A rare autoimmune disorder, mixed connective tissue disease (MCTD) affects the connective tissue of a variety of organs. Skin, joints, muscles, blood vessels, and other organs are supported and structured by connective tissue. In MCTD, your immune system attacks your own connective tissue, causing inflammation and injury.
In fact, MCTD is sometimes called an overlap syndrome because it shares features with three other connective tissue diseases: systemic lupus erythematosus (SLE), scleroderma, and polymyositis.
As MCTD is not directly inherited, although some people may have a family history of connective tissue diseases, some possible factors that may trigger or contribute to it include:
The exposure to certain viruses or chemicals, such as polyvinyl chloride and silica
Women's hormonal changes
There are genetic factors, such as having an anti-U1-RNP antibody in your blood
Raynaud's phenomenon is the most common symptom of MCTD, which affects about 90% of people with it. It usually develops slowly, not all at once. The symptoms of MCTD vary from person to person. In Raynaud's phenomenon, your fingers and toes become cold, numb, and change color (white, blue, or purple) when exposed to cold or stress. A narrowing of your extremities reduces blood flow and causes this.
MCTD may also cause the following symptoms:
Tiredness
Fever
Swelling and pain in the joints
Weakness and pain in the muscles
A rash on your face, neck, and upper body
Hardening or tightening of the skin, especially on the hands
Inflammation of the lungs or high blood pressure in the lungs can make it difficult to breathe
An abnormal heart rhythm or inflammation of the heart can cause chest pain
Inflammation of the stomach or acid reflux
Numbness, tingling, or facial pain due to nerve problems
Dryness, irritation, or inflammation of the eyes
In order to diagnose MCTD, your doctor will ask you about your medical history, symptoms, and family history, as well as examine you and run some tests, such as:
Tests to check for antibodies, inflammation, and organ function in the blood
Checking the kidneys with urine tests
Check for joint, muscle, or organ damage with X-rays, ultrasounds, or MRIs
Checking for heart problems with an echocardiogram or electrocardiogram
Checking for lung problems with pulmonary function tests or chest CT scans
A skin biopsy is performed to check for changes in the skin
The diagnosis of MCTD depends on your symptoms, your physical exam, and the results of your tests. They may also use certain criteria, such as high levels of anti-U1-RNP antibodies and at least one symptom of SLE, scleroderma, or polymyositis.
However, medication and lifestyle changes can be used to manage MCTD, which does not have a cure. A treatment plan aims to reduce inflammation, prevent organ damage, and relieve symptoms. MCTD can be treated with a variety of medications, depending on the extent and severity of the condition. Some of these medications include:
Pain and inflammation are reduced by nonsteroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen or naproxen
Reduce inflammation and suppress your immune system with corticosteroids, such as prednisone
Treatment of skin and joint problems with antimalarial drugs, such as hydroxychloroquine
A medicine that suppresses your immune system and prevents organ damage, such as methotrexate, azathioprine, or mycophenolate
Biological drugs that target specific immune system and inflammation molecules, such as rituximab, tocilizumab, and belimumab
Treatment for Raynaud's phenomenon with calcium channel blockers, such as nifedipine or amlodipine
Acid reflux can be treated with proton pump inhibitors, such as omeprazole or esomeprazole.
To help manage your condition, you may also need to make some lifestyle changes, such as:
Raynaud's phenomenon can be triggered by cold or stress
Protect your extremities by wearing gloves, socks, and clothing that is warm
You can improve your blood circulation and lung function by quitting smoking
Diet rich in fruits, vegetables, whole grains, lean protein, and healthy fats
Staying hydrated and preventing kidney problems requires drinking plenty of water
Improve your muscle strength, joint mobility, and cardiovascular health by exercising regularly with your doctor's approval
Reducing fatigue and stress by getting enough sleep and rest
To cope with the challenges of living with a chronic condition, seek emotional support from family, friends, or a counselor
It is not known how to prevent MCTD, but there are steps you can take to reduce your risk of complications and improve your quality of life, such as:
Taking your medication as prescribed by your doctor
Keeping an eye on your symptoms and reporting any changes or concerns to your doctor
Regular check-ups and tests to assess your condition and adjust your treatment
Staying healthy by washing your hands, avoiding sick people, and getting vaccinated
You should avoid exposure to harmful chemicals or substances that may worsen your condition.
Making yourself and others aware of the impact of MCTD on your health and well-being
