
Contact: Sue McCann (412) 648-8168
Contact: Terry Putman-Hair (803) 792-6325
Contact: Kathleen Hannah, RN (713) 792-2360 ext. 192
Gamma Globulin/ IVIG
Mixed Connective Tissue Disorder
Click to subscribe to a mctd e-mail support group. Write to others with MCTD.
Handwarmers are one of the best treatments for cold hands.
Linda Trepel-Cantor is a retired psychologist and hospital administrator who worked with people with serious and persistent mental illness. Trained as a researcher, she has the knowledge and background to obtain medical information. Her experience as a hospital administrator taught her the tricks to jump the hurdles of Managed Care, Insurance Companies, Social Security, Medicare, and how to obtain the best medical care.
visitor.
Please write if you want additional information, find any errors, or want to tell me what you think of this web site. I try to answer letters as quickly as I can.
e-mail
LindaRTC1@AOL.com
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