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Mixed Connective Tissue Disease (MCTD)

First described in 1972, mixed connective tissue disease (MCTD) is an autoimmune disease that is considered to be an "overlap" of different inflammatory forms of autoimmune connective tissue diseases: systemic lupus erythematosus (lupus)scleroderma, Sjogren’s syndrome and inflammatory myositis (dermatomyositis and polymyositis). It can also occur with Sjogren’s syndrome. People with MCTD experience symptoms of a few of these diseases. In many cases, this mixed set of symptoms is eventually dominated by symptoms characteristic of one of the illnesses, especially scleroderma or lupus.

FAQs

What are early signs of MCTD?

Most people with MCTD experience subtle signs of the disease many years before having it diagnosed. These symptoms can include swollen fingers, joint pain with swollen joints (especially of the hands), acid reflux, difficulty swallowing, muscle weakness (of the upper arms and legs), shortness of breath, dry cough, rash, general malaise and fatigue. Raynaud's phenomenon, in which the fingers become pale and numb in response to cold or emotional stress, is very common in this disease. Symptoms of MCTD vary widely and each person's illness can be quite different.

Often a person with MCTD will visit many doctors before they receive a confirmed diagnosis. Although the diagnosis is often made based on the overlapping symptoms of lupus, scleroderma and polymyositis, a blood test for ANA (anti-nuclear antibodies) – a general test of autoimmune disease – is taken. Abnormally high test results for ANA and a high index of suspicion leads to further blood tests. Further testing of the blood will detect a more specific antibody, anti-ribonucleoprotein (RNP), which is present in almost all people who have MCTD.

Almost everyone with MCTD will have aching joints. The disease also inflames the muscle fibres causing weakness and sometimes soreness, especially in the muscles around the shoulders and hips.

Frequently, MCTD causes swollen hands and fingers where the fingers may look very puffy and joints may be swollen. A pink butterfly-shaped rash on the cheeks and the bridge of the nose, red patches on the knuckles, a violet discolouration of the eyelids and red dot-like blood vessels on the face and hands may also occur. There may be small hemorrhages around the nail beds.

How is MCTD diagnosed?

The diagnosis is usually made by a rheumatologist after a patient is assessed with signs and symptoms of different diseases (ex. lupus, scleroderma and polymyositis). The diagnosis requires the presence of high levels of anti-RNP antibodies – the rheumatologist will check for this.

What are the risk factors for MCTD?

The causes of MCTD are unknown. There may be a genetic predisposition – autoimmune diseases like MCTD do tend to run in extended families.

How common is MCTD?

Mixed connective tissue disease is relatively rare, and the vast majority of people with the disease (80 per cent) are women. MCTD occurs among people of all ages. It is usually diagnosed by a history, physical examination with features of a few connective tissue diseases and a positive antibody for RNP. This antibody can occur in other connective tissue diseases such as scleroderma and SLE but virtually always is present in MCTD.

Treatment

A diagnosis of MCTD is typically made or confirmed by a rheumatologist. They will work with you to develop a disease treatment plan, in an effort to get the inflammation under control and slow or stop the progression of the disease. For a person diagnosed with MCTD, the rheumatologist is the leader of your health-care team.

Medications 

Treatment of MCTD is directed at suppressing immune-related inflammation of tissues, and is similar to treatment for lupus. Corticosteroids (for example, prednisone) are usually effective, especially when the disease is diagnosed early. Mild cases can be treated with nonsteroidal anti-inflammatory drugs (NSAIDs), hydroxychloroquine or similar drugs, and low doses of corticosteroids.

The more severe the disease, the higher the dose of corticosteroid needed. Prednisone is the most common corticosteroid used and is taken in pill form. Prednisone is usually considered when the symptoms of MCTD are not being controlled by other treatments.

Prednisone use needs to be carefully monitored because of its many side effects, and the drug must never be stopped abruptly. Some of the side effects from long-term use include cataracts, high blood pressure, sleep problems, muscle loss, bruising, thinning of the bones (osteoporosis), weight gain and increased risk of infections. The goal with this and most drugs is to find the lowest effective dose to avoid as many of the side effects as possible.

In severe cases of MCTD, immunosuppressive drugs (e.g. cytotoxic drugs) may also be needed. These drugs are powerful medications that suppress inflammation and the immune system. You may be prescribed these if your MCTD symptoms are difficult to control with prednisone alone or if you are experiencing side effects from prednisone.

Raynaud’s Phenomenon (fingers turning pale) may require treatment especially if it is severe and complicated by finger tip ulcers. Calcium channel blockers or PDE5 inhibitors may be used. Often proton pump inhibitors, antacids, H2 blockers and pro-motility drugs may be used for the esophageal reflux (heart burn with acid reflux) or dysphagia (problems swallowing) or other stomach/bowel symptoms.

In general, the more advanced the disease and the greater the organ damage, the less effective the treatment will be. Scleroderma-like damage to the skin and esophagus is least likely to respond to treatment. Symptom-free periods can sometimes last for many years with minimal or no ongoing treatment. However, MCTD will progress in spite of treatment in about 13 per cent of cases. In large part, the prognosis for MCTD is usually quite good.

Arthritis medications are designed to control a disease, slow its progression, and to help manage pain. These medications can be very complex, so you are encouraged to ask for in-depth explanations from your health care team – including pharmacists, who are an excellent source of information.  

To explore this area of treatment, the Arthritis Society has developed a comprehensive expert guide that delivers detailed information on medications used to treat arthritis.

EXPLORE: Arthritis Medications – A Reference Guide

The optimal treatment is what is best in each individual case – so speak with your specialist about what kind of medications are most appropriate for you for several features of the disease. Your primary care physician or nurse practitioner and pharmacist may also be helpful.

Therapies

These healthcare professions have advanced training from a university and are registered to practice by their provincial/territorial association.

A physiotherapist (PT) can develop an individualized program designed to help you increase your strength, flexibility, range-of-motion, and general mobility and exercise tolerance through a wide variety of therapeutic treatments and strategies. These include exercise prescription, physical interventions, and relaxation, in addition to advising you on other techniques for reducing pain and increasing your overall quality of life. PTs can also refer you to other health professionals and community services for further measures that will help you adapt to your changing circumstances.

An occupational therapist (OT) trained in arthritis management can analyze everything you do in a day and develop a program to help you protect your joints and minimize fatigue. If necessary, your OT can help you redesign your home or workplace to make it easier for you to work or simply get around. They can also make or recommend a number of different splints, braces, orthopedic shoes and other aids that can help reduce your pain and increase your mobility and functionality. Their goal is to prepare you, using assistive devices and adaptive strategies, to reclaim as much of your former life as possible.

Self-Management

In addition to following your treatment plan, there is a lot you can do yourself to help decrease your pain and increase your movement. Physiotherapy, occupational therapy, regular exercise and relaxation techniques are very important parts of your overall treatment plan. Although you can undertake many of these activities on your own, it is important to assemble a health-care team who can help oversee and direct your self-management efforts. Learning as much as you can about the disease is also important to help you make informed decisions about treatment and lifestyle, and maximize your quality of life.

Physical activity

Physical activity is any activity that uses your muscles and increases your heart rate. Physical activity strengthens the muscles and connective tissues around your joints, helping support joints that have been weakened by arthritis. Participating in a properly designed exercise program is a great way to help alleviate the discomfort caused by arthritis. So are all those activities that you do as a part of everyday life – such as vacuuming the house, walking to work, even gardening. These kinds of activities can be very beneficial for your joints, and can help you maintain and improve your mobility.

Exercise

Exercise is physical activity that involves heavier, repetitive exertion, and is designed to improve or maintain physical fitness. Lifting weights, running on a treadmill, taking a yoga class – these are the kinds of planned motions that we do specifically to improve our flexibility, strength or endurance. Being physically active can reduce pain and fatigue, improve mobility and overall fitness, and improve your state of mind by allowing you to actively participate in your own treatment.

There are different types of exercises you can do to decrease pain and stiffness:

  • Flexibility exercises, including stretches and range of motion exercises, improve flexibility and can reduce pain and stiffness and help keep your joints moving. Range of motion refers to the amount your joints can move in certain directions. Stretches elongate muscles and are best done when muscles are already warmed up. Ideally, you should complete range of motion exercises every day even on days when your joints are sore. For some ideas about stretches, check out our “Simple Stretches” video
  • Strengthening exercises maintain or increase muscle tone and protect your joints. These exercises include weight training done with “free” weights, your own body weight or weight machines.
  • Endurance exercises strengthen your heart, give you energy, control your weight and help improve your overall health. These include walking, swimming and cycling including stationary bikes. It is best to avoid high-impact exercises like contact sports.

Many low-impact exercise options can benefit people living with arthritis. Consult your health-care provider to find an exercise(s) that is suitable to you and your particular condition. Examples include:

  • Tai Chi: This ancient Chinese martial art is a combination of movements performed in a slow, focused manner. Though it has many variations and styles, Tai Chi is a low-impact exercise and is reminiscent of both yoga and meditation. Tai Chi could improve pain and physical function in some people as well as alleviate depression and contribute to health-related quality of life.
  • Yoga: Numerous studies have shown the benefits of yoga for stress and anxiety. The practice of breath control, simple meditation and stretching can improve a person’s state of mind and help him or her better manage pain. Regular yoga under the guidance of a certified instructor can also boost one’s general health and increase energy levels.

(NOTE: In some cases, people living with arthritis should avoid strenuous yoga routines, such as Bikram and power yoga.)

For more information about arthritis, physical activity and exercise, visit our Exercise & Motion page

Protect your joints

While it’s important to keep your joints moving, it’s also important to avoid situations that put excessive stress or strain on your joints, as that can increase your risk of injury and make your joints deteriorate faster. Avoiding joint stress will also lead to less pain and help your joints work better, longer.

Techniques to protect your joints include:

  • Pace yourself: alternate heavy or repeated tasks with lighter tasks. Taking a break reduces stress on painful joints and conserves energy by allowing weakened muscles to rest.
  • Keep joints aligned: Positioning joints wisely promotes proper alignment and decreases excess stress. For example, squatting and kneeling may put extra stress on your hips or knees. When lifting or carrying heavy items, keep items at waist height and avoid carrying them up and down stairs.
  • See a therapist: Talking to your doctor about seeing a physiotherapist who can customize your exercise program, or an occupational therapist who can advise you on assistive devices and adaptations for your home or workplace.
  • Use assistive devices: Using appropriate tools and devices not only makes tasks easier, it helps to conserve your energy. Raise seat levels to decrease stress on hip and knee joints. Use a reacher to pick up items from the ground. Use a cane or walker to decrease stress on hip and knee joints.

For more information about protecting your joints, visit our Active Joint Protection page. 

Heat & Cold

Taking a warm shower and using warm packs are great ways to help reduce pain and stiffness. Always use a protective barrier, such as a towel, between the warm pack and the skin. Heat is ideal for:

  • Relieving pain
  • Relieving muscle spasms and tightness
  • Enhancing range of motion

IMPORTANT: Do not use heat on an already inflamed joint, as it can make symptoms worse.

Using a commercial cold pack or a homemade one (from crushed ice, ice cubes or a bag of frozen vegetables) can be helpful to help provide short-term relief from inflammation. Always use a protective barrier, such as a towel, between the cold pack and the skin. Cold is ideal for:

  • Swelling
  • Decreasing pain
  • Constricting blood flow to an inflamed joint

For more information about using heat or cold, visit our Pain Management page.

Eating well

There is no conclusive evidence to suggest that what you eat can make arthritis either better or worse. However, being overweight can put excess strain on your joints. To work normally, your body needs food to supply energy, vitamins and minerals. Healthy eating will help you manage your weight and give you the energy to complete your daily activities, as well as promote a strong immune system, and bone and tissue health.

Three ways to improve your nutrition include:

  • Avoid saturated and trans fats: A healthy diet should include modest amounts of unsaturated fats. Saturated and trans fats should be avoided. Choosing the right amount and types of fats can help you achieve and maintain a healthy body weight, and improve your overall health. Extra virgin olive oil and deep cold water fish such as salmon, trout or herring are examples of healthy choices.
  • Reduce sugar intake: Sugar contains “empty” calories and has no nutritional value. This includes syrup as well as white, brown, cane and raw sugar. Limit or avoid adding sugar to drinks and cereals. Although artificial sweeteners contain fewer calories, it is best to get used to food being less sweet. Use dried, unsweetened fruit like raisins, cherries or dates to sweeten cereals since they provide vitamins, minerals and fibre.
  • Eat more vegetables and fruit: Vegetables and fruit should make up the largest component of your diet. Keep in mind that the sweetest fruits have high sugar content so best not to overdo it. Try to have at least one vegetable or fruit at every meal and while snacking. Besides being an excellent source of energy, vegetables and fruit boost your fibre intake, which helps with digestion and weight management. They are also loaded with antioxidants, which help boost the immune system and may help maintain healthy cartilage.

For more information about eating well, visit our Arthritis and Nutrition page.

Relaxation and coping skills

Developing good relaxation and coping skills can help you maintain balance in your life, giving you a greater feeling of control over your arthritis and a more positive outlook. Relaxing the muscles around a sore joint reduces pain. There are many ways to relax. Try deep breathing exercises. Listen to music or relaxation tapes. Imagine or visualize a pleasant and restful activity, such as lying on a beach.

For more information about relaxation and coping skills, visit our Pain Management page. 

Complementary therapies

People with a chronic disease like arthritis may decide to try complementary or alternative therapies to help them manage the symptoms of their condition. Complementary and alternative therapies are treatments that fall outside the scope of traditional North American medicine. Examples include homeopathy, acupuncture and meditation.

Before you try any of these treatments, always inform your health-care provider of any complementary and alternative therapies you are taking, receiving or would like to try. Your health-care provider can offer valuable advice about these treatments, especially how they may affect other medications and treatments.

For more information, visit our Complementary and Alternative Therapies page. 

What Now

Living well with arthritis

There is a lot you can do to take control and actively manage your arthritis. Below we have listed a few resources to help you learn more about actively managing your arthritis to live better.

Flourish

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Online Learning

Our online courses are jam-packed with helpful tips and information.  Each course is devoted to a specific issue or symptom linked to arthritis.

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Workshops and Webinars

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Navigating Through Arthritis

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Contributor(s)

This information was last updated September 2017, with expert advice from:

Dr. Janet Pope, MD, MPH, FRCPC
Chief, Department of Rheumatology, St. Joseph’s Health Care London
Professor of Medicine, University of Western Ontario
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