About connective tissue disease

What is connective tissue disease?

Mixed connective tissue disease facts

  • Connective tissues are the framework of the cells of the body.
  • Mixed connective tissue disease is an "overlap" combination of connective tissue diseases.
  • Diagnosis of mixed connective tissue disease is supported by detecting abnormal antibodies in the blood.
  • Treatment of mixed connective tissue disease is directed at suppressing immune-related inflammation of tissues.

What are connective tissues?

The connective tissues are the structural portions of our body that essentially hold the cells of the body together. These tissues form a framework or matrix for the body. The connective tissues are composed of two major structural molecules, collagen and elastin. There are many different collagen proteins that vary in amount in each tissue of the body. Elastin is another protein that has the capability of stretching and returning to original length like a spring. Elastin is the major component of ligaments (tissues which attach bone to bone).

Connective tissue diseases are disorders featuring abnormalities involving the collagen and elastin. Connective tissue diseases are often characterized by a variety of immune abnormalities that are common for each particular type of illness.

What diseases characteristically affect connective tissue?

Diseases of connective tissue that are strictly inheritable (due to genetic inheritance) include Marfan syndrome (can have tissue abnormalities in the heart, aorta, lungs, eyes, and skeleton) and Ehlers-Danlos syndrome (may have loose, fragile skin or loose [hyperextensible] joints). Pseudoxanthoma elasticum is an inherited disorder of elastin.

Other diseases of connective tissue do not have specific gene abnormalities as their sole cause. These connective tissue diseases occur for unknown reasons. They are characterized as a group by the presence of spontaneous overactivity of the immune system, which results in the production of unusual antibodies in the blood.

The classic immune-related connective tissue diseases include systemic lupus erythematosus, rheumatoid arthritis, scleroderma, polymyositis, and dermatomyositis. Each of these diseases has a characteristic presentation with typical clinical findings that doctors can recognize during an examination. Each also has characteristic blood test abnormalities and abnormal antibody patterns. However, each of these diseases can evolve slowly or rapidly from very subtle abnormalities before demonstrating the classic features that help in the diagnosis. When these conditions have not developed the classic features of a particular disease, doctors will often refer to the condition as "undifferentiated connective tissue disease." This implies that the characteristic features that are used to define the classic connective tissue disease are not present, but some symptoms or signs of connective disease exist. Individuals with undifferentiated connective tissue disease may never develop a fully definable condition or they may eventually develop a classic connective tissue disease.

What is mixed connective tissue disease?

Mixed connective tissue disease, as first described in 1972, is "classically" considered as an "overlap" of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis. Patients with this pattern illness have features of each of these three diseases. They also typically have very high quantities of antinuclear antibodies (ANAs) and antibodies to ribonucleoprotein (anti-RNP) detectable in their blood. The symptoms of many of these patients eventually evolve to become dominated by features of one of three component illnesses, most commonly scleroderma. Mixed connective tissue disease is often abbreviated MCTD.

It is now known that overlap syndromes can occur that involve any combination of the connective tissue diseases. Therefore, for example, patients can have a combination of rheumatoid arthritis and systemic lupus erythematosus (hence, the coined name "rhupus").

What are the symptoms for connective tissue disease?

Early indications of mixed connective tissue disease can include:

  • General feeling of being unwell. This malaise may be accompanied by increased Fatigue and a mild fever.
  • Cold and numb fingers or toes (Raynaud's disease). In response to cold or stress, your fingers or toes might turn white and then purplish blue. After warming, the fingers or toes turn red.
  • Swollen fingers or hands. Some people experience Swelling of the fingers.
  • Muscle and joint pain. Joints may become inflamed, swollen and deformed, similar to what occurs with rheumatoid arthritis.
  • Rash. Red or reddish brown patches may appear over the knuckles.

When to see a doctor

See your doctor if you have signs and symptoms that interfere with your daily routine — particularly if you've already been diagnosed with lupus or another connective tissue disease.

What are the causes for connective tissue disease?

The precise cause of mixed connective tissue disease isn't known.

Mixed connective tissue disease is an autoimmune disorder. In autoimmune disorders, your immune system — responsible for fighting off disease — mistakenly attacks healthy cells.

In connective tissue diseases, your immune system attacks the fibers that provide the framework and support for your body. Researchers are working to identify proteins produced by the immune system that might cause mixed connective tissue disease.

Some people with mixed connective tissue disease have a family history of the condition. But the role of genetics in causing the disease remains unclear.

What are the treatments for connective tissue disease?

The treatment of mixed connective tissue disease is based on which features are causing symptoms and signs. The prognosis (outlook) varies accordingly. Therapies must be targeted for each of the organ systems affected. In general, treatment is often directed at suppressing the inflammation present in the tissues by using anti-inflammatory and immunosuppressive medications. These medications include nonsteroidal anti-inflammatory drugs (NSAIDs), cortisone drugs/steroids (such as prednisone), antimalarial drugs (hydroxychloroquine), and cytotoxic drugs (such as methotrexate, azathioprine, and cyclophosphamide). Organ damage, such as in the kidneys, can require additional treatments directed at high blood pressure, etc.

For the joint and muscle pains of mixed connective tissue disease, treatment options including NSAIDs, low-dose prednisone, hydroxychloroquine, and methotrexate can be helpful. Sometimes TNF blockers infliximab (Remicade), etanercept (Enbrel), or adalimumab (Humira) are considered for inflammatory arthritis. Physical therapy for certain joints is sometimes helpful. For pulmonary hypertension, medications that tend to open the arteries to the lungs are used along with blood-thinning drugs and even supplemental oxygen. For interstitial lung disease, prednisone and cyclophosphamide are considered. Angiotensin-converting enzyme inhibitors, such as captopril (Capoten) and enalapril (Vasotec), are used to prevent damage to the kidneys, especially if blood pressure is elevated. Esophagus irritation and heartburn can be prevented by elevating the head of the bed and can be relieved with omeprazole (Prilosec) or lansoprazole (Prevacid). Antacids can also be helpful. Constipation, cramping, and diarrhea are sometimes caused by bacteria that can be treated with tetracycline or erythromycin.

What are the risk factors for connective tissue disease?

Mixed connective tissue disease can occur in people of any age. However, it appears to be most common in women under the age of 50.

Is there a cure/medications for connective tissue disease?

There is no cure for connective tissue disease, but there are medications that can help treat symptoms.

The first step in treating any type of connective tissue disease is to see your doctor and get a diagnosis. From there, you'll start working with them to find the right treatment plan for your specific condition. That might mean taking medications like steroids or nonsteroidal anti-inflammatory drugs (NSAIDs) to reduce inflammation in your body; it could also mean trying physical therapy or other forms of exercise therapy to manage pain and stiffness.

It's important to remember that connective tissue diseases are not curable—no "magic pill" will make them go away entirely—but treatments can help manage symptoms so that you can live less pain or discomfort than before.

Here's a list of some common medications used to treat these conditions:

1. Steroids: Steroids are often used to treat a range of connective tissue diseases. They can help reduce inflammation and pain, but they do come with side effects like insomnia and mood swings.

2. NSAIDs: NSAIDs (nonsteroidal anti-inflammatory drugs) are used to reduce pain and swelling in connective tissue diseases like lupus and rheumatoid arthritis. These drugs can cause stomach ulcers and kidney problems if they're taken for too long or at high doses, so be sure to talk with your doctor before taking them on your own.

3. Immunosuppressants: Immunosuppressants block your body's immune response, which is why they're used for autoimmune conditions like lupus or rheumatoid arthritis—they keep your body from attacking itself! However, immunosuppressants also have side effects like infections and organ damage, so they should only be taken under the supervision of your doctor.

4. Methotrexate: This is a drug that inhibits the production of certain building blocks of DNA and RNA, which are the chemical building blocks of all cells in the body. It is used to treat joint pain and swelling, skin rashes and pain, and other symptoms caused by certain connective tissue diseases.

5. Corticosteroids: These medications reduce inflammation by suppressing the immune system's inflammatory response. They are often used in addition to other treatments for conditions such as arthritis or lupus. Corticosteroids can also be given in high doses as a short-term treatment for severe conditions such as asthma or arthritis flares.

6. Antibiotics: Antibiotics are prescribed for infections caused by bacteria, not viruses like colds or influenza. Antibiotics are often used when you have symptoms like fever, diarrhea, vomiting, or coughing up blood due to an infection from your connective tissue disease.

Pain or stiffness in your joints,Swelling in your joints or other parts of your body,Sores on your skin which itch or burn,Changes in how your muscles move,Anemia (low red blood cell count)
Rheumatoid arthritis (RA),Lupus erythematosus (LE),Systemic sclerosis (SSc),Sjögren's syndrome (SS),Marfan syndrome
Riboflavin (vitamin B2),Oral steroids,Immunosuppressants such as azathioprine (Imuran) and cyclosporine (Neoral)

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