(Mixed Connective Tissue Disease)
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Welcome
About Mixed Connective Tissue Disease
MCTD is an autoimmune disease which occurs when a person’s immune system decides to ramp up and fight against the enemy…YOU. It was first noted in 1972 by Sharp et al. and describes a combination of symptoms from three connective tissue diseases; Systemic Lupus Erythematosus (SLE), Scleroderma and Polymyositis. Two additional diseases, Rheumatoid Arthritis and Sjogren’s Disease, may also contribute their symptoms to the overall clinical picture. The sharing of symptoms in this manner is known as “overlap.” These five are considered “overlap” diseases.
What is Connective Tissue?
Connective tissue is the fibrous tissue that makes up the framework of your body. As the immune system attacks these tissues, they become inflamed causing soreness, pain and in some instances damage to the organs.
Who does MCTD affect?
MCTD occurs in people worldwide and in all races. The female to male ratio has been reported as high as 9:1. The age of onset varies on different research but appears to range from 5 to 80 years with the average age of onset at 37 years. The peak onset however being during the teens and twenties. The incidence of occurrence also varies by research. A Minnesota study shows the incidence at 2 persons in 100,000. A study in Japan shows it at 2.7 persons in 100,000 and the incidence in a Norway study shows it at 3.8 persons in 100,000.
What is the Cause?
There is no known cause of Mixed Connective Tissue Disease. Exposure to polyvinyl chloride and silica are possible causes. Although MCTD is not listed as an heritable disease of connective tissue, there is an association of the histocompatibility complex called HLA (DR4 and DR2 for MCTD) to link family members to similar autoimmune diseases.
Symptoms (Most common early symptoms)
- Raynaud’s Phenomenon is often the first symptom and precedes the rest by many months or years, occurring in 85% of patients
- General feeling of being unwell
- Swollen fingers or hands, “Sausage Fingers”
- Muscle and joint pains
- Muscle weakness, usually proximal, with or without tenderness
- Rashes, similar to rashes of Lupus (“Butterfly” or Malar Rash) and Dermatomyositis. Red or brown patches may appear over the knuckles, violet colored eyelids (Heliotrope Rash)
- Difficulty swallowing
Diagnosis
Your board certified Rheumatologist will delve into your medical history, take a full account of your symptoms and perform a full physical examination on you. He/she will also order blood work, baseline x-rays, EKG and test your lung function by spirometry. Once the results are back, the physician will consider all of the above information to make an informed diagnosis.
The lab work which will confirm the MCTD diagnosis will look like this:
- High titers for ANA (often greater than 1:1000) with a speckled pattern
- Antibodies to U1 RNP (often greater than 1:100,000)
- Absent or negative anti-SM antibodies
- Absent or negative anti-DNA antibodies
- RF frequently present
- ESR frequently elevated
Treatment
The prescribed treatment will depend on the severity of the illness and symptoms at the time of your first visit with the Rheumatologist keeping in mind such factors as coexisting conditions and allergies. Thereafter, it is dependent on the course of the disease, how well you are responding to current treatment and whether you are experiencing any side effects.
Medications commonly used include:
Antimalarials
Example: Plaquenil (hydroxychloroquinine).
Nonsteroidal anti-inflammatory drugs (NSAIDS)
Example: Advil (Ibuprofen), Naproxen (Aleve), Celebrex, Voltaren
Steroids
Example: Hydrocortisone, prednisone, dexamethasone, triamcinolone
Disease-Modifying Antirheumatic Drugs (DMARDS)
Example: Trexall (methotrexate), Arava ( leflunomide) Imuran (azathioprine)
Complications
- Pulmonary Hypertension (High blood pressure in the pulmonary arteries) is the main cause of death in MCTD patients
- Interstitial Lung Disease (scarring in the lung)
- Heart Disease, Pericarditis, enlarged heart
- Kidney Disease (occurs in 25%)
- Digestive tract damage
- Iron Deficiency Anemia (occurs in 75%)
- Other Anemia, Leukopenia (occurs 30-40%)
- Hearing loss (can occur in up to 50%)
- Trigeminal Sensory Neuralgia (5th cranial nerve)
Prognosis
Looking at the above complications is pretty frightening. Keep in mind that of all the people diagnosed with this disease, 13% may develop severe complications in 6-12 years. The other 87% will manage their disease with medication and lifestyle changes.
It is our desire to see this number decrease. We need research to identify causes so that prevention measures can be put in place and cures can be found.
Emotional Support
If you are on Facebook, please join us at MCTD-Mixed Connective Tissue Disease (closed group) where you can ask any question in private and have any number of people around the world answering your questions at any hour of the day or night with their own personal experience.
If you would like a more personalized support group in your neighborhood, contact your local hospital or check your local newspaper for community events. Because of the rarity of this disease, there will not be a group meeting for MCTD but they often have groups for autoimmune diseases in general or a group for SLE which would be appropriate since symptoms, treatment and emotional impact are the same.
For more in depth information, please check the menu for “helpful resources,” for specific articles pertaining to Mixed Connective Tissue Disease and other valuable information available to you.
Sources
Want to download this information for easy reference and sharing?
- Open the PDF file
- Either download to your device or print directly, upper right
- To print, choose the printer icon and the print screen will appear on the left
- Select color, letter size paper and check the box Two-sided
- Click the blue print button
- Fold the paper in half with the dragonfly logo on the front to make a four page brochure
- Tip: invest in a heavier paper for a better quality brochure for your family and friends
Statement of Intent
MCTDfoundation.org is a non-profit, online gathering place, for those living with the Mixed Connective Tissue Disease (MCTD), their friends, families, support systems and medical providers.
We strive to present the most current information available on the overlap autoimmune diseases that comprise MCTD, as well as available treatment options.
We sell MCTD awareness merchandise as a fundraising mechanism to ensure the future of the site, as well as providing educational materials.
We provide forums for those afflicted, as well as blog formatted personal stories of those who care to share their personal journey with the disease. Only when we can share symptoms and histories can we start to identify commonalities. As appropriate, photographs of symptoms will also be filed.
An important aspect to be covered on the website is the impact of the Autoimmune Protocol Paleo diet, one of the ‘clean’ eating plans that has helped modify the disease process for many patients.
Our goal is broad as the need is great. We know many patients feel utterly alone and are frequently treated as if they have psychological issues, rather than an identifiable disease process. This needs to be changed.
Contact us at mctdfoundation@gmail.com
MCTD Foundation is a tax-exempt, charitable organization and is eligible to receive tax deductible contributions under the IRS Code 501(c)(3). Our EIN is 81-2333671 We thank you for your consideration.
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