Mixed Connective Tissue Disease
What is Mixed Connective Tissue Disease?
Mixed connective tissue disease (MCTD) is an autoimmune disorder that manifests symptoms from other conditions, such as lupus (an inflamed autoimmune disease), scleroderma (hardening and tightening of the skin and tissues), polymyositis (the inflammation of the muscles). This complicates the diagnosis of MCTD because certain symptoms appear at different stages of the disease over a number of years. The first symptoms that appear are in the hands; the fingers become numb or inflamed. MCTD can further progress to damage different internal organs, such as the heart and kidneys.
Mixed connective tissue disease (MCTD) is an autoimmune disorder that manifests symptoms from other conditions, such as lupus (an inflamed autoimmune disease), scleroderma (hardening and tightening of the skin and tissues), polymyositis (the inflammation of the muscles). This complicates the diagnosis of MCTD because certain symptoms appear at different stages of the disease over a number of years. The first symptoms that appear are in the hands; the fingers become numb or inflamed. MCTD can further progress to damage different internal organs, such as the heart and kidneys.
Mixed connective tissue disease can affect anyone at any age. It appears most prominently in women under the age of 30. Also, women are three times more likely to be diagnosed with MCTD than men.
The underlying cause of MCTD is unclear. It is an autoimmune disorder where the body’s immune system attacks its own muscle fibers, leading the presence of antibody U1-RNP in the blood. The genetic inheritance pattern is unknown. Individuals with family members with MCTD have a higher chance of being affected by this condition.
The most common symptom is Raynaud’s syndrome; the sudden tingling, numbness, or change in color in the fingers. Typically the fingers become pale and/or blue in response to cold. Other common symptoms are inflammation in the joint, muscle weakness, and tightening of the skin. Disease progress as symptoms spread throughout the body.
Other symptoms include:
- Shortness of breath
- Dysphasia – difficulty swallowing
- Heartburn – indigestion
- Alopecia – hair loss
- Soreness
- Pulmonary hypertension
- Heart failure
- Kidney disease
In MCTD, pulmonary hypertension is a major cause of death. The blood pressure in the arteries or blood vessels of the lung is abnormally high, causing difficulty breathing.
MCTD is difficult to diagnose because the symptoms of the condition can occur at different times or stages. A doctor can perform a physical exam and analyze the individual’s medical history to determine if MCTD is suspected. If MCTD is suspected, then further evaluation can be performed through a series of tests.
If MCTD is suspected, blood tests can be ordered to measure the levels of an auto antibody called anti-U1-RNP. High concentrations of this antibody indicated that the individual has MCTD.
Type and frequency of treatment in MCTD depends on the severity of the disease and the function of the organs. Some affected individuals require continuous treatment, while others only require it during inflammation flare-up.
To reduce inflammation, steroids and immunosuppressive drugs can be prescribed. Additional treatment and prescriptions can help manage organ complications and topical irritations.
In MCTD, many muscle fibers are damaged and can cause daily activities to become challenging. Physical therapy and occupational therapy is recommended.
The prognosis for affected individuals with MCTD is dependent on the individual’s symptoms and symptom management. The 10-year survival rate is extremely high. Many achieve remission without treatment. Some affected individuals can worsen over time regardless of treatment. Pulmonary hypertension is the primary cause of death in MCTD individuals.
Follow-up regularly with a pulmonologist or lung specialist.
Lifestyle changes are important for living with MCTD, such as reducing stress, quit smoking, and keeping the skin warm has known benefits.
- https://www.merckmanuals.com/en-ca/home/bone,-joint,-and-muscle-disorders/autoimmune-disorders-of-connective-tissue/mixed-connective-tissue-disease-mctd
- https://www.arthritis.org/about-arthritis/types/mixed-connective-tissue-disease/
- https://rarediseases.info.nih.gov/diseases/7051/mixed-connective-tissue-disease
Last updated 14 Nov 2015, 06:51 AM
14 Nov 2015, 06:51 AM
Hello, I just joined this forum. I have MCTD for 7 years now and Im wandering what you guys found helps the symptoms? From medication I felt that plaquanil helps the most with joint pain. From supplements I felt probiotics such as l.acidophilus, l. Rhamnosus, and l.plantarum maybe help w fatigue.And primrose oil helps w fatigue too. Also do you feel better at any regular intervals? O feel completely normal one day a month! That the day Im supposed to get my period. One amazing thi g that helped was baclofen that im taking for GERD. I had horrible GERD and with the first pill of baclofen it was gone. What are your good experiences with medication or supplements?
Last updated 10 Nov 2014, 08:35 AM
10 Nov 2014, 08:35 AM
Goodness, I feel badly that no one has responded to you in 2 months Joyus1us. I too have Hashi's with the CTD and many years of fibro and other weird symptoms that were ignored like geographic tongue that I thought was a latex allergy so ended up having all the skin prick allergy testing done only to end up at the ENT who asked me if I had lupus because this tongue condition is commonly seen in lupus patients. That sent me to the Rheumatologist real quick. Oh well. I think we probably all have crazy stories to tell. I just discovered this site today when doing some research but have been involved in the FB group for about two years. Good luck to you all.
26 Aug 2014, 06:19 PM
I was diagnosed 4 years ago but I have had "flares" or symptoms since I was about 19 years old.. I am now 53. At 19 I had had costochondritis (is an inflammation of the cartilage that connects a rib to the breastbone (sternum)) and it felt like I was having a heart attack...this maybe what you are having. All you need are anti-inflammatory meds and total rest. It will go away. Also at 19 I developed a butterfly rash on my face and upper arms that no one could diagnose because it wasn't lupus (did not show up on a test). So I had that 4 8 years and it was called "polymorphous light eruption" because it got worse in sunlight and with a lidex cream it would fade. After about 8 years it went away. Then in my 30s I had IBS for a year (went away), had Nipple Vaso Spasm (Nipple blanching (turning white) after breast feeding, occurs when the blood flow to the nipple is limited or cut off) also a form of Reynauds Phenomenon (an autoimmune symptom). Then I had my hands swell like sausages (huge) for about a month (doctor told me I had a virus) then I had palpitations that lasted for 9 months! I have had costochondritis once again. Then in my 40's I started having this chronic pain in all of my muscles...doctors say that I need to stretch or that I have joint pain and it is osteoarthritis...I get a knee replacement (which was fantastic and went very well) but swelling and soreness in muscles doesn't go away. I get numbness in both hands (neck inpingment)... then there is incontinence which comes and goes...List goes on and on. I look normal on the outside but I am constantly battling pain or something health wise. I lose my voice for no reason every few months...and the only way I feel normal is when I go on prednisone (which I try to avoid because it is soo bad for you). So people don't realize that certain activities are impossible for me because I look alright and I'm not acting sick. I am not convinced that I only have MCTD and Hashimotos because many of my symptoms are like MS, but then again my mother has Vasculitis (Wegeners) so I inherited this from her. I am afraid that we are doomed to have these multiple and frustrating symptoms for the rest of our lives and must somehow endure it . Currently Lyrica is working for me, and I also take B12 supplements every day (that made a difference too). I don't trust my doctors because they take this disorder too lightly (my Rheumy calls it "Lupus Light" yet everything I have read on it suggests otherwise. My neurologist wants to just wait and see as my MRI has demyelinating spots on it "but nothing serious" My endochrinologist has me on synthroid and says that he doesnt' want to see me for a year! So I feel abandoned by the very people that could alay my fears. So I am now looking to quackery..or alternative methods to treat my symptoms. Tapping worked to make me feel a little better...don't know if actually works but if it makes me feel better...why not?
8 May 2014, 08:09 PM
Tessa, I presented with Raynauds for years before the rest of me started going downhill. I have been super healthy all of my life and very active and fit. This has been a shock. I was diagnosed relatively quickly and began on meds. At this point I have cut back on some of the meds and am doing well. However, I have issues with my lungs whether due to MCTD or not I'm not sure. Pulmonary hypertension is what my rhumy told me could make my life much shorter. If you are having problems please check it out. I have no idea what they do for that but I know it is very serious. I have just googled for info. Recently I downloaded a report from www.rarediseases.org.
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