A rare inflammatory autoimmune disorder that causes symptoms of several disorders, including scleroderma, lupus, and polymyositis, is called mixed connective tissue disease (MCTD). Furthermore, most people who develop MCTD also have Sjogren’s syndrome or rheumatoid arthritis. Treatments are often different among people because they depend on several factors. For example, the type and severity of the condition, overall health, your response to treatment, and others.
Furthermore, this is an autoimmune disorder, which means the immune system mistakenly attacks healthy tissue instead of bacteria, viruses, and other germs that can make you ill. In addition, approximately 25% of people with MCTD also develop another connective tissue disease. That’s why it is sometimes called overlap syndrome.
Symptoms
The symptoms appear differently among people with MCTD. Check some general symptoms of mixed connective tissue disease below:
- Low-grade fever
- Joint pain and inflammation
- Muscle weakness or pain without an obvious cause
- Fatigue (extreme tiredness)
- Malaise
- Red or reddish-brown rashes or patches on the knuckles
- Swollen fingers (in some cases, this symptom may indicate sclerodactyly)
- Raynaud’s phenomenon – It causes reduced blood flow to the fingers, toes, ears, and nose, which may lead to numbness, skin discoloration, and increased sensitivity in the affected areas.
If you or your child has any of the previous symptoms, immediately contact your healthcare provider. Otherwise, it may lead to serious complications (such as permanent damage).
What Does an MCTD Flare-up Feel Like?
When it occurs, a person often experiences severe joint and muscle pain. It happens due to joint inflammation, and the symptoms are very similar to those of rheumatoid arthritis. Furthermore, the fingers and toes (sometimes) may suddenly feel numb and tingly and become pale or blue in response to stress or cold.
Causes and Risk Factors
Healthcare professionals do not fully understand why MCTD occurs, but they have identified that it happens more frequently in people with a family history of connective tissue diseases. While MCTD may affect anyone, there are some factors that could increase your risk. Check some examples below:
- Environmental factors – Prolonged exposure to chemicals or materials (including polyvinyl chloride and silica) may increase your risk of developing MCTD.
- Viral infections
- Sex – MCTD mostly affects females between the ages of 20 and 30. However, it may occur at any age.
- Existing autoimmune disorders – If a person already has an autoimmune disease, the risk of developing MCTD significantly increases.
- Certain lifestyle factors – These include smoking, Westernized dietary habits, reduced intake of green tea, misuse of alcoholic drinks or recreational drugs, lack of physical activity, and others.
- Genetic factors – Some studies have shown that people with MCTD may have at least one of the following genetic mutations. These include mutations in the HLA-DR4, HLA-DR1, or HLA-B*08 genes.
- Family history – If you have a sibling or parent with an autoimmune disease, the risk of developing MCTD significantly increases.
What Are The Potential Complications of Mixed Connective Tissue Disease?
This disorder may also cause multiple complications, especially if the affected person ignores the symptoms and does not get treatment. Check some complications below:
- Pulmonary hypertension (increased blood pressure in the lungs)
- Interstitial lung disease
- Heart disease
- Kidney or digestive tract damage
- Anemia (low red blood cell count)
- Necrosis (tissue death)
- Deafness (hearing loss)
- Nerve damage
- Muscle atrophy
- Scoliosis (curvature of the spine)
- Hip displacement
The previous list does not contain all possible complications of MCTD. However, you can consult with your doctor about ways to reduce the risk of developing them. Unfortunately, there is no way to prevent this condition because it is an autoimmune disorder that occurs spontaneously.
Diagnosis
Commonly, it is difficult to diagnose this condition because it combines 3 disorders that do not occur at the same time. Sometimes, it may take years before a physician makes an accurate diagnosis. In general, there are 4 features that point to MCTD. For example:
- Increased levels of an antibody called anti-U1-RNP (ribonucleoprotein) in the blood.
- The absence of severe kidney or central nervous system problems that usually appear in people with lupus.
- Pulmonary hypertension and severe arthritis often do not happen in people with scleroderma and lupus.
- Raynaud’s phenomenon is present in only about 25% of people with lupus.
Treatment
While some people need treatment only during flare-ups, others require constant medical care. Furthermore, this disorder cannot be cured. That’s why doctors often recommend the following options to ease the symptoms and improve your quality of life. These include:
- Corticosteroids – This is a group of medicines used to reduce inflammation. It is often prescribed by doctors for people with a mild form of MCTD. In rare cases, doctors may recommend high doses of corticosteroids to relieve severe symptoms.
- Antimalarial drugs – Doctors often prescribe Hydroxychloroquine to prevent flare-ups and treat mild MCTD.
- Calcium channel blockers – These medicines are used to treat Raynaud’s phenomenon. It works by relaxing the muscles in the walls of blood vessels.
- Immunosuppressants – In more severe cases, immunosuppressants are used to suppress the immune system activity, which causes severe symptoms.
- Antihypertensives – these medications are often prescribed by doctors to treat pulmonary hypertension. Without treatment, this condition may cause heart failure, which is one of the leading causes of death in people with MCTD.
Home Remedies
Doctors may also advise the following tips to improve the effectiveness of treatment. Check some examples below:
- Protection from cold – Do not stay outdoors for a long period or get protection for your hands (especially in cold weather).
- Stop smoking – Tobacco products narrow your blood vessels, which may worsen Raynaud’s phenomenon. If you have problems with smoking cessation, discuss it with your doctor.
- Manage stress – Physicians often recommend relaxation practices and counseling to cope with stress.
- NSAIDs (nonsteroidal anti-inflammatory drugs) – This group of medicines is primarily used to treat mild pain and inflammation.
It is very important to consult with your doctor before using corticosteroids because prolonged use of these medications may cause the following health problems. For example, osteoporosis (bone loss), infections, muscle weakness, ischemia (reduced or a lack of blood flow, which often leads to tissue death), Cushing syndrome, and others.
Frequently Asked Questions
When should I see my healthcare provider?
It is usually recommended to visit a doctor if you experience sudden and severe symptoms without an obvious reason, or if the treatment you get for MCTD does not work.
What are the first symptoms of MCTD?
In most cases, people who develop this autoimmune disease experience the following symptoms. Examples include Raynaud’s phenomenon, fatigue, joint pain, swelling, fever, and muscle pain. However, they may also have other symptoms. If you have any other questions, ask your healthcare provider.
